Heritable Disorders of Connective Tissue Panel

ATTENTION: Effective August 27, 2024, this test is available for institutional billing and self-pay only. Insurance billing not accepted.

NY Approved

Test Overview

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

Test Details

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

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

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering Information

Important Information

ATTENTION: Effective August 27, 2024, this test is available for institutional billing and self-pay only. Insurance billing not accepted.

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.

**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.

Resources

Test Documents

Billing

For Providers

Targeted Variant Testing

FAQs