Test Name & Code:
• Test Name: Alzheimer’s Disease, PSEN1 Genetic Analysis, Alzheimer Type 3
• Test Code: 4613
• Test Code: 4613
Related Diseases & Genes:
• “Acne inversa, familial, 3” (OMIM #: 613737) || Gene: PSEN1 (OMIM #: 104311)
• “Alzheimer’s disease, type 3” (OMIM #: 607822)
• “Alzheimer’s disease, type 3, with spastic paraparesis and apraxia” (OMIM #: 607822)
• “Dementia, frontotemporal” (OMIM #: 600274)
• “Alzheimer’s disease, type 3” (OMIM #: 607822)
• “Alzheimer’s disease, type 3, with spastic paraparesis and apraxia” (OMIM #: 607822)
• “Dementia, frontotemporal” (OMIM #: 600274)
Synonyms:
• PRESENILIN 1
• PS1
• S182
• PS1
• S182
Test Details:
• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 2-3 weeks
• Performed: Everyday
• Reported: 2-3 weeks
Specimen Details:
• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 3 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
• Container: Tube with EDTA
• Specimen Volume/Amount: > 3 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
Testing Area(s):
• Neurogenetics