Lesch-Nyhan Syndrome

TEST CODE MG07680
TEST NAME Lesch-Nyhan Syndrome
RELATED GENE HPRT1
SYNONYMOUS HPRT1
OMIM 300322
HEREDITY X linked Recessive
CLINICAL AREA Lesch-Nyhan Syndrome is an X-linked Recessively inherited disease. Mutations in the HPRT1 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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