Cutis Laxa Type1A

TEST CODE MG06260
TEST NAME Cutis Laxa Type1A
RELATED GENE FBLN5
SYNONYMOUS FBLN5
OMIM 219100
HEREDITY Autosomal Recessive
CLINICAL AREA Cutis Laxa Type 1A is an Autosomal Recessively inherited disease. Mutations in the FBLN5 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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