Prenatal Genetics

Cytogenomics and Biochemical Tests

Zygosity Testing

Forms and Documents

Specimen Requirements Test Info Sheet Test Requisition

Test Details

  • Multiple pregnancies
  • PCR & Electrophoresis

Ordering

437
1 week
10 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 Ug DNA Concentration

Billing

81265x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
Amniotic fluid AFP

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • 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.
  • Chemiluminescence

Ordering

2122
1-2 days
20 mL Amniotic Fluid

Billing

82106x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
Chromosome Analysis, Products of Conception (POC)

Forms and Documents

Specimen Requirements Test Info Sheet Test Requisition

Test Details

  • 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.
  • Karyotype

Ordering

1053
1-2 weeks
POC or Other Fetal Tissue

Billing

88230x1, 88262x1, 88291x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
Chromosome Analysis, Peripheral Blood (routine)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • 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.
  • Karyotype

Ordering

0559
1-2 weeks
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

88230x1, 88262x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
Chromosome Analysis, Chorionic Villus Sample (CVS)

Forms and Documents

Specimen Requirements Test Info Sheet Test Requisition

Test Details

  • 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.
  • Karyotype

Ordering

A587
1-2 weeks
20 mg CVS
20 mL Amniotic Fluid|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi

Billing

88235x1, 88267x1, 88261x1, 88291x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
Chromosome Analysis, Amniotic Fluid

Forms and Documents

Test Info Sheet Test Requisition Specimen Requirements

Test Details

  • 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.
  • Karyotype

Ordering

2136
1-2 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi

Billing

88235x1, 88267x1, 88280x1, 88291x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
Prenatal FISH DiGeorge Syndrome

Forms and Documents

Specimen Requirements Test Info Sheet Test Requisition

Test Details

  • 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
  • FISH

Ordering

455
1-2 weeks
10 mL Amniotic Fluid
20 mg CVS

Billing

88230x1, 88271x2, 88273x1, 88291x1
Yes
Yes
  • 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
FISH Follow-up

Forms and Documents

Test Info Sheet Test Requisition

Test Details

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

Ordering

J542
3 weeks
2-5 mL Blood - Green Top Tube
10 mL Amniotic Fluid|10 mg CVS|1 T25 flask of cultured amniocytes|1 T25 flask of cultured chorionic villi

Billing

88230x1, 88271x2, 88273x1, 88291x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
Prenatal Whole Genome Chromosomal Microarray

Forms and Documents

Test Info Sheet Test Requisition Specimen Requirements

Test Details

  • 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
  • Whole-genome Array CGH

Ordering

460
~2 weeks
20 mL Amniotic Fluid
20 mg CVS, 2 T25 flasks cultured amnioctyes, 2 T25 flasks of cultured chorionic villi, 3 ug DNA, POC or other fetal tissue

Billing

81229x1, 81265x1, 88235x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Wapner, R.A. (2012) AJOG 206(1) Supplement:S2
  2. ACOG Committee Opinion No. 446. Obstet Gynecol 114:1161-1163, 2009.
  3. Vialard F et al. Fetal Diagn Ther 25:277-284, 2009.
  4. 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

  • 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
  • Targeted Array CGH

Ordering

410
~2 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 Ug DNA Concentration

Billing

81229x1, 81265x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

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

Forms and Documents

Specimen Requirements Test Requisition

Test Details

  • 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.
  • FISH

Ordering

3582
2-3 days
10 mL Amniotic Fluid
10 mg CVS|1 T25 flask of cultured amniocytes|1 T25 flask of cultured chorionic villi

Billing

88271x5, 88275x1, 88291x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
Rule out Mosaicism Chromosome Analysis, Peripheral Blood

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • 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.
  • Karyotype with 30 additional metaphases counted (50 total)

Ordering

T982
1-2 weeks
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

88230x1, 88263x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

Increased Nuchal Translucency (NT)

Prenatal Noonan Spectrum Disorders Panel

Forms and Documents

Test Info Sheet Specimen Requirements Test Requisition

Test Details

BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1
  • Prenatal ultrasound findings suggestive of Noonan syndrome, including cystic hygroma
  • Fetus with ultrasound anomalies & parent with clinical diagnosis of Noonan syndrome
  • Next-Gen Sequencing

Ordering

357
2-3 weeks
20 mg CVS
20 mL Amniotic Fluid|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 ug DNA Concentration

