Pontocerebellar Hypoplasia Type 10

TEST CODE MG08300
TEST NAME Pontocerebellar Hypoplasia Type 10
RELATED GENE CLP1
SYNONYMOUS CLP1
OMIM 608757
HEREDITY Autosomal Recessive
CLINICAL AREA Pontocerebellar Hypoplasia Type 10 is an Autosomal Recessively inherited disease. Mutations in the CLP1 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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