Haim-Munk Syndrome

TEST CODE MG08290
TEST NAME Haim-Munk Syndrome
RELATED GENE CTSC
SYNONYMOUS CTSC
OMIM 245010
HEREDITY Autosomal Recessive
CLINICAL AREA Haim-Munk Syndrome is an Autosomal Recessively inherited disease. Mutations in the CTSC 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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