Billing

81404x1, 81405x2, 81406x3
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Achiron, et al (2000) Noonan Syndrome: A cryptic condition in early gestation. Am J Med Genet 92:159-165
  2. 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
  3. Tartaglia, et al (2001) Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 29:465-8
  4. Trauffer, et al (1994) The natural history of euploid pregnancies with first-trimester cystic hygromas. Am J Obstet Gynecol 170:1279-84
  5. Benacerraf, et al (1989) The prenatal sonographic features of Noonan syndrome. J Ultrasound Med 8:59-63
  6. 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
  7. Hiippala, et al (2001) Fetal nuchal translucency and normal chromosomes: a long-term follow-up study. Ultrasound Obstet Gynecol 18:18-22
  8. Reynders, et al (1997) First trimester isolated fetal nuchal lucency: Significance and outcome. J Ultrasound Med 16:101-105
  9. 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
  10. 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

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

Ordering

2523
2-3 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 Ug DNA Concentration

Billing

88235x1, 81479x1, 81265x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Botzenhart, E. et al., Human Mutation 26:282, 2005
  2. Kohlhase, J. et al., Am J Hum Genet. 64: 435-445, 1999
  3. Marlin, S. et al., Human Mutation 14: 377-386, 1999
  4. 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

  • 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
  • Capillary Sequencing

Ordering

2363
2-3 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 Ug DNA Concentration

Billing

81405x1, 81265x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Borozdin, W. et al. Hum Mutat. 27:975-976, 2006
  2. Fan, C. et al. J Med Genet. 40:e29, 2003
  3. Brassington, A. et al., Am J Hum Genet. 73: 74-85, 2003
  4. Akrami, SM. et al. J Med Genet. 38:E44, 2001
  5. Heinritz, W. et al., Heart 91: 383-384, 2005
  6. 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

TP73L (TP63)
  • 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
  • Capillary Sequencing

Ordering

407
2-3 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 Ug DNA Concentration

Billing

81479x1, 81265x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
Prenatal SALL4 Gene Sequencing

Forms and Documents

Specimen Requirements Test Info Sheet Test Requisition

Test Details

  • 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
  • Capillary Sequencing

Ordering

408
2-3 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 Ug DNA Concentration

Billing

88235x1, 81479x1, 81265x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Kohlhase, J. et al., Okihiro syndrome is caused by SALL4 mutations. Hum Mol Genet. 11:2979-2987, 2002
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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

  • 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
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

738
2-3 weeks
20 mL Amniotic Fluid
2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi

Billing

81479x1, 81265x1
No
No
  • 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
Prenatal SOX9 Gene Sequencing and Del/Dup

Forms and Documents

Specimen Requirements Test Info Sheet Test Requisition

Test Details

  • 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
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

3383
2-3 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 Ug DNA Concentration

Billing

81479x2, 81265x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Mansour et al., (1995) J Med Genet 32:415-420
  2. Mansour et al., (2002) J Med Genet 39:597-602
  3. Wagner et al., (Cell) 79:1111-1120
  4. Cameron et al., (1996) Hum Mol Genet 5(10):1625-1630
  5. Smyk et al., (2007) Am J Med Genet 143A(8):866-870
  6. Pop et al., (2004) J Med Genet 41:e47
  7. Meyer et al., (1997) Hum Mol Genet 6(1):91-98
  8. Pop et al. (2005) Hum Genet 117:43-53
  9. Huang et al., (1999) Am J Med Genet 87:349-353
  10. Refai et al., (2010) Am J Med Genet A 152A:422-426
  11. 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

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
  • 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
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

949
3 weeks
20 mL Amniotic Fluid | 2 T25 flasks of cultured amniocytes | 20 mg CVS | 2 T25 flasks of cultured chorionic villi | Direct or Cultured POC
3 ug Extracted DNA

Billing

81404x2, 81405x1, 81408x2, 81265x1
Yes
No
* For price inquiries please email zebras@genedx.com

