Spondylometaphyseal Dysplasia Kozlowski Type
TEST CODE | MG06090 |
TEST NAME | Spondylometaphyseal Dysplasia Kozlowski Type |
RELATED GENE | TRPV4 |
SYNONYMOUS | TRPV4 |
OMIM | 605427 |
HEREDITY | Autosomal Dominant |
CLINICAL AREA | Spondylometaphyseal Dysplasia Kozlowski Type is an autosomal dominantly inherited disease. Mutations in the TRPV4 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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