Schuurs-Hoeijmakers Syndrome
TEST CODE | MG08920 |
TEST NAME | Schuurs-Hoeijmakers Syndrome |
RELATED GENE | PACS1 |
SYNONYMOUS | PACS1 |
OMIM | 607492 |
HEREDITY | Autosomal Dominant |
CLINICAL AREA | Schuurs-Hoeijmakers Syndrome is a disease inherited in an autosomal dominant manner. Mutations in the PACS1 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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