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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