Bardet-Biedl Syndrome 12
TEST CODE | MG10350 |
TEST NAME | Bardet-Biedl Syndrome 12 |
RELATED GENE | BBS12 |
SYNONYMOUS | BBS12 |
OMIM | 615989 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Bardet-Biedl Syndrome 12 is an Autosomal Recessively inherited disease. Mutations in the BBS12 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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