GeneDx

Cytogenomics and Biochemical Tests

Zygosity Testing

Forms and Documents

Specimen Requirements Test Info Sheet Test Requisition

Test Details

Disorders:

Chromosomal Abnormalities

Clinical Utility:

Multiple pregnancies

Lab Method:

PCR & Electrophoresis

Ordering

Test Code:

437

Turnaround Time *:

1 week

Preferred Specimen:

10 mL Amniotic Fluid

Alternative Specimen:

20 mg CVS | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 3 Ug DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81265x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Amniotic fluid AFP

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Disorders:

Open Spine/Abdominal Wall Defects

Clinical Utility:

Fetal abnormalities suspected by ultrasound, such as spina bifida, ventral wall defects, anencephaly or abnormal maternal serum screening test result. AF-AFP is performed on all amniocentesis samples drawn between 15-24 weeks gestation. ACHE will automatically be done if the AF-AFP level is greater than or equal to 2.0 MoM.

Lab Method:

Chemiluminescence

Ordering

Test Code:

2122

Turnaround Time *:

1-2 days

Preferred Specimen:

20 mL Amniotic Fluid

Billing

CPT Codes** :

82106x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Chromosome Analysis, Products of Conception (POC)

Forms and Documents

Specimen Requirements Test Info Sheet Test Requisition

Test Details

Disorders:

Chromosomal Abnormalities

Clinical Utility:

For prenatal diagnostic samples: Fetal abnormalities detected by ultrasound, abnormal maternal serum screening test result, advanced maternal age, family history of chromosome abnormality, abnormal aCGH result requiring chromosome analysis for clarification, recurrent spontaneous abortions. Fetal tissue obtained after a miscarriage (products of conception) can also be submitted for chromosome analysis and/or aCGH.
For peripheral blood samples: Multiple congenital abnormalities with or without mental retardation/developmental delay; family history of chromosome abnormality; infertility; short stature; recurrent spontaneous abortions. Sometimes a skin or tissue biopsy may be used to provide material for chromosome analysis.

Lab Method:

Karyotype

Ordering

Test Code:

1053

Turnaround Time *:

1-2 weeks

Preferred Specimen:

POC or Other Fetal Tissue

Billing

CPT Codes** :

88230x1, 88262x1, 88291x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Chromosome Analysis, Peripheral Blood (routine)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Disorders:

Chromosomal Abnormalities

Clinical Utility:

For peripheral blood samples: Multiple congenital abnormalities with or without mental retardation/developmental delay; family history of chromosome abnormality; infertility; short stature; recurrent spontaneous abortions.

Lab Method:

Karyotype

Ordering

Test Code:

0559

Turnaround Time *:

1-2 weeks

Preferred Specimen:

2-5 mL Blood-Sodium Heparin, Green Top Tube. Please note that samples received greater than 7 days after collection will be rejected and not used for analysis.

Billing

CPT Codes** :

88230x1, 88262x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Chromosome Analysis, Chorionic Villus Sample (CVS)

Forms and Documents

Specimen Requirements Test Info Sheet Test Requisition

Test Details

Disorders:

Chromosomal Abnormalities

Clinical Utility:

For prenatal diagnostic samples: Fetal abnormalities detected by ultrasound, abnormal maternal serum screening test result, advanced maternal age, family history of chromosome abnormality, abnormal aCGH result requiring chromosome analysis for clarification, recurrent spontaneous abortions. Fetal tissue obtained after a miscarriage (products of conception) can also be submitted for chromosome analysis and/or aCGH.
For peripheral blood samples: Multiple congenital abnormalities with or without mental retardation/developmental delay; family history of chromosome abnormality; infertility; short stature; recurrent spontaneous abortions. Sometimes a skin or tissue biopsy may be used to provide material for chromosome analysis.

Lab Method:

Karyotype

Ordering

Test Code:

A587

Turnaround Time *:

1-2 weeks

Preferred Specimen:

20 mg CVS

Alternative Specimen:

20 mL Amniotic Fluid|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

88235x1, 88267x1, 88261x1, 88291x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Chromosome Analysis, Amniotic Fluid

Forms and Documents

Test Info Sheet Test Requisition Specimen Requirements

Test Details

Disorders:

Chromosomal Abnormalities

Clinical Utility:

For prenatal diagnostic samples: Fetal abnormalities detected by ultrasound, abnormal maternal serum screening test result, advanced maternal age, family history of chromosome abnormality, abnormal aCGH result requiring chromosome analysis for clarification, recurrent spontaneous abortions. Fetal tissue obtained after a miscarriage (products of conception) can also be submitted for chromosome analysis and/or aCGH.
For peripheral blood samples: Multiple congenital abnormalities with or without mental retardation/developmental delay; family history of chromosome abnormality; infertility; short stature; recurrent spontaneous abortions. Sometimes a skin or tissue biopsy may be used to provide material for chromosome analysis.

Lab Method:

Karyotype

Ordering

Test Code:

2136

Turnaround Time *:

1-2 weeks

Preferred Specimen:

20 mL Amniotic Fluid

Alternative Specimen:

20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

88235x1, 88267x1, 88280x1, 88291x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Prenatal FISH DiGeorge Syndrome

Forms and Documents

Specimen Requirements Test Info Sheet Test Requisition

Test Details

Disorders:

Chromosomal Abnormalities

Clinical Utility:

Prenatal diagnosis for fetuses with ultrasound findings suggestive of 22q11.2 deletion syndrome.
Testing for fetuses at increased risk for 22q11.2 deletion based on family histor

Lab Method:

FISH

Ordering

Test Code:

455

Turnaround Time *:

1-2 weeks

Preferred Specimen:

10 mL Amniotic Fluid

Alternative Specimen:

20 mg CVS

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

88230x1, 88271x2, 88273x1, 88291x1

New York Approved

Yes

ABN Required

Yes

ICD Codes:

749 Cleft palate and cleft lip
745.2 Tetralogy of Fallot Fallot's pentalogy Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle
745.4 Ventricular septal defect, Eisenmenger's defect or complex, Gerbode defect, Interventricular septal defect, Left ventricular-right atrial communication, Roger's disease

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

FISH Follow-up

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Clinical Utility:

Evaluation of a specific cytogenetic region(s) as a follow up to chromosomal microarray analysis performed by GeneDx

Lab Method:

FISH

Ordering

Test Code:

J542

Turnaround Time *:

3 weeks

Preferred Specimen:

