Konjenital Nefrotik Sendromu (Fin Tipi) TGDA

TEST CODE MG06310
TEST NAME Konjenital Nefrotik Sendromu (Fin Tipi) TGDA
RELATED GENE NPHS1
SYNONYMOUS NPHS1
OMIM 256300
HEREDITY Autosomal Recessive
CLINICAL AREA Congenital Nephrotic Syndrome (Finnish Type) TGDA is an Autosomal Recessively inherited disease. Mutations in the NPHS1 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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