Test Name & Code:
• Test Name: Niemann-Pick Genetic Test (NPC1, NPC2, SMPD1 genes)
• Test Code: 3630
• Test Code: 3630
Related Diseases & Genes:
• “Niemann-Pick disease, type C1” (OMIM #: 257220)|| Gene: NPC1 (OMIM #: 607623)
• “Niemann-Pick disease, type D” (OMIM #: 257220)|| Gene: NPC2 (OMIM #: 601015)
• “Niemann-pick disease, type C2” (OMIM #: 607625)|| Gene: SMPD1 (OMIM #: 607608)
• “Niemann-Pick disease, type A” (OMIM #: 257200)
• “Niemann-Pick disease, type B” (OMIM #: 607616)
• “Niemann-Pick disease, type D” (OMIM #: 257220)|| Gene: NPC2 (OMIM #: 601015)
• “Niemann-pick disease, type C2” (OMIM #: 607625)|| Gene: SMPD1 (OMIM #: 607608)
• “Niemann-Pick disease, type A” (OMIM #: 257200)
• “Niemann-Pick disease, type B” (OMIM #: 607616)
Synonyms:
• EPIDIDYMAL SECRETORY PROTEIN; HE1
• SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL
• SPHINGOMYELINASE, ACID
• SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL
• SPHINGOMYELINASE, ACID
Test Details:
• Methodology: DNA Sequencing
• Reported: 3 weeks
• Reported: 3 weeks
Specimen Details:
• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: 5-10 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
• Container: Tube with EDTA
• Specimen Volume/Amount: 5-10 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
Testing Area(s):
• Inborn Errors of Metabolism
