Brown - Vialetto - Van Laere Syndrome 1

TEST CODE MG05120
TEST NAME Brown – Vialetto – Van Laere Syndrome 1
RELATED GENE SLC52A3
SYNONYMOUS SLC52A3
OMIM 211530
HEREDITY Autosomal Recessive
CLINICAL AREA Brown-Vialetto-Van Laere Syndrome 1 is an autosomal recessively inherited disease. Mutations in the SLC52A3 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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