References

  1. Geister et al. (2015) Annu Rev Genomics Hum Genet 16 :199-227 (PMID: 25939055)
  2. Colombi et al. (2017) Am. J. Med. Genet. A 173 (2):524-530 (PMID: 28102596)
  3. Nishimura et al. (2005) Human Mutation 26 (1):36-43 (PMID:15895462)
  4. Herman et al. (2002) Genetics In Medicine : Official Journal Of The American College Of Medical Genetics 4 (6):434-8 (PMID: 12509714)
  5. Hatzaki et al. (2011) Am. J. Med. Genet. A 155A (10):2426-35 (PMID: 21910223)
  6. Witters et al. (2008) Genet Couns. 19 (3):267-75 (PMID: 18990981).
  7. Pauli RM, Legare JM. Achondroplasia. 1998 Oct 12 [Updated 2018 May 10]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
  8. Valadares et al. (2014) J Pediatr (Rio J) 90 (6):536-41 (PMID: 25046257)
  9. Krakow, D, et. al., (2009). Genetics in Medicine 11(2), 127-133. (PMID:19265753)
  10. Van Dijk et al. (2011) Mol Syndromol 2 (1):1-20 (PMID: 22570641)
  11. Mansour et al. (1995) Journal Of Medical Genetics 32 (6):415-20 (PMID: 7666392)
  12. Mansour et al. (2002) Journal Of Medical Genetics 39 (8):597-602 (PMID: 12161603)
  13. Robertson S. Otopalatodigital Spectrum Disorders. 2005 Nov 30 [Updated 2013 May 2]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
  14. Robertson S. FLNB-Related Disorders. 2008 Oct 9 [Updated 2013 Oct 17]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
  15. Itzkovitz et al. (2012) Hum. Mutat. 33 (1):189-97 (PMID: 21990100)
  16. Ladhani et al. (2013) Prenat. Diagn. 33 (11):1039-43 (PMID: 23836246)
  17. Braverman NE, Moser AB, Steinberg SJ. Rhizomelic Chondrodysplasia Punctata Type 1. 2001 Nov 16 [Updated 2012 Sep 13]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
  18. Gunay-Aygun M, Gahl WA, Heller T. Congenital Hepatic Fibrosis Overview. 2008 Dec 9 [Updated 2014 Apr 24]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
  19. Robin NH, Falk MJ, Haldeman-Englert CR. FGFR-Related Craniosynostosis Syndromes. 1998 Oct 20 [Updated 2011 Jun 7]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
  20. Rauch et al. (2013) J. Med. Genet. 50 (1):21-4 (PMID: 23240094)
  21. Halbritter et al. (2013) American Journal Of Human Genetics 93 (5):915-25 (PMID: 24140113)
  22. Khalil et al. (2011) Prenat. Diagn. 31 (1):115-24 (PMID: 21210484)
  23. Huber et al. (2013) Am. J. Hum. Genet. 92 (1):144-9 (PMID: 23273569)
  24. Alby et al. (2015) Am. J. Hum. Genet. 97 (2):311-8 (PMID: 26166481)
  25. Sobreira et al. (2015) Am. J. Med. Genet. A 167A (1):159-63 (PMID: 25348816)
  26. Alanay et al. (2010) American Journal Of Human Genetics 86 (4):551-9 (PMID: 20362275)
  27. Mornet et al. (2008) Best Pract Res Clin Rheumatol 22 (1):113-27 (PMID: 18328985)
  28. Jackson et al. (2012) Human Mutation 33 (1):144-57 (PMID: 21922596)
  29. Mornet E, Nunes ME. Hypophosphatasia. 2007 Nov 20 [Updated 2016 Feb 4]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
  30. Mornet et al. (2008) Best Pract Res Clin Rheumatol 22 (1):113-27 (PMID: 18328985)
  31. Jung et al. (2010) Clin. Genet. 77 (3):266-72 (PMID: 20447141)
  32. Unger S, Scherer G, Superti-Furga A. Campomelic Dysplasia. 2008 Jul 31 [Updated 2013 May 9]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
  33. Braverman NE, Bober M, Brunetti-Pierri N, et al. Chondrodysplasia Punctata 1, X-Linked. 2008 Apr 22 [Updated 2014 Nov 20]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington; 1993-2018.
  34. Essawi et al. (2017) Mol Genet Genomic Med : (PMID: 29150909)
  35. Roosing et al. (2016) J. Med. Genet. 53 (9):608-15 (PMID: 27208211)
  36. Tompson et al. (2010) Am. J. Hum. Genet. 87 (5):708-12 (PMID: 21035103)
  37. Tompson et al. (2012) Am. J. Med. Genet. A 158A (2):309-14 (PMID: 22246659)
  38. Itzkovitz et al. (2012) Hum. Mutat. 33 (1):189-97 (PMID: 21990100)
  39. Morello et al. (2006) Cell 127 (2):291-304 (PMID: 17055431)
  40. Turnpenny PD et al. Spondylocostal Dysostosis, Autosomal Recessive. 2009 Aug 25 [Updated 2017 Dec 21]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington; 1993-2018.
  41. Dagoneau et al. (2009) American Journal Of Human Genetics 84 (5):706-11 (PMID: 19442771)
  42. D’Asdia et al. (2013) Eur J Med Genet 56 (2):80-7 (PMID: 23220543)
  43. El Hokayem et al. (2012) Journal Of Medical Genetics 49 (4):227-33 (PMID: 22499340) nek/dynch
  44. Zhou et al. (2014) PLoS ONE 9 (9):e107594 (PMID: 25238597)
  45. Huang et al. (2005) American Journal Of Human Genetics 76 (5):729-49 (PMID: 15793702)
  46. Machol K, Mendoza-Londono R, Lee B. Cleidocranial Dysplasia Spectrum Disorder. 2006 Jan 3 [Updated 2017 Nov 16]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
  47. Bonafé L, Mittaz-Crettol L, Ballhausen D, et al. Achondrogenesis Type 1B. 2002 Aug 30 [Updated 2013 Nov 14]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
  48. Hiraoka et al. (2007) Nat. Med. 13 (11):1363-7 (PMID: 17952091)
  49. Furuichi et al. (2009) J. Med. Genet. 46 (8):562-8 (PMID: 19508970)
  50. Lv et al. (2016) J. Hum. Genet. 61 (6):539-45 (PMID: 26911354)
  51. Grigelioniene et al. (2013) Am. J. Med. Genet. A 161A (10):2554-8 (PMID: 23956106)
  52. Schindler A, Sumner C, Hoover-Fong JE. TRPV4-Associated Disorders. 2014 May 15. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
  53. Davis et al. (2011) Nature Genetics 43 (3):189-96 (PMID: 21258341)
  54. Schmidts et al. (2013) Am. J. Hum. Genet. 93 (5):932-44 (PMID: 24183451)
  55. Duran et al. (2017) Cilia 6 :7 (PMID: 28400947)
Prenatal Limb Abnormalities Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

