Escobar Syndrome
TEST CODE | MG09000 |
TEST NAME | Escobar Syndrome |
RELATED GENE | CHRNG |
SYNONYMOUS | CHRNG |
OMIM | 265000 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Escobar Syndrome is an autosomal recessive disease. Mutations in the CHRNG 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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