Alzheimer Disease/Frontotemporal Dementia (NGS Panel and Copy Number Analysis)

Whole blood, oral swab, extracted DNA (from blood or oral swab only)

Whole blood: 4 ml
Oral swab: 3 swabs
Extracted DNA: Contact MNG Genetic Services 844-664-8378 (844-MNGTEST) 

Whole blood: 2 ml
Oral swab: 1 swab
Extracted DNA: Contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

Whole blood: Lavender-top (EDTA) 
Oral swab: OCD-100 DNA Genotek
Extracted DNA: Contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

Whole blood: standard phlebotomy. 
Oral swab: follow kit instructions
Extracted DNA: Contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze. 

• Room temperature: Whole blood: 14 days; Swab: 60 days
• Refrigerated: Whole blood: 30 days; Swab: 60 days
• Frozen: Do not freeze

Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container

Alzheimer’s Disease (AD) is characterized by dementia that typically begins with subtle failure of memory and slowly becomes more severe and eventually incapacitating. The typical clinical duration of the disease is eight to ten years, with a range from one to 25 years. Approximately 25% of all AD is familial (i.e., ?2 persons in a family have AD), of which approximately 95% is late onset (age >60-65 years) and 5% is early onset (age <65 years). AD is common and the overall lifetime risk for any individual for developing dementia is approximately 10%-12%. . Most cases of Alzheimer disease are the late-onset form (LOAD), which develops after 60 years of age. The cause of LOAD is not yet completely understood, but likely include a combination of genetic, environmental, and lifestyle factors. Early-onset familial AD (EOFAD) is generally transmitted in an autosomal dominant fashion. Age of onset Is before age 60-65 years, and often before age 55 Frontotemporal dementia is a progressive neurodegenerative disease accounting for 5%-10% of all individuals with dementia and 10%-20% of individuals with dementia with onset before age 65 years. Frontotemporal dementia (FTD) refers to a clinical manifestation of the pathologic finding of frontotemporal lobar degeneration (FTLD). FTD, the most common subtype of FTLD, is characterized by behavioral changes in social and personal conduct with loss of volition, executive dysfunction, loss of abstract thought, and decreased speech output. A second clinical subtype of FTLD is 'semantic dementia', characterized by specific loss of comprehension of language and impaired facial and object recognition. A third clinical subtype of FTLD is 'primary progressive aphasia' (PPA), characterized by a reduction in speech production, speech errors, and word retrieval difficulties resulting in mutism and an inability to communicate. All subtypes have relative preservation of memory, in the early stages. FTLD is often associated with Parkinsonism or Motor Neuron Disease (MND) resembling amyotrophic lateral sclerosis.

This assay will not consistently detect mosaicism or rule out the presence of large chromosomal aberrations, including rearrangements and inversions that do not change copy number of genomic regions. This NGS assay does not detect repeat expansions. False positive or false negative results may occur for reasons that include insufficient information available about rare genetic variants, sex chromosome abnormalities, pseudogene interference, homologous regions, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism/heteroplasmy, mislabeled samples, or erroneous representation of family relationships. For panels with mitochondrial DNA assessment, low levels of heteroplasmy may not be reliably detected. Interpretation of the clinical significance of gene variations is limited by information about the variant that is available at the time of reporting, and by the quality and quantity of clinical information provided with the sample. The interpretation of the clinical significance of variants may change.

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions, and copy number variants (CNVs). 

SINGLE Blood Genetic Testing, Buccal Swab Genetic Testing