Fanconi-Bickel Syndrome

TEST CODE MG01000
TEST NAME Fanconi-Bickel Syndrome
RELATED GENE SLC2A2
SYNONYMOUS SLC2A2
OMIM 227810
HEREDITY Autosomal Recessive
CLINICAL AREA Fanconi – Bickel Syndrome (FBS) is an Autosomal Recessively inherited disease. Mutations in the SLC2A2 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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