Syndromic Microophthalmia Type 2

TEST CODE MG02690
TEST NAME Syndromic Microophthalmia Type 2
RELATED GENE BCOR
SYNONYMOUS BCOR
OMIM 300166
HEREDITY X-linked Dominant
CLINICAL AREA Syndromic Microophthalmia Type 2 is an X-linked dominantly inherited disease. Mutations in the BCOR 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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