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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