Ehlers-Danlos Syndrome

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 Details

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
  • 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
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

J555
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81410x1, 81411x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

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

Customizable Cardiology Panel

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

J779
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

Varies by gene
No
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • 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

Customizable Cardiology Panel

  • ExonArray CGH
  • Next-Gen Sequencing

Ordering

J555C
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81410x1, 81411x1
No
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

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
  • 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
  • Next-Gen Sequencing
  • ExonArray CGH

Ordering

883RE
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81408x2; 81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

COL3A1, COL5A1, COL5A2
  • 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
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

T998
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

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