2-5 mL Blood - Green Top Tube

Alternative Specimen:

10 mL Amniotic Fluid|10 mg CVS|1 T25 flask of cultured amniocytes|1 T25 flask of cultured chorionic villi

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

88230x1, 88271x2, 88273x1, 88291x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Prenatal Whole Genome Chromosomal Microarray

Forms and Documents

Test Info Sheet Test Requisition Specimen Requirements

Test Details

Disorders:

Clinical Utility:

Abnormal fetal ultrasound findings
Ambiguous karyotype results
Suspected deletion/duplication syndrome
Family history of known or suspected chromosome imbalances
Abnormal maternal serum screening
Advanced maternal age

Lab Method:

Whole-genome Array CGH

Ordering

Test Code:

460

Turnaround Time *:

~2 weeks

Preferred Specimen:

20 mL Amniotic Fluid

Alternative Specimen:

20 mg CVS, 2 T25 flasks cultured amnioctyes, 2 T25 flasks of cultured chorionic villi, 3 ug DNA, POC or other fetal tissue

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81229x1, 81265x1, 88235x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Wapner, R.A. (2012) AJOG 206(1) Supplement:S2
ACOG Committee Opinion No. 446. Obstet Gynecol 114:1161-1163, 2009.
Vialard F et al. Fetal Diagn Ther 25:277-284, 2009.
Rickman L et al. Eur J Med Genet 48:232-?240, 2005.

Prenatal Targeted Array

Forms and Documents

Specimen Requirements Test Info Sheet Test Requisition Array Loci List

Test Details

Disorders:

Clinical Utility:

Abnormal fetal ultrasound findings
Ambiguous karyotype results
Suspected deletion/duplication syndrome
Family history of known or suspected chromosome imbalances
Abnormal maternal serum screening
Advanced maternal age

Lab Method:

Targeted Array CGH

Ordering

Test Code:

410

Turnaround Time *:

~2 weeks

Preferred Specimen:

20 mL Amniotic Fluid

Alternative Specimen:

20 mg CVS | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 3 Ug DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81229x1, 81265x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Rickman L et al. Eur J Med Genet 48:232?240, 2005
Sagoo GS et al. Genet Med 2009;11:139?46
Hochstenbach R et al. Eur J Med Genet 2009;52:161?9
ACOG Committee Opinion No. 446. Obstet & Gynecol 114:1161?1163, 2009
Vialard F et al. Fetal Diagn Ther 25:277?284, 2009

Prenatal Rapid Aneuploidy FISH

Forms and Documents

Specimen Requirements Test Requisition

Test Details

Clinical Utility:

For prenatal diagnostic samples: Fetal abnormalities detected by ultrasound, abnormal prenatal screening by ultrasound or maternal serum showing increased risk for aneuploidy of chromosomes 13, 18, 21, X, or Y, advanced maternal age, or family history of chromosome abnormality.

Lab Method:

FISH

Ordering

Test Code:

3582

Turnaround Time *:

2-3 days

Preferred Specimen:

10 mL Amniotic Fluid

Alternative Specimen:

10 mg CVS|1 T25 flask of cultured amniocytes|1 T25 flask of cultured chorionic villi

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

88271x5, 88275x1, 88291x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Rule out Mosaicism Chromosome Analysis, Peripheral Blood

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Disorders:

Chromosome Abnormalities (Must indicate suspected mosaic chromosomal abnormality)

Clinical Utility:

For peripheral blood samples: Multiple congenital abnormalities with or without mental retardation/developmental delay; family history of chromosome abnormality; infertility; short stature; recurrent spontaneous abortions; suspicion of chromosomal mosaicism based upon prior karyotype or chromosomal microarray result.
Sometimes a skin or tissue biopsy may be used to provide material for chromosome analysis.
Rule out mosaicism.

Lab Method:

Karyotype with 30 additional metaphases counted (50 total)

Ordering

Test Code:

T982

Turnaround Time *:

1-2 weeks

Preferred Specimen:

2-5 mL Blood-Sodium Heparin, Green Top Tube. Please note that samples received greater than 7 days after collection will be rejected and not used for analysis.

Billing

CPT Codes** :

88230x1, 88263x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Increased Nuchal Translucency (NT)

Prenatal Noonan Spectrum Disorders Panel

Forms and Documents

Test Info Sheet Specimen Requirements Test Requisition

Test Details

Genes:

Expand Genes

BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1

Disorders:

Clinical Utility:

Prenatal ultrasound findings suggestive of Noonan syndrome, including cystic hygroma
Fetus with ultrasound anomalies & parent with clinical diagnosis of Noonan syndrome

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

357

Turnaround Time *:

2-3 weeks

Preferred Specimen:

20 mg CVS

Alternative Specimen:

20 mL Amniotic Fluid|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 ug DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81404x1, 81405x2, 81406x3

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Achiron, et al (2000) Noonan Syndrome: A cryptic condition in early gestation. Am J Med Genet 92:159-165
Adekunle, et al (1999) Increased first trimester nuchal translucency: pregnancy and infant outcomes after routine screening for Down’s syndrome in an unselected antenatal population. Br J Radiol 72:457-60
Tartaglia, et al (2001) Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 29:465-8
Trauffer, et al (1994) The natural history of euploid pregnancies with first-trimester cystic hygromas. Am J Obstet Gynecol 170:1279-84
Benacerraf, et al (1989) The prenatal sonographic features of Noonan syndrome. J Ultrasound Med 8:59-63
Ferguson et al. (2006) PTPN11 gene analysis in fetuses with abnormal ultrasound findings: The GeneDx experience. Poster presentation at the Cardiofaciocutaneous Syndrome & Noonan Syndrome International Symposium, Nov 17-19, 2006, Potomac, MD
Hiippala, et al (2001) Fetal nuchal translucency and normal chromosomes: a long-term follow-up study. Ultrasound Obstet Gynecol 18:18-22
Reynders, et al (1997) First trimester isolated fetal nuchal lucency: Significance and outcome. J Ultrasound Med 16:101-105
Souka, et al (2001) Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester. Ultrasound Obstet Gynecol 18:9-17
Pandit B et al. (2007) Nat Genet 39:1007-1012. Lee et al. (2009) Clin Genet. 75(2):190-4

Skeletal and Limb Abnormalities

Prenatal SALL1 Gene Sequencing

Forms and Documents

Specimen Requirements Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

SALL1

Disorders:

