Klippel-Feil Syndrome
TEST CODE | MG03770 |
TEST NAME | Klippel-Feil Syndrome |
RELATED GENE | GDF6 |
SYNONYMOUS | GDF6 |
OMIM | 118100 |
HEREDITY | Autosomal Dominant |
CLINICAL AREA | Klippel-Feil Syndrome is an autosomal dominantly inherited disease. Mutations in the GDF6 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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