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Test Code 1721

Thrombocytopenia Absent Radius (TAR) Syndrome via the RBM8A Gene

RBM8A

3 - 4 weeks (12 - 20 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 known 1q21.1 deletion who need RBM8A sequencing to confirm diagnosis
  • Reproductive partners of individuals with a known pathogenic variant in the RBM8A gene
Method
Sanger Sequencing
Specimen(s)

Blood, Buccal, Saliva, Tissue

Order Options

OTHER OPTIONS
for pricing.

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