NIPBL, SALL1, SALL4, TBX5, TP73L (TP63)
  • 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
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

937
3 weeks
20 mg CVS
20 mL Amniotic Fluid|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 ug DNA Concentration

Billing

81265x1, 81405x1, 81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Urban M, et al. Am J Med Genet. 2001 Jul 22;102(1):73-5.
  2. Huang WH, Porto M. Obstet Gynecol. 2002 May;99(5 Pt 2):956-8.
  3. 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.
  4. 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.
  5. 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.
  6. Tongsong T, Chanprapaph P., J Clin Ultrasound. 2000; 28: 98–100.
  7. Sepulveda W, Enriquez G, Martinez JL, Mejia R., J Ultrasound Med. 2004; 23: 983–7.
  8. 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.
  9. Kline et al. (1993) Am J Med Genet 47:1042-1049.
  10. McDermott, D. et al., Pediatr Res. 58: 981-86, 2005.
  11. Gillis et al. (2004) Am J Hum Genet 75:610-623.
  12. Borck et al. (2006) Hum Mutat 27:731-735.
  13. Minor et al. (2014) Gene537:279-284.
  14. Castronovo et al. (2010) Clin Genet 78:560-564.
  15. Niu et al. (2006) Prenat Diagn 26:1054-1057.
  16. Weichert et al. (2011) J Mat Fetal Neonat Med 24(7):978-982.
  17. Botzenhart, E. et al., Human Mutation 26:282, 2005.
  18. Miertus, J. et al., Hum Genet. 119: 154-161, 2006.
  19. Marlin, S. et al., Human Mutation 14: 377-386, 1999.
  20. Borozdin, W. et al., Human Mutation 867(Online) 2006.
  21. Borozdin, W. et al., J Med Genet. 41(9):e113, 2004.
  22. Kohlhase J. et al., J Med Genet. 40:473-478, 2003.
  23. Akrami, SM. et al. J Med Genet. 38:E44, 2001.
  24. Fan, C. et al. J Med Genet. 40:e29, 2003.
  25. 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

  • 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
  • Capillary Sequencing

Ordering

2553
2-3 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|4 Ug DNA Concentration

Billing

81407x1, 81265x1
Yes
Yes
  • 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

References

  1. Jouet, M. (1994) Nature Genet. 7: 402-407, 1994
  2. Finckh, U. (2000) Am. J. Med. Genet. 92: 40-46
  3. Jackson, SR. (2009) Pediatr Surg Int. 25(9):823-5
  4. 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

  • 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
  • Capillary Sequencing
  • Exon Array Dx

Ordering

2553E
2-3 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|6 Ug DNA Concentration

Billing

81407x1, 81265x1, 81479x1
Yes
Yes
  • 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

