Comprehensive Dementia (NGS Panel and Copy Number Analysis + C9orf72 & HTT Repeat Expansion Analysis)

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.

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

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

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

Dementia is a neurodegenerative disorder. Symptoms may include memory loss and difficulties with thinking, problem-solving or language, and often changes in mood, perception or behavior. One of the first symptoms is often short-term memory problems. The age of onset is mostly after 60 years of age; late onset dementia. Early onset dementia occurs before the age of 60 and problems with movement, walking, coordination, and balance are more prominent. Vascular dementia occurs when there are problems in the blood supply to the brain. It is closely linked to diabetes and cardiovascular diseases such as stroke and heart disease. It is the second most common type of dementia in younger people; around 15% of dementia in this age group is vascular dementia. Synucleinopathies include the overlapping spectrum of Parkinson’s disease (PD), PD with dementia, and dementia with Lewy bodies (also known as Lewy body dementia). A key hallmark in these related disorders is the build-up of protein deposits (?-synuclein) called Lewy bodies in the brain. Frontotemporal dementia (FTD) is caused by damage to the lobes at the front and/or sides of the brain. Around 10-15% of younger individuals with dementia may have this form. FTD is most often diagnosed between the ages of 45 and 65. This contrasts with AD, vascular dementia, and dementia with Lewy bodies, all of which become more apparent with age.

Maximum reportable sizing: C9orf72 - 65 repeats
Maximum reportable sizing: HTT - 150 repeats

Next-Generation Sequencing

SINGLE Blood Genetic Testing, Buccal Swab Genetic Testing