Townes-Brocks Syndrome

Clinical Utility:

Prenatal diagnosis based on fetal ultrasound abnormalities
Mutation-specific testing for fetuses with a family history of a known SALL1 mutation

Lab Method:

Capillary Sequencing

Ordering

Test Code:

2523

Turnaround Time *:

2-3 weeks

Preferred Specimen:

20 mL Amniotic Fluid

Alternative Specimen:

20 mg CVS | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 3 Ug DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1, 81265x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Botzenhart, E. et al., Human Mutation 26:282, 2005
Kohlhase, J. et al., Am J Hum Genet. 64: 435-445, 1999
Marlin, S. et al., Human Mutation 14: 377-386, 1999
Borozdin, W. et al., Human Mutation 867 (Online) 2006

Prenatal TBX5 Gene Sequencing

Forms and Documents

Specimen Requirements Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

TBX5

Disorders:

Holt-Oram syndrome

Clinical Utility:

Full gene sequencing testing for fetuses with prenatal ultrasound findings suggestive of Holt-Oram Syndrome.
Mutation-spcific testing for fetuses with a family history of a known TBX5 mutation

Lab Method:

Capillary Sequencing

Ordering

Test Code:

2363

Turnaround Time *:

2-3 weeks

Preferred Specimen:

20 mL Amniotic Fluid

Alternative Specimen:

20 mg CVS | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 3 Ug DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81405x1, 81265x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Borozdin, W. et al. Hum Mutat. 27:975-976, 2006
Fan, C. et al. J Med Genet. 40:e29, 2003
Brassington, A. et al., Am J Hum Genet. 73: 74-85, 2003
Akrami, SM. et al. J Med Genet. 38:E44, 2001
Heinritz, W. et al., Heart 91: 383-384, 2005
McDermott, D. et al., Pediatr Res. 58: 981-86, 2005

Prenatal TP73L (TP63) Gene Sequencing

Forms and Documents

Specimen Requirements Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

TP73L (TP63)

Disorders:

Clinical Utility:

Hotspot analysis for fetuses with prenatal ultrasound findings suggestive of EEC or related syndromes.
Mutation-specific testing for fetuses with a family history of a known TP73L (TP63) mutation

Lab Method:

Capillary Sequencing

Ordering

Test Code:

407

Turnaround Time *:

2-3 weeks

Preferred Specimen:

20 mL Amniotic Fluid

Alternative Specimen:

20 mg CVS | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 3 Ug DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1, 81265x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Prenatal SALL4 Gene Sequencing

Forms and Documents

Specimen Requirements Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

SALL4

Disorders:

Clinical Utility:

Full sequencing testing for fetuses with prenatal ultrasound findings suggestive of Duane-Radial Ray Syndrome / Acro-Renal-Ocular Syndrome
Mutation-specific testing for fetuses with a family history of a known SALL4 mutation

Lab Method:

Capillary Sequencing

Ordering

Test Code:

408

Turnaround Time *:

2-3 weeks

Preferred Specimen:

20 mL Amniotic Fluid

Alternative Specimen:

20 mg CVS | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 3 Ug DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1, 81265x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Kohlhase, J. et al., Okihiro syndrome is caused by SALL4 mutations. Hum Mol Genet. 11:2979-2987, 2002
Borozdin, W. et al., SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism. J Med Genet. 41(9):e113, 2004
Al-Baradie R. et al., Duane Radial Ray Syndrome (Okihiro Syndrome) Maps to 20q13 and Results from Mutations in SALL4, a New Member of the SAL Family. Am J Hum Genet. 71:1195-1199, 2002
Kohlhase J. et al., Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide
Borozdin, W. et al., Novel mutations in the gene SALL4 provide further evidence for acro-renalocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum. J Med Genet.41(8):e102, 2004
Kohlhase, J. et al., SALL4 Mutations in Okihiro syndrome (Duane-Radial Ray Syndrome), Acro-Renal-Ocular Syndrome, and Related Disorders. Hum Mutat. 26:176-183, 2005
Miertus, J. et al., A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome. Hum Genet. 119: 154-161, 2006

Prenatal NIPBL Gene Sequencing and Del/Dup

Forms and Documents

Test Requisition Test Info Sheet

Test Details

Genes:

Expand Genes

NIPBL

Disorders:

Prenatal Cornelia de Lange Syndrome (CdLS)

Clinical Utility:

Prenatal diagnosis in a fetus based on ultrasound findings suggestive of a Cornelia de Lange syndrome
Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies

Lab Method:

Capillary Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

738

Turnaround Time *:

2-3 weeks

Preferred Specimen:

20 mL Amniotic Fluid

Alternative Specimen:

2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1, 81265x1

New York Approved

No

ABN Required

No

ICD Codes:

655.23 Hereditary disease in family possibly affecting fetus
655.83 Other known or suspected fetal abnormality, not elsewhere classified

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Prenatal SOX9 Gene Sequencing and Del/Dup

Forms and Documents

Specimen Requirements Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

SOX9

Disorders:

Campomelic Dysplasia (CD)

Clinical Utility:

Full sequencing and deletion/duplication testing for fetuses with ultrasound findings suggestive of CD
Mutation-specific testing for fetuses with a family history of a known SOX9 mutation

Lab Method:

Deletion/Duplication Analysis
Next-Gen Sequencing

Ordering

Test Code:

3383

Turnaround Time *:

2-3 weeks

Preferred Specimen:

20 mL Amniotic Fluid

Alternative Specimen:

20 mg CVS | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 3 Ug DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x2, 81265x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Mansour et al., (1995) J Med Genet 32:415-420
Mansour et al., (2002) J Med Genet 39:597-602
Wagner et al., (Cell) 79:1111-1120
Cameron et al., (1996) Hum Mol Genet 5(10):1625-1630
Smyk et al., (2007) Am J Med Genet 143A(8):866-870
Pop et al., (2004) J Med Genet 41:e47
Meyer et al., (1997) Hum Mol Genet 6(1):91-98
Pop et al. (2005) Hum Genet 117:43-53
Huang et al., (1999) Am J Med Genet 87:349-353
Refai et al., (2010) Am J Med Genet A 152A:422-426
Moog et al., (2001) Am J Med Genet 104:239-245

Prenatal Skeletal Dysplasia Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

Genes:

