Spastic Paraplegia type 44

TEST CODE MG08180
TEST NAME Spastic Paraplegia type 44
RELATED GENE GJC2
SYNONYMOUS GJC2
OMIM 613206
HEREDITY Autosomal Recessive
CLINICAL AREA Spastic Paraplegia type 44 is an Autosomal Recessively inherited disease. Mutations in the GJC2 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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