Ehlers-Danlos Syndrome Type 4

TEST CODE MG00920
TEST NAME Ehlers-Danlos Syndrome Type 4
RELATED GENE COL3A1
SYNONYMOUS COL3A1
OMIM 130050
HEREDITY Autosomal Dominant
CLINICAL AREA Ehlers – Danlos Syndrome (EDSVASC) is an Autosomal Dominant inherited disease. Mutations in the COL3A1 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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