References

  1. Jouet, M. (1994) Nature Genet. 7: 402-407, 1994
  2. Finckh, U. (2000) Am. J. Med. Genet. 92: 40-46
  3. Jackson, SR. (2009) Pediatr Surg Int. 25(9):823-5
  4. 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

SHH, SIX3, TGIF, ZIC2
  • 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
  • MLPA
  • Next-Gen Sequencing

Ordering

2373
2-3 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 Ug DNA Concentration

Billing

81265x1, 81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

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

Forms and Documents

Test Info Sheet Test Requisition

Test Details

AMPD2, CASK, CHMP1A, EXOSC3, OPHN1, RARS2, RELN, SEPSECS, TSEN15, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB2B, TUBB3, VLDLR, VPS53, VRK1
  • Prenatal imaging findings suggestive of pontocerebellar hypoplasia
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

J802
3 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 Ug DNA Concentration

Billing

81265x1, 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com
Prenatal Lissencephaly Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

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
  • Prenatal imaging findings suggestive of lissencephaly
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

J793
3 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 Ug DNA Concentration

Billing

81404x2, 84105x2, 81406x2, 81407x1
No
Yes
* For price inquiries please email zebras@genedx.com
Prenatal Joubert Syndrome and Related Disorders Panel
Prenatal FMR1 CGG Repeat Analysis

Forms and Documents

Test Requisition Test Info Sheet

Test Details

  • Testing for fetuses at increased risk for Fragile X syndrome based on family history
  • PCR Fragment Analysis

Ordering

TF32
2 weeks
20 mL Amniotic Fluid | 2 T25 flasks of cultured amniocytes | 20 mg CVS | 2 T25 flasks of cultured chorionic villi | Direct or Cultured POC
3 ug Extracted DNA

Billing

81243x1, 81265x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
Prenatal Dosage Analysis of SMN1 and SMN2

Forms and Documents

Test Requisition Test Info Sheet

Test Details

SMN1, SMN2
  • ​Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with treatment/ management decisions
  • Recurrence risk assessment
  • MLPA

Ordering

TF33
2 weeks
20 mL Amniotic Fluid | 2 T25 flasks of cultured amniocytes | 20 mg CVS | 2 T25 flasks of cultured chorionic villi | Direct or Cultured POC
Ug DNA Concentration

Billing

81265x1; 81337x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
Prenatal AR Repeat Analysis

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • Testing for fetuses at increased risk for spinal and bulbar muscular atrophy based on family history
  • PCR Fragment Analysis

Ordering

TF71
2 weeks
20 mL Amniotic Fluid | 2 T25 flasks of cultured amniocytes | 20 mg CVS | 2 T25 flasks of cultured chorionic villi | Direct or Cultured POC
Ug DNA Concentration

Billing

81174x1; 81265x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
Prenatal DMPK Repeat Analysis

Forms and Documents

Test Requisition Test Info Sheet

Test Details

  • Molecular confirmation of a clinical diagnosis
  • PCR Fragment Analysis

Ordering

TG16
2 weeks
20 mL Amniotic Fluid | 2 T25 flasks of cultured amniocytes | 20 mg CVS | 2 T25 flasks of cultured chorionic villi | Direct or Cultured POC
Ug DNA Concentration

Billing

81265x1; 81403x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

Ambiguous Genitalia

Prenatal NR5A1 Gene Sequencing

Forms and Documents

Test Requisition Specimen Requirements Test Info Sheet

Test Details

  • 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
  • Capillary Sequencing

Ordering

746
2-3 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 Ug DNA Concentration

Billing

81479x1, 81265x1
No
No
* For price inquiries please email zebras@genedx.com
Prenatal SRY Gene Sequencing

Forms and Documents

Specimen Requirements Test Info Sheet Test Requisition

Test Details

  • 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
  • Capillary Sequencing

Ordering

409
2-3 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 Ug DNA Concentration

Billing

81400x1, 81265x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

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

Forms and Documents

Test Info Sheet

Test Details

  • Ambiguous Gender

Ordering

J720
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Dried Blood Spots | Buccal Swabs

Billing

81400x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Sarafoglou et al., (2000) J Clin Endocrinol Metab 85:483-493.
  2. Hawkins, J. (1992) Am J Hum Genet 51: 979-984.
  3. Scherer et al., (1998) Cytogenet Cell Genet 80:188-192.
  4. Tagliarini et al., (2005) Braz J Med Bio Res 38:17-25.
  5. Paris et al., (2007) Fertil Steril 88:1437e21-25.
  6. Cameron, et al., (1997) Hum Mutat 9: 388-395.
  7. 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

