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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