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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