Expand Genes

AGPS, ALPL, ARSE, BMP1, CEP120, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COMP, CRTAP, DLL3, DYNC2H1, EBP, EVC, EVC2, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, GNPAT, HSPG2, IFITM5, IFT172, INPPL1, KIAA0586, LBR, LEPRE1(P3H1), LIFR, NEK1, PEX7, PLOD2, POR, PPIB, RUNX2, SERPINH1, SLC26A2, SLC35D1, SOX9, TMEM38B, TRIP11, TRPV4, TTC21B, WDR34, WDR35

Disorders:

Clinical Utility:

Prenatal diagnosis in a fetus based on ultrasound findings suggestive of a skeletal dysplasia
Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
Distinguish between causes and forms of skeletal dysplasias
Genetic counseling, especially regarding recurrence risk

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

949

Turnaround Time *:

3 weeks

Preferred Specimen:

20 mL Amniotic Fluid | 2 T25 flasks of cultured amniocytes | 20 mg CVS | 2 T25 flasks of cultured chorionic villi | Direct or Cultured POC

Alternative Specimen:

3 ug Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81404x2, 81405x1, 81408x2, 81265x1

New York Approved

Yes

ABN Required

No

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Prenatal Limb Abnormalities Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

Genes:

Expand Genes

NIPBL, SALL1, SALL4, TBX5, TP73L (TP63)

Disorders:

Clinical Utility:

Prenatal diagnosis in a fetus based on ultrasound findings suggestive of a limb abnormality syndrome
Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
Distinguish between causes and forms of limb abnormality syndromes
Genetic counseling, especially regarding recurrence risk

Lab Method:

Deletion/Duplication Analysis
Next-Gen Sequencing

Ordering

Test Code:

937

Turnaround Time *:

3 weeks

Preferred Specimen:

20 mg CVS

Alternative Specimen:

20 mL Amniotic Fluid|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 ug DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81265x1, 81405x1, 81479x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Urban M, et al. Am J Med Genet. 2001 Jul 22;102(1):73-5.
Huang WH, Porto M. Obstet Gynecol. 2002 May;99(5 Pt 2):956-8.
Clark DM, et al. Am J Med Genet A. 2012 Aug;158A(8):1848-56. doi: 10.1002/ajmg.a.35410. Epub 2012 Jun 27.
Kohlhase (Updated May 2012). Townes-Brocks Syndrome. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org.
Kohlhase (Updated January 2015). SALL4-Related Disorders. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. available at http://www.genetests.org.
Tongsong T, Chanprapaph P., J Clin Ultrasound. 2000; 28: 98–100.
Sepulveda W, Enriquez G, Martinez JL, Mejia R., J Ultrasound Med. 2004; 23: 983–7.
Sutton VR, van Bokhoven H. TP63-Related Disorders. 2010 Jun 8 [Updated 2015 Aug 6]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
Kline et al. (1993) Am J Med Genet 47:1042-1049.
McDermott, D. et al., Pediatr Res. 58: 981-86, 2005.
Gillis et al. (2004) Am J Hum Genet 75:610-623.
Borck et al. (2006) Hum Mutat 27:731-735.
Minor et al. (2014) Gene537:279-284.
Castronovo et al. (2010) Clin Genet 78:560-564.
Niu et al. (2006) Prenat Diagn 26:1054-1057.
Weichert et al. (2011) J Mat Fetal Neonat Med 24(7):978-982.
Botzenhart, E. et al., Human Mutation 26:282, 2005.
Miertus, J. et al., Hum Genet. 119: 154-161, 2006.
Marlin, S. et al., Human Mutation 14: 377-386, 1999.
Borozdin, W. et al., Human Mutation 867(Online) 2006.
Borozdin, W. et al., J Med Genet. 41(9):e113, 2004.
Kohlhase J. et al., J Med Genet. 40:473-478, 2003.
Akrami, SM. et al. J Med Genet. 38:E44, 2001.
Fan, C. et al. J Med Genet. 40:e29, 2003.
Borozdin, W. et al. Hum Mutat. 27:975-976, 2006.

Central Nervous System Malformations

Prenatal L1CAM Gene Sequencing (Males)

Forms and Documents

Specimen Requirements Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

L1CAM

Disorders:

Clinical Utility:

Full sequencing for fetuses with prenatal ultrasound findings suggestive of X-linked hydrocephalus/L1CAMrelated disorder.
Mutation-specific testing for fetuses with a family history of a known L1CAM mutation

Lab Method:

Capillary Sequencing

Ordering

Test Code:

2553

Turnaround Time *:

2-3 weeks

Preferred Specimen:

20 mL Amniotic Fluid

Alternative Specimen:

20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|4 Ug DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81407x1, 81265x1

New York Approved

Yes

ABN Required

Yes

ICD Codes:

655.23 Hereditary disease in family possibly affecting fetus
655.83 Other known or suspected fetal abnormality, not elsewhere classified

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Jouet, M. (1994) Nature Genet. 7: 402-407, 1994
Finckh, U. (2000) Am. J. Med. Genet. 92: 40-46
Jackson, SR. (2009) Pediatr Surg Int. 25(9):823-5
Vos, J. (2010) J Med Genet. 47(3):169-75

Prenatal L1CAM Gene Sequencing & Del/Dup (Females)

Forms and Documents

Specimen Requirements Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

L1CAM

Disorders:

Clinical Utility:

Full sequencing for fetuses with prenatal ultrasound findings suggestive of X-linked hydrocephalus/L1CAMrelated disorder
Mutation-specific testing for fetuses with a family history of a known L1CAM mutation

Lab Method:

Capillary Sequencing
Exon Array Dx

Ordering

Test Code:

2553E

Turnaround Time *:

2-3 weeks

Preferred Specimen:

20 mL Amniotic Fluid

Alternative Specimen:

20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|6 Ug DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81407x1, 81265x1, 81479x1

New York Approved

Yes

ABN Required

Yes

ICD Codes:

655.23 Hereditary disease in family possibly affecting fetus
655.83 Other known or suspected fetal abnormality, not elsewhere classified

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Jouet, M. (1994) Nature Genet. 7: 402-407, 1994
Finckh, U. (2000) Am. J. Med. Genet. 92: 40-46
Jackson, SR. (2009) Pediatr Surg Int. 25(9):823-5
Vos, J. (2010) J Med Genet. 47(3):169-75

Prenatal Holoprosencephaly Panel & Del/Dup

Forms and Documents

Specimen Requirements Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

SHH, SIX3, TGIF, ZIC2

Disorders:

Holoprosencephaly

Clinical Utility:

