Kabuki Syndrome 2

TEST CODE MG07930
TEST NAME Kabuki Syndrome 2
RELATED GENE KDM6A
SYNONYMOUS KDM6A
OMIM 300128
HEREDITY X’e Bağlı Dominant
CLINICAL AREA Kabuki Syndrome 2 is an autosomal dominantly inherited disease. Mutations in the KMT26A 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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