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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