Full gene sequencing testing for fetuses with prenatal ultrasound findings suggestive of holoprosencephaly
Mutation-specific testing for fetuses with a family history of a known mutation in the SHH, ZIC2, SIX3, or TGIF gene

Lab Method:

MLPA
Next-Gen Sequencing

Ordering

Test Code:

2373

Turnaround Time *:

2-3 weeks

Preferred Specimen:

20 mL Amniotic Fluid

Alternative Specimen:

20 mg CVS | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 3 Ug DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81265x1, 81479x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Wallis et al., (2000) Human Mutat 16:99-108
Dubourg et al., (2004) Hum Mutat 24: 43-51
Solomon et al., (2010) Am J Med Genet 154C: 133-141
Paulussen et al., (2010) Eur J Hum Genet 18: 999-1005
Muenke et al., (2010) Am J Med Genet 154C: 52-61
Muenke, M. and Gropman, A. Holoprosencephaly Overview, www.genereviews.org. (2010)
Solomon et al., (2009) J Med Genet 47:513-24
Roessler et al., (2009) Hum Mutat 10:921- 993
Lacbawan et al., (2009) J Med Genet 46:389-98
Bendavid et al., (2009) Hum Mutat 30: 1175-1182
El-Jaik et al., (2007) Mol Genet Metab 90:97-111
Dubourg et al., (2007) Orphan J Rare Dis 2:8
Bendavid et al., (2006) J Med Genet 43: 496-500
Bendavid et al., (2005) Hum Genet 119: 1-8

Prenatal Pontocerebellar Hypoplasia Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

AMPD2, CASK, CHMP1A, EXOSC3, OPHN1, RARS2, RELN, SEPSECS, TSEN15, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB2B, TUBB3, VLDLR, VPS53, VRK1

Disorders:

Clinical Utility:

Prenatal imaging findings suggestive of pontocerebellar hypoplasia

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

J802

Turnaround Time *:

3 weeks

Preferred Specimen:

20 mL Amniotic Fluid

Alternative Specimen:

20 mg CVS | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 3 Ug DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81265x1, 81479x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Prenatal Lissencephaly Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

ACTB, ACTG1, ARX, ATP6V0A2, B3GALNT2, B4GAT1, CIT, DCX, FKRP, FKTN, GMPPB, ISPD, KATNB1, LAMB1, LARGE1, NDE1, PAFAH1B1, POMGNT1, POMGNT2, POMT1, POMT2, RELN, TMEM5, TUBA1A, VLDLR, WDR62

Disorders:

Clinical Utility:

Prenatal imaging findings suggestive of lissencephaly

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

J793

Turnaround Time *:

3 weeks

Preferred Specimen:

20 mL Amniotic Fluid

Alternative Specimen:

20 mg CVS | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 3 Ug DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81404x2, 84105x2, 81406x2, 81407x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Prenatal Joubert Syndrome and Related Disorders Panel

Prenatal FMR1 CGG Repeat Analysis

Forms and Documents

Test Requisition Test Info Sheet

Test Details

Genes:

Expand Genes

FMR1

Disorders:

Clinical Utility:

Testing for fetuses at increased risk for Fragile X syndrome based on family history

Lab Method:

PCR Fragment Analysis

Ordering

Test Code:

TF32

Turnaround Time *:

2 weeks

Preferred Specimen:

20 mL Amniotic Fluid | 2 T25 flasks of cultured amniocytes | 20 mg CVS | 2 T25 flasks of cultured chorionic villi | Direct or Cultured POC

Alternative Specimen:

3 ug Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81243x1, 81265x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Prenatal Dosage Analysis of SMN1 and SMN2

Forms and Documents

Test Requisition Test Info Sheet

Test Details

Genes:

Expand Genes

SMN1, SMN2

Disorders:

Spinal Muscular Atrophy

Clinical Utility:

Molecular confirmation of a clinical diagnosis
Identification of at-risk family members
Assist with treatment/ management decisions
Recurrence risk assessment

Lab Method:

MLPA

Ordering

Test Code:

TF33

Turnaround Time *:

2 weeks

Preferred Specimen:

20 mL Amniotic Fluid | 2 T25 flasks of cultured amniocytes | 20 mg CVS | 2 T25 flasks of cultured chorionic villi | Direct or Cultured POC

Alternative Specimen:

Ug DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81265x1; 81337x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Prenatal AR Repeat Analysis

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

AR

Disorders:

Clinical Utility:

Testing for fetuses at increased risk for spinal and bulbar muscular atrophy based on family history

Lab Method:

PCR Fragment Analysis

Ordering

Test Code:

TF71

Turnaround Time *:

2 weeks

Preferred Specimen:

20 mL Amniotic Fluid | 2 T25 flasks of cultured amniocytes | 20 mg CVS | 2 T25 flasks of cultured chorionic villi | Direct or Cultured POC

Alternative Specimen:

Ug DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81174x1; 81265x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Prenatal DMPK Repeat Analysis

Forms and Documents

Test Requisition Test Info Sheet

Test Details

Genes:

Expand Genes

DMPK

Disorders:

Clinical Utility:

Molecular confirmation of a clinical diagnosis

Lab Method:

PCR Fragment Analysis

Ordering

Test Code:

TG16

Turnaround Time *:

2 weeks

Preferred Specimen:

20 mL Amniotic Fluid | 2 T25 flasks of cultured amniocytes | 20 mg CVS | 2 T25 flasks of cultured chorionic villi | Direct or Cultured POC

Alternative Specimen:

Ug DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81265x1; 81403x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Prenatal Akinesia/Arthrogryposis Panel

Test Details

Genes:

Expand Genes

ACTA1, CHRNA1, CHRND, CHRNE, CHRNG, CNTN1, CNTNAP1, DOK7, ECEL1, ERBB3, FKRP, GBE1, GLE1, KLHL40, LMOD3, MAGEL2, MUSK, MYBPC1, MYH3, PIEZO2, PLEC, RAPSN, RIPK4, TNNI2, TNNT3, TPM2, ZC4H2, ZMPSTE24

Disorders:

Clinical Utility:

Prenatal diagnosis based on ultrasound findings suggestive of arthrogryposis/fetal akinesia

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

TG85

Turnaround Time *:

3 weeks

Preferred Specimen:

10 mL Amniotic Fluid

Alternative Specimen:

20 mg CVS | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 3 Ug DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81265x1; 81404x1; 81407x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Ambiguous Genitalia