  • 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
  • Capillary Sequencing

Ordering

907
2-3 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 Ug DNA Concentration

Billing

84311x1, 88291x1, 88271x20
No
No
* For price inquiries please email zebras@genedx.com
Prenatal AR Gene Sequencing

Forms and Documents

Specimen Requirements Test Info Sheet Test Requisition

Test Details

  • 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
  • Capillary Sequencing

Ordering

2201
2-3 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 Ug DNA Concentration

Billing

81173x1, 81265x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Ahmed et al., (2000) JCEM. 85:658-665
  2. Batch et al., (1992) Hum Molec Genet 1:497-503
  3. Hiort et al., (1994) Eur J Pediatr 153:317-321
  4. Albers et al., (1997) J Pediatr 131:386-392
  5. Wang et al., (2004) Eur J Hum Genet 12:706-712
  6. Avila et al., (2002) JCEM 87:182-188
  7. Hannema et al., (2004) JCEM 89:5815-5822
  8. Gottlieb et al (2004) Hum Mutat 23:527-533
  9. 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

  • 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
  • Capillary Sequencing

Ordering

702
2-3 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 Ug DNA Concentration

Billing

81479x1, 81265x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Maimoun et al., (2011) J Clin Endocrinol Metab 96:296-307.
  2. Thigpen et al., (1992) J Clin Invest 90:799-809.
  3. Hackel et al., (2005) J Mol Med 83:569-576.
  4. Vilchis et al., (2010) J Androl 31:358-364.
  5. Sasaki et al., (2003) J Clin Endocrinol Metab 88:3431-3436.
  6. Wang et al., (2004) Eur J Hum Genet 12:706-712.
  7. Andersson et al., (1991) Nature 354:159-161.
  8. Mazen et al., (2003) Clin Endocrinol 58:627-631.
  9. 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

AR, ARX, ATRX, CHD7, CYP11A1, CYP17A1, DHCR7, DHH, DYNC2H1, HSD17B3, HSD3B2, NEK1, NR5A1, POR, SOX9, SRD5A2, SRY, STAR, WT1
  • Genital ambiguity or discordant external genitalia

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.

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

J719
3 weeks
20 mL Amniotic Fluid | 2 T25 flasks of cultured amniocytes | 20 mg CVS | 2 T25 flasks of cultured chorionic villi | Direct or Cultured POC
3 ug Extracted DNA

