Ehlers-Danlos Syndrome Type 3

TEST CODE MG00910
TEST NAME Ehlers-Danlos Syndrome Type 3
RELATED GENE TNXB
SYNONYMOUS TNXB
OMIM 606408
HEREDITY Autosomal Recessive
CLINICAL AREA Ehlers – Danlos Syndrome (EDSCLL) is an Autosomal Recessively inherited disease. Mutations in the TNXB 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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