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Test Code 1718

Thrombocytopenia Absent Radius (TAR) Syndrome via the RBM8A 1q21.1 Deletion

RBM8A

3 - 5 weeks (6 - 10 days STAT)

Who is this test for?
  • Individuals with relevant features who have a clinical or suspected diagnosis of Thrombocytopenia Absent Radius (TAR) syndrome
  • Individuals with a previously identified RBM8A pathogenic variant requiring deletion/duplication testing
  • Reproductive partners of individuals with a known pathogenic variant in the RBM8A gene
Method
CMA
Specimen(s)

Blood, Buccal, Saliva, Tissue

Order Options

OTHER OPTIONS
for pricing.

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