Heritable Disorders of Connective Tissue Panel

New York
Approved


Genes

ACTA2, ADAMTS2, AEBP1, ALDH18A1, ATP6V0A2, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, CBS, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, 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, TAB2, TGFB2, TGFB3, TGFBR1, TGFBR2, 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
  • Classical Ehlers-Danlos syndrome
  • Vascular Ehlers-Danlos syndrome
  • 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

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Test Code

J555

CPT Codes*

81410x1, 81411x1

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.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.