Ehler Danlos Syndrome Musculocontractural Type

TEST CODE MG03610
TEST NAME Ehler Danlos Syndrome Musculocontractural Type
RELATED GENE CHST14
SYNONYMOUS CHST14
OMIM 601776
HEREDITY Autosomal Recessive
CLINICAL AREA Ehler Danlos Syndrome is a Musculocontractural Type Autosomal Recessive inherited disease. Mutations in the CHST14 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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