Brown - Vialetto - Van Laere Syndrome 2

TEST CODE MG04490
TEST NAME Brown – Vialetto – Van Laere Syndrome 2
RELATED GENE SLC52A2
SYNONYMOUS SLC52A2
OMIM 614707
HEREDITY Autosomal Recessive
CLINICAL AREA Brown-Vialetto-Van Laere Syndrome Type 2 is an Autosomal Recessively inherited disease. Mutations in the SLC52A2 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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