Prenatal NR5A1 Gene Sequencing

Forms and Documents

Test Requisition Specimen Requirements Test Info Sheet

Test Details

Genes:

Expand Genes

NR5A1

Disorders:

46,XY Gonadal Dysgenesis With or Without Adrenal Insufficiency (NR5A1-related)

Clinical Utility:

Full gene sequencing for fetuses with prenatal ultrasound findings suggestive of 46,XY disorder of sex development
Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies

Lab Method:

Capillary Sequencing

Ordering

Test Code:

746

Turnaround Time *:

2-3 weeks

Preferred Specimen:

20 mL Amniotic Fluid

Alternative Specimen:

20 mg CVS | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 3 Ug DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1, 81265x1

New York Approved

No

ABN Required

No

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Prenatal SRY Gene Sequencing

Forms and Documents

Specimen Requirements Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

SRY

Disorders:

46,XY Gonadal Dysgenesis (SRY-related)

Clinical Utility:

Full gene sequencing testing for fetuses with prenatal ultrasound findings suggestive of 46,XY gonadal dysgenesis
Mutation-specific testing for fetuses with a family history of a known SRY mutation

Lab Method:

Capillary Sequencing

Ordering

Test Code:

409

Turnaround Time *:

2-3 weeks

Preferred Specimen:

20 mL Amniotic Fluid

Alternative Specimen:

20 mg CVS | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 3 Ug DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81400x1, 81265x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Tagliarini et al., (2005) Braz J Med Bio Res 38:17-25
Paris et al., (2007) Fertil Steril 88:1437e21-25
Cameron, et al., (1997) Hum Mutat 9: 388-395
Vilain (Updated May 2009).46,XX Testicular Disorder of Sex Development
Sarafoglou et al., (2000) J Clin Endocrinol Metab 85:483-493
Hawkins, J. (1992) Am J Hum Genet 51: 979-984
Scherer et al., (1998) Cytogenet Cell Genet 80:188-192

SRY Present/Absent Testing

Forms and Documents

Test Info Sheet

Test Details

Genes:

Expand Genes

SRY

Disorders:

Gender Verification

Clinical Utility:

Ambiguous Gender

Ordering

Test Code:

J720

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Dried Blood Spots | Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81400x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Sarafoglou et al., (2000) J Clin Endocrinol Metab 85:483-493.
Hawkins, J. (1992) Am J Hum Genet 51: 979-984.
Scherer et al., (1998) Cytogenet Cell Genet 80:188-192.
Tagliarini et al., (2005) Braz J Med Bio Res 38:17-25.
Paris et al., (2007) Fertil Steril 88:1437e21-25.
Cameron, et al., (1997) Hum Mutat 9: 388-395.
Delot and Vilain. Nonsyndromic 46,XX Testicular Disorders of Sex Development. 2003 Oct 30 [Updated 2015 May 7]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.

Prenatal POR Gene Sequencing

Forms and Documents

Test Requisition Test Info Sheet

Test Details

Genes:

Expand Genes

POR

Disorders:

Clinical Utility:

Full gene sequencing for fetuses with prenatal ultrasound findings suggestive of Antley-Bixler syndrome or cytochrome P450 Oxidoreductase (POR) deficiency
Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies

Lab Method:

Capillary Sequencing

Ordering

Test Code:

907

Turnaround Time *:

2-3 weeks

Preferred Specimen:

20 mL Amniotic Fluid

Alternative Specimen:

20 mg CVS | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 3 Ug DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1, 81265x1

New York Approved

No

ABN Required

No

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Prenatal AR Gene Sequencing

Forms and Documents

Specimen Requirements Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

AR

Disorders:

Clinical Utility:

Full gene sequencing testing for fetuses with prenatal ultrasound findings suggestive of AIS.
Prenatal diagnosis when karyotype is 46,XY and ultrasound shows female genitalia
Prenatal diagnosis in at-risk pregnancies

Lab Method:

Capillary Sequencing

Ordering

Test Code:

2201

Turnaround Time *:

2-3 weeks

Preferred Specimen:

20 mL Amniotic Fluid

Alternative Specimen:

20 mg CVS | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 3 Ug DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81173x1, 81265x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Ahmed et al., (2000) JCEM. 85:658-665
Batch et al., (1992) Hum Molec Genet 1:497-503
Hiort et al., (1994) Eur J Pediatr 153:317-321
Albers et al., (1997) J Pediatr 131:386-392
Wang et al., (2004) Eur J Hum Genet 12:706-712
Avila et al., (2002) JCEM 87:182-188
Hannema et al., (2004) JCEM 89:5815-5822
Gottlieb et al (2004) Hum Mutat 23:527-533
Gottleib et al. (Updated [May 24, 2008]). Androgen Insensitivity Syndrome

Prenatal SRD5A2 Gene Sequencing

Forms and Documents

Test Requisition Test Info Sheet Specimen Requirements

Test Details

Genes:

Expand Genes

SRD5A2

Disorders:

5-Alpha Reductase Deficiency

Clinical Utility:

Full gene sequencing for fetuses with prenatal ultrasound findings suggestive of 46,XY disorder of sex development
Mutation-specific testing for fetuses with a family history of known SRD5A2 mutations

Lab Method:

Capillary Sequencing

Ordering

Test Code:

702

Turnaround Time *:

2-3 weeks

Preferred Specimen:

20 mL Amniotic Fluid

Alternative Specimen:

20 mg CVS | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 3 Ug DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1, 81265x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Maimoun et al., (2011) J Clin Endocrinol Metab 96:296-307.
Thigpen et al., (1992) J Clin Invest 90:799-809.
Hackel et al., (2005) J Mol Med 83:569-576.
Vilchis et al., (2010) J Androl 31:358-364.
Sasaki et al., (2003) J Clin Endocrinol Metab 88:3431-3436.
Wang et al., (2004) Eur J Hum Genet 12:706-712.
Andersson et al., (1991) Nature 354:159-161.
Mazen et al., (2003) Clin Endocrinol 58:627-631.
Makridakis et al., (1997) Cancer Res 57:1020-1022.

