Griselli Syndrome Type 2 RAB27

TEST CODE MG04710
TEST NAME Griselli Syndrome Type 2 RAB27
RELATED GENE RAB27
SYNONYMOUS RAB27
OMIM 607624
HEREDITY Autosomal Recessive
CLINICAL AREA Griselli Syndrome Type 2 is an Autosomal Recessively inherited disease. Mutations in the RAB27 gene have been associated with the disease.
METHOD Next Generation Sequencing
SAMPLE TYPE Blood with EDTA
QUANTITY 3 mL
TAT 30 DAYS

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