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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