Microphthalmia Type 5

TEST CODE MG09430
TEST NAME Microphthalmia Type 5
RELATED GENE MFRP
SYNONYMOUS MFRP
OMIM 611040
HEREDITY Autosomal Recessive
CLINICAL AREA Microphthalmia Type 5 is an autosomal recessively inherited disease. Mutations in the MFRP 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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