Congeintal Lipodystrophy Type 2

TEST CODE MG09110
TEST NAME Congeintal Lipodystrophy Type 2
RELATED GENE BSCL2
SYNONYMOUS BSCL2
OMIM 269700
HEREDITY Autosomal Recessive
CLINICAL AREA Congeintal Lipodystrophy Type 2 is an Autosomal Recessively inherited disease. Mutations in the BSCL2 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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