Scroll back to top

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

CPT: 81404, 81405 (x2), 81406 (x6), 81479

Genes Assessed

      Specimen Requirements


      Blood | Extracted DNA | Cultured Fibroblasts | Muscle | Buccal Cells


      Blood: Draw blood in a lavender top EDTA tube, Sample Stability: 5-7 days, Preferred volume: 4 ml, Minimum volume: 2 ml, DO NOT FREEZE. Extracted DNA: From leukocytes, muscle, or fibroblasts: Preferred quantity: 1 microgram, Minimum quantity: 800 nanograms. Genomic DNA should be eluted in sterile Dnase/Rnase free water or TE. The A260:A280 ratio should be 1.8-2.0. Cultured Fibroblasts: Two T-25 flasks of fibroblasts, preferably ~90% confluent. TAT will be extended by 7-14 days if cells are not confluent upon arrival. Muscle: 50-75 milligrams muscle snap frozen in liquid nitrogen and maintained at -80°Celsius or below. Buccal Cells: One buccal swab should be used for collection. Do not discard solution in collection tube. Follow collection instructions supplied. Stability at ambient temperature is 60 days.


      Blood: Lavender-Top (EDTA) Tube, Buccal Swab from MNG Kit, Tissue or Extracted DNA: Sterile screw capped vial, Cultured cells: T25 flask


      Blood: Specimens should be shipped overnight in a secure container at room temperature. Extracted DNA: Should be shipped overnight at room temperature. If previously frozen, DNA can be shipped in an insulated container with wet or dry ice. Cultured Fibroblasts: T-25 flasks containing fibroblasts should be shipped in an insulated container at room temperature. Flasks should be completely filled with media and cells should be ~90% confluent. Fibroblast samples must be certified free from Mycoplasma. MNG is able to perform this service for a small charge (TC05). For NGS panels, TAT will be extended by 7-14 days if cells are not confluent upon arrival. Muscle: Samples should be shipped frozen in an insulated container with 5-7 lbs. dry ice, overnight. Buccal cells: Should be shipped overnight in a secure container at room temperature.

      Storage Instructions

      Blood - ship ASAP, but stable up to 5 days post-collection at room temperature. DO NOT FREEZE; Swab - 60 day post-collection room temperature stability; DNA - ship at room temperature after extraction; Fibroblasts - ship flask in insulated container at room temp or refigerated; Muscle - ship in insulated container with 5-7 lbs of dry ice

      Stability Requirements

      Room Temperature: Blood - 5 days, Swab - 60 days, DNA - 30 days, Muscle - 0 days, Fibroblasts - 2-3 days; Refrigerated: Blood - 5 days, Swab - 60 days, DNA - 30 days, Muscle - 0 days, Fibroblasts - 2-3 days; Frozen: Blood - DO NOT FREEZE, Swab - 60 days, DNA - Indefinitely, Muscle - Indefinitely, Fibroblasts - Indefinitely; Freeze/Thaw: None

      Causes for Rejection

      Extracted DNA A260:A280 ratio of outside of 1.8-2.0 range; Frozen blood EDTA tube; Thawed and/or fatty muscle sample; Insufficient buccal cell collection

      Test Details


      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.


      Next-Generation Sequencing

      Recommended MNG Kits

      SINGLE Blood Genetic Testing, Buccal Swab Genetic Testing