HYPOTHYROIDISM, CONGENITAL, NOT RELATED TO GOITR, 2; CHNG2
| TEST CODE | MG09850 |
| TEST NAME | HYPOTHYROIDISM, CONGENITAL, NOT RELATED TO GOITR, 2; CHNG2 |
| RELATED GENE | PAX8 |
| SYNONYMOUS | PAX8 |
| OMIM | 218700 |
| HEREDITY | Autosomal Dominant |
| CLINICAL AREA | Hypothyroidism (congenital, non-goiter-related, 2; CHNG2) is an autosomal dominantly inherited disease. Mutations in the PAX8 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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