Ehlers-Danlos Syndrome Type 6

TEST CODE MG00930
TEST NAME Ehlers-Danlos Syndrome Type 6
RELATED GENE PLOD1
SYNONYMOUS PLOD1
OMIM 153454/225400
HEREDITY Autosomal Recessive
CLINICAL AREA Ehlers – Danlos Syndrome (EDSKSCL1) is an Autosomal Recessively inherited disease. Mutations in the PLOD1 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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