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Test Code 1289

Shwachman-Diamond Syndrome via the SBDS Gene

SBDS

3 - 4 weeks (12 - 19 days STAT)

Who is this test for?
  • Individuals with relevant features who have a clinical or suspected diagnosis of Shwachman-Diamond syndrome
  • Individuals with a family history of Shwachman-Diamond syndrome wanting to determine carrier status
  • Reproductive partners of individuals with a known pathogenic variant in the SBDS gene
Method
Sanger Sequencing
Specimen(s)

Blood, Buccal, Saliva, Tissue

Order Options

OTHER OPTIONS
for pricing.

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