Gorlin-Goltz Syndrome

TEST CODE MG01210
TEST NAME Gorlin-Goltz Syndrome
RELATED GENE PTCH1
SYNONYMOUS PTCH1
OMIM 109400
HEREDITY Autosomal Dominant
CLINICAL AREA Gorlin – Goltz Syndrome is a disease inherited in an autosomal dominant manner. Mutations in the PTCH1 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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