COL2A1 Sequence Analysis

TEST CODE MG03330
TEST NAME COL2A1 Sequence Analysis
RELATED GENE COL2A1
SYNONYMOUS COL2A1
OMIM 108300
HEREDITY Autosomal Dominant
CLINICAL AREA Stickler syndrome is an autosomal dominantly inherited disease. Mutations in the COL2A1 gene have been associated with the disease.
METHOD Next Generation Sequencing
SAMPLE TYPE Blood with EDTA
QUANTITY 3 mL
TAT 40 DAYS

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