Frataxin - FXN Sequence Analysis

TEST CODE MG01070
TEST NAME Frataxin – FXN Sequence Analysis
RELATED GENE FXN
SYNONYMOUS FXN
OMIM 606829
HEREDITY Autosomal Recessive
CLINICAL AREA Friedreich ataxia (FRDA) is an Autosomal Recessively inherited disease. Mutations in the FXN 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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