Myofibrillar Myopathy Type 1

TEST CODE MG02210
TEST NAME Myofibrillar Myopathy Type 1
RELATED GENE DES
SYNONYMOUS DES
OMIM 601419
HEREDITY Autosomal Dominant/Autosomal Recessive
CLINICAL AREA Myofibrillar Myopathy Type 1 is a disease that is inherited as Autosomal Dominant or Autosomal Recessive. Mutations in the DES 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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