Ehlers-Danlos Syndrome Type 7A

TEST CODE MG04650
TEST NAME Ehlers-Danlos Syndrome Type 7A
RELATED GENE COL1A1
SYNONYMOUS COL1A1
OMIM 130060
HEREDITY Autosomal Dominant
CLINICAL AREA Ehlers-Danlos Syndrome Type 7A is an autosomal dominantly inherited disease. Mutations in the COL1A1 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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