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Test Code 6088

TNXB-Related Disorders via the TNXB Gene, Exons 32-44

TNXB

3 - 4 weeks (12 - 20 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), especially when next-generation sequencing (NGS) has limitations in analyzing exons 32-44 of TNXB accurately due to paralogous sequence
  • Individuals with suspected gene conversions or unequal crossing over events affecting exons 32-44 of TNXB, especially when CAH-X syndrome is suspected
  • Family members of individuals with known pathogenic variants in exons 32-44 of TNXB
  • Reproductive partners of individuals with a known pathogenic variant in TNXB
Method
Sanger Sequencing
Specimen(s)

Blood, Buccal, Saliva, Tissue

Order Options

OTHER OPTIONS
for pricing.

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