Weill-Marchesani Syndrome

TEST CODE MG03000
TEST NAME Weill-Marchesani Syndrome
RELATED GENE ADAMTS10
SYNONYMOUS ADAMTS10
OMIM 277600
HEREDITY Autosomal Recessive
CLINICAL AREA Weill – Marchesani Syndrome is an Autosomal Recessively inherited disease. Mutations in the ADAMTS10 gene have been associated with the disease.
METHOD Next Generation Sequencing
SAMPLE TYPE Blood with EDTA / Skin Biopsy
QUANTITY 3 mL
TAT 30 DAYS

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