KCNE1 Whole Gene Sequencing
TEST CODE | MG10510 |
TEST NAME | KCNE1 Whole Gene Sequencing |
RELATED GENE | KCNE1 |
SYNONYMOUS | KCNE1 |
OMIM | 176261 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Carbamyl Phosphate Synthetase Deficiency is an autosomal recessively inherited disease. Mutations in the KCNE1 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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