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Test Code 7533

TNXB-Related Disorders via the TNXB Gene

TNXB

2 - 3 weeks (7 - 16 days STAT)

Who is this test for?
  • Individuals with a clinical or suspected diagnosis of classical-like Ehlers-Danlos syndrome (clEDS) or hypermobility EDS (hEDS)
  • Individuals with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) and hypermobility EDS (hEDS) (also known as CAH-X syndrome)
  • Individuals with a family history of TNXB-related disorders
  • Reproductive partners of individuals with a known pathogenic variant in the TNXB gene
Method
NGS with CNV (Exome or Genome Platform)
Specimen(s)

Exome Platform: Blood, DNA, Buccal, Saliva, Tissue

Genome Platform: Blood, DNA

Order Options

Platform
Test type
OTHER OPTIONS
for pricing.

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