Niemann-Pick Disease Panel (3 Genes)

TEST CODE MGN0170
TEST NAME Niemann-Pick Disease Panel (3 Genes)
RELATED GENE SMPD1, NPC1, NPC2
SYNONYMOUS SMPD1, NPC1, NPC2
OMIM
HEREDITY
CLINICAL AREA Niemann-Pick disease occurs in certain tissues, especially reticuloendothelial from the congenital lipidosis group in which sphingolipids accumulate in cells Autosomal Recessive is an inherited disease. 3 genes associated with the disease are being examined within the scope of the panel.”
METHOD Next Generation Sequencing (NGS)
SAMPLE TYPE Blood with EDTA
QUANTITY 3 mL
TAT 40 DAYS

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