RPE65 Gene Screening
TEST CODE | MG06450 |
TEST NAME | RPE65 Gene Screening |
RELATED GENE | RPE65 |
SYNONYMOUS | RPE65 |
OMIM | 180069 |
HEREDITY | Autosomal Dominant, Autosomal Recessive |
CLINICAL AREA | Diseases such as RPE65 gene-related Retinitis Pigmentosa 20/87 and Leber Congenital Amaurosis are inherited as autosomal dominant/autosomal recessive diseases. Mutations in the RPE65 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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