GeneDx

The Ehlers-Danlos syndromes (EDS) are a group of heritable disorders of connective tissue with at least 13 defined types. This panel tests for classical EDS and vascular EDS. Classical EDS (cEDS) is typically characterized by joint hypermobility, skin hyperextensibility, and widened atrophic scarring. Vascular EDS (vEDS) is typically characterized by arterial aneurysm/dissection/rupture, spontaneous bowel perforation, and/or uterine rupture in pregnancy. Phenotypic variability occurs in both conditions and additional connective tissue features may also be present, such as easy bruising and thin/fragile skin. A family history of cEDS or vEDS is informative when present but does not exclude the diagnosis, as approximately 50% of cases are due to de novo occurrence of a pathogenic variant.

Tests Available

Forms and Documents

Test Info Sheet LOMN HDCT Test Requisition

Test Details

Genes:

Expand Genes

ACTA2, ADAMTS2, ALDH18A1, ATP6V0A2, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, CBS, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, LOX, LTBP4, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRDM5, PRKG1, PYCR1, RIN2, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469

Disorders:

Clinical Utility:

Molecular confirmation of a clinical diagnosis in symptomatic individuals
Risk assessment of asymptomatic family members of a proband diagnosed with a heritable connective tissue disorder
Genetic counseling and recurrence risk determination

Ordering

Test Code:

J555

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

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

Billing

CPT Codes** :

81410x1, 81411x1

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.

Forms and Documents

Test Requisition Test Info Sheet

CREATE A CUSTOM PANEL

Test Details

Disorders:

Clinical Utility:

Confirmation of clinical diagnosis in symptomatic patients
Genetic counseling and risk assessment of asymptomatic family members of a proband with a hereditary cardiovascular condition

Notes:

Customizable Cardiology Panel

Ordering

Test Code:

J779

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

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

Billing

CPT Codes** :

Varies by gene

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.

Forms and Documents

Test Requisition Test Info Sheet LOMN HDCT Specimen Requirements

CREATE A CUSTOM PANEL

Test Details

Disorders:

Clinical Utility:

Molecular confirmation of a clinical diagnosis in symptomatic individuals
Risk assessment of asymptomatic family members of a proband diagnosed with a heritable connective tissue disorder
Genetic counseling and recurrence risk determination

Notes:

Customizable Cardiology Panel

Ordering

Test Code:

J555C

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

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

Billing

CPT Codes** :

81410x1, 81411x1

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.

Forms and Documents

Test Requisition

Test Details

Genes:

Expand Genes

ADAMTS2, ALDH18A1, ATP6V0A2, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, DSE, EFEMP2, ELN, FBLN5, FBN1, FKBP14, LTBP4, PLOD1, PRDM5, PYCR1, RIN2, SLC39A13, TNXB, ZNF469

Disorders:

Clinical Utility:

Molecular confirmation of a clinical diagnosis in symptomatic individuals
Risk assessment of asymptomatic family members of a proband diagnosed with a heritable connective
tissue disorder
Genetic counseling and recurrence risk determination

Ordering

Test Code:

883RE

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

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

Billing

CPT Codes** :

81408x2; 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.

Forms and Documents

Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

COL3A1, COL5A1, COL5A2

Disorders:

Clinical Utility:

Molecular confirmation of a clinical diagnosis in symptomatic individuals
Risk assessment of asymptomatic family members of a proband diagnosed with Ehlers-Danlos syndrome
Genetic counseling and recurrence risk determination

Ordering

Test Code:

T998

Turnaround Time *:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

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

Billing

CPT Codes** :

81408x1

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.

Testing Catalog

Ehlers-Danlos Syndrome

Tests Available

Forms and Documents

Test Details

Ordering

Billing

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

Ordering

Billing

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

Ordering

Billing

Forms and Documents

Test Details

Ordering

Billing

Forms and Documents

Test Details

Ordering

Billing