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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