Rest of Heritable Disorders of Connective Tissue after Marfan/TAAD Panel

New York
Approved

Genes

ADAMTS2, AEBP1, ALDH18A1, ATP6V0A2, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL4A1, COL9A1, COL9A2, COL9A3, DSE, EFEMP2, ELN, FBLN5, FKBP14, LTBP4, PLOD1, PRDM5, PYCR1, RIN2, SLC39A13, TAB2, TNXB, ZNF469

Conditions

  • Congenital Contractural Arachnodactyly
  • Cutis Laxa
  • Ehlers-Danlos Syndrome
  • Homocystinuria due to Cystathionine Beta-Synthase Deficiency
  • Loeys-Dietz syndrome (LDS)
  • Marfan Syndrome/LDS/Related Disorders
  • Multiple Epiphyseal Dysplasia (MED)
  • Occipital Horn Disease
  • Arterial Tortuosity syndrome
  • Shprintzen-Goldberg syndrome
  • Stickler syndrome
  • Thoracic Aortic Aneurysm and Dissection (TAAD) and Related Disorders
  • Non-ocular stickler (STL3) / otospondylomegaepiphyseal dysplasia (OSMED)/ DFNA13/ DFNB53
  • Brittle Cornea syndrome
  • Fibrochondrogenesis
  • Marshall syndrome
  • Spondyloepiphyseal dysplasia spectrum disorders
  • Weissenbach-Zweymuller syndrome

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

Lab Method

  • Next-Gen Sequencing
  • ExonArray CGH

Test Code

883RE

CPT Codes*

81408x2; 81479x1

ABN Required

No

Turnaround Time**

4 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs

*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.

**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.

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