Billing

81173x1, 81400x1, 81404X1, 81405x1, 81407x1, 81265x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Gottlieb, Beitel, Trifiro. Androgen Insensitivity Syndrome. 1999 Mar 24 [Updated 2014 Jul 10]. In: Pagon, RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
  2. Shoubridge et al., (2010) Patho Genetics 3:1 (PMID: 20148114).
  3. Wada et al. (2013) AJNR Am J Neuroradiol 34 (10):2034-8 (PMID: 23681356)
  4. Kim et al., (2008) American Journal of Human Genetics 83(4):511-519 (PMID: 18834967)
  5. Ghizzoni et al. (2011) Endocrine Development 20 :54-62 (PMID: 21164259)
  6. Kim et al. (2008) J. Clin. Endocrinol. Metab. 93 (3):696-702 (PMID: 18182448)
  7. Zhang et al. (2015) J. Steroid Biochem. Mol. Biol. 150 :11-6 (PMID: 25697092)
  8. Yao et al. (2013) Gynecol. Endocrinol. 29 (1):10-5 (PMID: 22954317)
  9. Nowaczyk. Smith-Lemli-Opitz Syndrome. 1998 Nov 13 [Updated 2013 Jun 20]. In: Pagon, RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
  10. Canto et al. (2004) The Journal Of Clinical Endocrinology And Metabolism 89 (9):4480-3 (PMID: 15356051)
  11. Das et al., (2011) Eur J Med Genet 54(6):e529-534 (PMID: 21816240)
  12. Andola et al., (2015) British Journal of Medicine & Medicine Research 9(12):1-8.
  13. Lindqvist et al. (2001) The Journal Of Clinical Endocrinology And Metabolism 86 (2):921-3 (PMID: 11158067)
  14. Mendonca et al. (2016) J. Steroid Biochem. Mol. Biol. : (PMID: 27163392)|
  15. Moisan et al. (1999) J. Clin. Endocrinol. Metab. 84 (12):4410-25 (PMID: 10599696)
  16. Simard et al. (2000) Endocr. Res. 26 (4):761-70 (PMID: 11196452)
  17. Thiel et al., (2011) American Journal of Human Genetics 88(1):106-114 (PMID: 21211617)
  18. Mohnach L, Fechner PY, Keegan CE. Nonsyndromic Disorders of Testicular Development. 2008 May 21 [Updated 2016 Jun2]. In: Pagon, RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
  19. Cragun D, Hopkin RJ. Cytochrome P450 Oxidoreductase Deficiency. 2005 Sep 8 [Updated 2009 Aug 18]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013.
  20. Mansour et al., (1995) Journal of Medical Genetics 32(6):415-420 (PMID: 7666392)
  21. Maimoun et al., (2011) The Journal of Clinical Endocrinology and Metabolism 96(2):296-307 (PMID: 21147889)
  22. Lin et al., (1991) J Clin Invest 88:1955-1962 (PMID: 1661294)
  23. Bose et al., (1996) New Engl J Med 335:1870-1878 (PMID: 8948562)
  24. Dome JS, Huff V. Wilms Tumor Predisposition. 2003 Dec 19 [Updated 2016 Oct 20]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
  25. Cassia Amaral et al., (2015) Clin Endocrinol (Oxf) 82(2):274-279 (PMID: 25074426)
  26. Umehara et al., (2000) Am J Hum Genet 67:1302-1305 (PMID: 11017805)
  27. Boehmer et al. (1999) The Journal Of Clinical Endocrinology And Metabolism 84 (12):4713-21 (PMID: 10599740)
  28. Cohen-Kettenis, et al. (2005) Archives Of Sexual Behavior 34 (4):399-410 (PMID: 16010463)
  29. Merrill et al., (2009) American Journal of Human Genetics 84(4):542-549 (PMID: 19361615)
  30. Fukami et al. (2005) The Journal Of Clinical Endocrinology And Metabolism 90 (1):414-26 (PMID: 15483095)
  31. Mansour et al., (2002) Journal of Medical Genetics 39(8):597-602 (PMID: 12161603)
  32. Lalani et al., (2006) American Journal of Human Genetics 78(2):303-314 (PMID: 16400610)
  33. Ruf et al. (2004) Kidney Int. 66 (2):564-70 (PMID: 15253707)
  34. Eddy and Mauer (1985) J. Pediatr. 106 (4):584-7 (PMID: 2984395)
  35. Dao et al. (1987) Am. J. Hum. Genet. 41 (2):202-17 (PMID: 3039839)
  36. Mueller (1994) J. Med. Genet. 31 (6):471-7 (PMID: 8071974)
  37. Barbaux et al. (1997) Nature Genetics 17 (4):467-70 (PMID: 9398852)
  38. Ezaki et al. (2015) Cancer Prev Res (Phila) 8 (4):271-6 (PMID: 25623218)
  39. Ono and Harley (2013) Nat Rev Endocrinol 9(2):79-91 (PMID: 23296159)

Multiple Congenital Anomalies

Prenatal Tuberous Sclerosis Panel

Forms and Documents

Test Requisition Specimen Requirements Test Info Sheet

Test Details

TSC1, TSC2
  • 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.
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

934
2-3 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|4 Ug DNA Concentration

Billing

81405x1, 81406x2, 81407x1, and 81265x1
Yes
No
* For price inquiries please email zebras@genedx.com

References

  1. 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
  2. Roach and Sparagano (2004) J Child Neurol 19:643-649. Gusman et al., (2012) Case Reports in Pediatrics 2012: 925646.
  3. Sciacca et al., (2014) BMC Cardiovasc Disord 14:66. Tsai et al., (2014) Cereb Cortex 24(2):315-327.
  4. Prabowo et al., (2013) Brain Pathology 23(1):45-59. Saada et al., (2009) Ultrasound Obstet Gynecol 34(4):489.
  5. Rose et al., (1999) Am J Hum Genet 64:986-992.
  6. Qin et al., (2010) Hum Genet 127:573-582.
  7. Mayer et al., (2013) Eur J Hum Genet e1–e4; doi:10.1038/ejhg.2013.129.
  8. Kozlowski et al., (2007) Hum Genet 121:389-400.
  9. Jones et al., (1999) Am J Hum Genet 64:1305-1315.
  10. Dabora et al., (2001) Am J Hum Genet 68:64-80.
  11. Sancak et al., (2005) Eur J Hum Genet 13:731-741.
  12. Au et al., (2007) Genet Med 9:88-100.
  13. 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

  • 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.
  • Capillary Sequencing

Ordering

2503
2-3 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 Ug DNA Concentration