Prenatal 46,XY Disorders of Sex Development Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

Genes:

Expand Genes

AR, ARX, ATRX, CHD7, CYP11A1, CYP17A1, DHCR7, DHH, DYNC2H1, HSD17B3, HSD3B2, NEK1, NR5A1, POR, SOX9, SRD5A2, SRY, STAR, WT1

Disorders:

Clinical Utility:

Genital ambiguity or discordant external genitalia

Notes:

This panel includes 19 genes; some variants in these genes may manifest
with genital ambiguity or external genitalia that are discordant with gender based on genetic
testing findings. Pathogenic variants in these genes may be suspected when the fetal karyotype
is 46,XY or non-invasive prenatal screening is consistent with the presence of a Y chromosome
but ultrasound reveals apparently female or ambiguous external genitalia. Ultrasound detection
of abnormalities of the genitalia can be detected as early as the 2nd trimester of pregnancy.
Depending on the underlying disorder, renal malformations, congenital heart defects,
limb/skeletal malformations, intrauterine growth restriction, cleft lip/cleft palate, and
congenital brain defects may also be observed by ultrasound. Note that some ultrasound
findings may not be detectable until the 3rd trimester of pregnancy. In addition, some disorders
may also present with abnormal findings on second trimester maternal serum screening, such as
abnormal maternal serum estriol (MS-uE3) levels.

Lab Method:

Next-Gen Sequencing
Deletion/Duplication Analysis

Ordering

Test Code:

J719

Turnaround Time *:

3 weeks

Preferred Specimen:

20 mL Amniotic Fluid | 2 T25 flasks of cultured amniocytes | 20 mg CVS | 2 T25 flasks of cultured chorionic villi | Direct or Cultured POC

Alternative Specimen:

3 ug Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81173x1, 81400x1, 81404X1, 81405x1, 81407x1, 81265x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Multiple Congenital Anomalies

Prenatal Tuberous Sclerosis Panel

Forms and Documents

Test Requisition Specimen Requirements Test Info Sheet

Test Details

Genes:

Expand Genes

TSC1, TSC2

Disorders:

Tuberous Sclerosis Complex (TSC)

Clinical Utility:

Full gene sequencing and exon-level deletion/duplication for fetuses with prenatal ultrasound findings suggestive of TSC.
Variant-specific testing for fetuses with a family history of a known TSC1 or TSC2 pathogenic variant.

Lab Method:

Deletion/Duplication Analysis
Next-Gen Sequencing

Ordering

Test Code:

934

Turnaround Time *:

2-3 weeks

Preferred Specimen:

20 mL Amniotic Fluid

Alternative Specimen:

20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|4 Ug DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81405x1, 81406x2, 81407x1, and 81265x1

New York Approved

Yes

ABN Required

No

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Northrup H, Koenig MK, Au KS. Tuberous Sclerosis Complex. 1999 Jul 13 [Updated 2011 Nov 23]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.n
Roach and Sparagano (2004) J Child Neurol 19:643-649. Gusman et al., (2012) Case Reports in Pediatrics 2012: 925646.
Sciacca et al., (2014) BMC Cardiovasc Disord 14:66. Tsai et al., (2014) Cereb Cortex 24(2):315-327.
Prabowo et al., (2013) Brain Pathology 23(1):45-59. Saada et al., (2009) Ultrasound Obstet Gynecol 34(4):489.
Rose et al., (1999) Am J Hum Genet 64:986-992.
Qin et al., (2010) Hum Genet 127:573-582.
Mayer et al., (2013) Eur J Hum Genet e1–e4; doi:10.1038/ejhg.2013.129.
Kozlowski et al., (2007) Hum Genet 121:389-400.
Jones et al., (1999) Am J Hum Genet 64:1305-1315.
Dabora et al., (2001) Am J Hum Genet 68:64-80.
Sancak et al., (2005) Eur J Hum Genet 13:731-741.
Au et al., (2007) Genet Med 9:88-100.
Lee et al., (2013) Ultrasound Obsetet Gynecol 41(3) :306-311.

Prenatal DHCR7 Gene Sequencing

Forms and Documents

Specimen Requirements Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

DHCR7

Disorders:

Smith-Lemli-Opitz Syndrome

Clinical Utility:

Full gene sequencing for fetuses with increased 7-DHC levels measured in amniotic fluid or CVS tissue.
In the case of ultrasound findings and/or abnormal maternal serum screening suggestive of SLOS and no family history, prenatal measurement of 7-DHC levels is recommended as a first step.
Mutation-specific testing for fetuses with a family history of two known DHR7 mutations.

Lab Method:

Capillary Sequencing

Ordering

Test Code:

2503

Turnaround Time *:

2-3 weeks

Preferred Specimen:

20 mL Amniotic Fluid

Alternative Specimen:

20 mg CVS | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 3 Ug DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81405x1, 81265x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Witsch-Baumgartner et al., (2000) Am J Hum Genet 66:402-412
Correa-Cerro et al., (2005) Mol Gen Metab 84:112-26;
Yu, H. and Patel, S.B., (2005) Clin Genet 68:383-91
Goldenberg A, et al., Am J Med Genet A. 2004; 124: 423–6.
Rossiter et al., (1995) Am J Med Genet 56:272-5.
Irons, M. (Updated [Oct. 24, 2007]) Smith-Lemli-Opitz Syndrome In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997- 2010. Available at http://www.genetests.org

Prenatal CHD7 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

CHD7

Disorders:

CHARGE Syndrome

Clinical Utility:

Full gene sequencing for fetuses with prenatal ultrasound findings suggestive of CHARGE syndrome
Mutation-specific testing for fetuses with a family history of a known CHD7 mutation

Lab Method:

Capillary Sequencing

Ordering

Test Code:

2262

Turnaround Time *:

2-3 weeks

Preferred Specimen:

20 mL Amniotic Fluid

Alternative Specimen:

20 mg CVS | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 3 Ug DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81407x1, 81265x1

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Stromland et al., (2005) Am J Med Genet 133A:331-339
Vissers et al., (2004) Nat Genet 36:955- 957
Jongmans et al., (2006) J Med Genet 43:306-314
Lalani et al., (2006) Am J Hum Genet 78:303-314

Prenatal NR0B1 Gene Sequencing

Forms and Documents

Test Requisition Test Info Sheet Specimen Requirements

Test Details

Genes:

Expand Genes

NR0B1

Disorders:

Adrenal Hypoplasia Congenita (AHC), X-linked

Clinical Utility:

Full gene sequencing for male fetuses with a history of low maternal uE3, particularly in the presence of a family history suggestive of X-linked AHC
Mutation-specific testing for fetuses with a family history of known NR0B1 mutations

Lab Method:

