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Test Code 10271

Stickler Syndrome Panel

12 genes

2 - 3 weeks (7 - 16 days STAT)

Who is this test for?
  • Individuals with relevant features who have a clinical or suspected diagnosis of Stickler syndrome
  • Individuals with negative results from previous single-gene testing for Stickler syndrome
  • Individuals requiring differential diagnosis between Stickler syndrome and similar skeletal dysplasia disorders
  • Individuals with abnormal prenatal ultrasound findings suggestive of multiple congenital anomalies consistent with Stickler Syndrome, including Pierre-Robin sequence
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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