Syndromic Microphthalmia Type 6

TEST CODE MG08840
TEST NAME Syndromic Microphthalmia Type 6
RELATED GENE BMP4
SYNONYMOUS BMP4
OMIM 607932
HEREDITY Autosomal Dominant
CLINICAL AREA Syndromic Microphthalmia Type 6 is an Autosomal Dominant inherited disease. Mutations in the BMP4 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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