Cystinosis
TEST CODE | MG02720 |
TEST NAME | Cystinosis |
RELATED GENE | CTNS |
SYNONYMOUS | CTNS |
OMIM | 606272 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Sistinozis otozomal resesif olarak kalıtılan bir hastalıktır. CTNS genindeki mutasyonlar hastalıkla ilişkilendirilmiştir. |
METHOD | Next Generation Sequencing |
SAMPLE TYPE | Blood with EDTA |
QUANTITY | 3 ml |
TAT | 40 DAYS |
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