Microphthalmia with Extremity Anomaly

TEST CODE MG10500
TEST NAME Microphthalmia with Extremity Anomaly
RELATED GENE SMOC1
SYNONYMOUS SMOC1
OMIM 206920
HEREDITY Autosomal Recessive
CLINICAL AREA Microphthalmia with Limb Anomaly is a disease inherited in an autosomal recessive manner. Mutations in the SMOC1 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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