Klippel-Feil Syndrome 2

TEST CODE MG07610
TEST NAME Klippel-Feil Syndrome 2
RELATED GENE MEOX1
SYNONYMOUS MEOX1
OMIM 600147
HEREDITY Autosomal Recessive
CLINICAL AREA Klippel-Feil Syndrome 2 is an Autosomal Recessively inherited disease. Mutations in the MEOX1 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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