Capillary Sequencing

Ordering

Test Code:

663

Turnaround Time *:

2-3 weeks

Preferred Specimen:

20 mL Amniotic Fluid

Alternative Specimen:

20 mg CVS | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 3 Ug DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81404x1, 81265x1

New York Approved

No

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Achermann et al., (2001) Molec Cell Endocrinol 185:17-25.
Mantovani et al., (2002) J Clin Endocrinol Metab 87:44-48.
Merke et al., (1999) NEJM 340:1248-1252.
Seminara et al., (1999) J Clin Endocrinol Metab 84:4501- 4509.
Shaikh et al., (2008) J Med Genet 45:e1.
Barbaro et al., (2008) Clin Genet 73:453-464.
Zhang et al., (1998) Am J Hum Genet 62:855-864.
Ho et al., (2004) Mol Genet Metab 83:330-336.
McCabe ERB (2007) Mol Cell Endocrinol 265- 266:179-182.
Muscatelli et al., (1994) Nature 372:672-676.
Lin et al., (2006) J Clin Endocrinol Metab 91:3048-3054.
Salvi et al., (2002) J Clin Endocrinol Metab 87:4094-4100.
Bardoni et al., (1994) Nat Genet 7:497-501.
Morel et al., (January 2010) Studies of a cohort of 46,XY with DSD including steroid biosynthesis deficiencies Presented at Hormonal and Genetic Basis of Sexual Differentiation Disorder and Hot Topics in Endocrinology, Miami, FL.

Eye Disorders

Prenatal Anophthalmia/Microphthalmia Panel & Del/Dup

Forms and Documents

Specimen Requirements Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

OTX2, SOX2, VSX2 (CHX10)

Disorders:

Clinical Utility:

Full sequencing testing for fetuses with prenatal ultrasound findings suggestive of anophthalmia/microphthalmia

Lab Method:

Deletion/Duplication Analysis
Next-Gen Sequencing

Ordering

Test Code:

428

Turnaround Time *:

2-3 weeks

Preferred Specimen:

20 mL Amniotic Fluid

Alternative Specimen:

20 mg CVS | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 3 Ug DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81265x1, 81479x3

New York Approved

No

ABN Required

Yes

ICD Codes:

655.2 Hereditary disease in family possibly affecting fetus [0,1,3]
655.8 Other known or suspected fetal abnormality, not elsewhere classified [0,1,3] Suspected damage to fetus from: environmental toxins intrauterine contraceptive device

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

Forrester and Merz (2006) Birth Defects Res A Clin Mol Terato 76:187-192
Williamson, KA et al. (2006) Hum Mol Genet 15(9):1413
Hagstrom SA et al. (2005) Am J Med Genet (2005) 138(2):95
Fantes, J et al (2003) Nature Genetics 33:462
Gallardo ME et al., (1999) Genomic 61:82
Gallardo, ME et al., (2004) Am J Med Genet 129A:92
Bennett CP (1991) J Med Genet 1991;28:280-1
Elliott J et al., (1993) 30(3):251-2
Wyatt A et al., (2008) Hum Mutat. (2008) 29(11):E278-83
Ragge NK et al., (2007) Eye 21(10):1290-300
Bar-Yosef U et al., (2004) Hum Genet 115: 302–309
Schneider et al. (2009) Am J Med Genet 149A(12)2706-2715
Bakrania et al. (2007) Br J Ophthalmol 91:1471-17476
E. Ferda Percin et al., (2000) Nat Genet 25(4):397-401
Aijaz S et al (2004) Invest Ophthalmol Vis Sci. 45(11):3871-6
Ragge NK et al., (2005) Am J Hum Genet. 276(6):1008-22

XomeDxPrenatal

XomeDxPrenatal Targeted

Forms and Documents

Test Requisition Family Member Test Requisition Fact Sheet Test Info Sheet

Test Details

Clinical Utility:

Establishing a molecular diagnosis in a fetus with abnormal ultrasound findings.

Notes:

With a turnaround time (TAT) of 3-4 weeks, the fetal specimen and specimens from both biological parents must be submitted at the same time, along with clinical information, in order to begin testing. This test requires approval by GeneDx before ordering; please e-mail WESPrenatal@genedx.com to discuss cases prior to submitting samples.

The XomeDxPrenatal Targeted fetal report will include medically relevant pathogenic or likely pathogenic variants in genes expected to be related to the reported fetal phenotype. Variants of uncertain significance may be reported if there is compelling evidence to suggest clinical significance.

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

959

Turnaround Time *:

3-4 weeks

Preferred Specimen:

30 mL Amniotic Fluid

Alternative Specimen:

30 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|15 µg DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81415, 81416x2, 81265

New York Approved

Yes

ABN Required

No

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

XomeDxPrenatal Comprehensive

Forms and Documents

Test Requisition Family Member Test Requisition Fact Sheet Test Info Sheet

Test Details

Clinical Utility:

Establishing a molecular diagnosis in a fetus with abnormal ultrasound findings

Notes:

With a turnaround time (TAT) of 3-4 weeks, the fetal specimen and specimens from both biological parents must be submitted at the same time, along with clinical information, in order to begin testing. This test requires approval by GeneDx before ordering; please e-mail WESPrenatal@genedx.com to discuss cases prior to submitting samples.

The XomeDxPrenatal Comprehensive fetal report will also include medically relevant pathogenic or likely pathogenic variants in genes expected to be related to the reported fetal phenotype. Variants of uncertain significance may be reported if there is compelling evidence to suggest clinical significance. In addition, variants of uncertain significance in novel candidate genes may be reported.

Lab Method:

Next-Gen Sequencing

Ordering

Test Code:

J499

Turnaround Time *:

3-4 weeks

Preferred Specimen:

30 mL Amniotic Fluid

Alternative Specimen:

30 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|15 µg DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81415, 81416x2, 81265

New York Approved

Yes

ABN Required

No

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Prenatal Known Variant Testing

Prenatal Known Familial Mutation (includes MCC)

Forms and Documents

Test Requisition

CREATE A CUSTOM PANEL

Test Details

Clinical Utility:

Mutation-specific testing for fetuses with a family history of a known mutation

Ordering

Test Code:

902

Turnaround Time *:

2 weeks

Preferred Specimen:

20 mL Amniotic Fluid

Alternative Specimen:

20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|4 Ug DNA Concentration

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

Varies by Gene

New York Approved

Yes

ABN Required

Yes

For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.