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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