Billing

81405x1, 81265x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Witsch-Baumgartner et al., (2000) Am J Hum Genet 66:402-412
  2. Correa-Cerro et al., (2005) Mol Gen Metab 84:112-26;
  3. Yu, H. and Patel, S.B., (2005) Clin Genet 68:383-91
  4. Goldenberg A, et al., Am J Med Genet A. 2004; 124: 423–6.
  5. Rossiter et al., (1995) Am J Med Genet 56:272-5.
  6. 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

  • 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
  • Capillary Sequencing

Ordering

2262
2-3 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 Ug DNA Concentration

Billing

81407x1, 81265x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Stromland et al., (2005) Am J Med Genet 133A:331-339
  2. Vissers et al., (2004) Nat Genet 36:955- 957
  3. Jongmans et al., (2006) J Med Genet 43:306-314
  4. 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

  • 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
  • Capillary Sequencing

Ordering

663
2-3 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 Ug DNA Concentration

Billing

81404x1, 81265x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Achermann et al., (2001) Molec Cell Endocrinol 185:17-25.
  2. Mantovani et al., (2002) J Clin Endocrinol Metab 87:44-48.
  3. Merke et al., (1999) NEJM 340:1248-1252.
  4. Seminara et al., (1999) J Clin Endocrinol Metab 84:4501- 4509.
  5. Shaikh et al., (2008) J Med Genet 45:e1.
  6. Barbaro et al., (2008) Clin Genet 73:453-464.
  7. Zhang et al., (1998) Am J Hum Genet 62:855-864.
  8. Ho et al., (2004) Mol Genet Metab 83:330-336.
  9. McCabe ERB (2007) Mol Cell Endocrinol 265- 266:179-182.
  10. Muscatelli et al., (1994) Nature 372:672-676.
  11. Lin et al., (2006) J Clin Endocrinol Metab 91:3048-3054.
  12. Salvi et al., (2002) J Clin Endocrinol Metab 87:4094-4100.
  13. Bardoni et al., (1994) Nat Genet 7:497-501.
  14. 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

OTX2, SOX2, VSX2 (CHX10)
  • Full sequencing testing for fetuses with prenatal ultrasound findings suggestive of anophthalmia/microphthalmia
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

428
2-3 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 Ug DNA Concentration

Billing

81265x1, 81479x3
No
Yes
  • 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

References

  1. Forrester and Merz (2006) Birth Defects Res A Clin Mol Terato 76:187-192
  2. Williamson, KA et al. (2006) Hum Mol Genet 15(9):1413
  3. Hagstrom SA et al. (2005) Am J Med Genet (2005) 138(2):95
  4. Fantes, J et al (2003) Nature Genetics 33:462
  5. Gallardo ME et al., (1999) Genomic 61:82
  6. Gallardo, ME et al., (2004) Am J Med Genet 129A:92
  7. Bennett CP (1991) J Med Genet 1991;28:280-1
  8. Elliott J et al., (1993) 30(3):251-2
  9. Wyatt A et al., (2008) Hum Mutat. (2008) 29(11):E278-83
  10. Ragge NK et al., (2007) Eye 21(10):1290-300
  11. Bar-Yosef U et al., (2004) Hum Genet 115: 302–309
  12. Schneider et al. (2009) Am J Med Genet 149A(12)2706-2715
  13. Bakrania et al. (2007) Br J Ophthalmol 91:1471-17476
  14. E. Ferda Percin et al., (2000) Nat Genet 25(4):397-401
  15. Aijaz S et al (2004) Invest Ophthalmol Vis Sci. 45(11):3871-6
  16. 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

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

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.

  • Next-Gen Sequencing

Ordering

959
3-4 weeks
30 mL Amniotic Fluid
30 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|15 µg DNA Concentration

Billing

81415, 81416x2, 81265
Yes
No
* For price inquiries please email zebras@genedx.com
XomeDxPrenatal Comprehensive

Forms and Documents

Test Requisition Family Member Test Requisition Fact Sheet Test Info Sheet

Test Details

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

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.

  • Next-Gen Sequencing

Ordering

J499
3-4 weeks
30 mL Amniotic Fluid
30 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|15 µg DNA Concentration

Billing

81415, 81416x2, 81265
Yes
No
* For price inquiries please email zebras@genedx.com

Prenatal Known Variant Testing

Prenatal Known Familial Mutation (includes MCC)

Forms and Documents

Test Requisition

CREATE A CUSTOM PANEL

Test Details

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

Ordering

902
2 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|4 Ug DNA Concentration

Billing

Varies by Gene
Yes
Yes
* For price inquiries please email zebras@genedx.com