Acrodystrophy Andermann Syndrome

TEST CODE MG09510
TEST NAME Acrodystrophy Andermann Syndrome
RELATED GENE SLC12A6
SYNONYMOUS SLC12A6
OMIM 218000
HEREDITY Autosomal Recessive
CLINICAL AREA Acrodystrophy Andermann Syndrome is a disease inherited in an autosomal recessive manner. Mutations in the SLC12A6 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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