Alzheimer Disease/Frontotemporal Dementia


Test Details
TEST CODE NGS356
TEST METHODOLOGY NGS
TAT (TURNAROUND TIME) 2 - 4 weeks
GENES 38
CPT CODE 81404, 81405, 81406 x2, 81479
PRICE $1995
RECOMMENDED MNG KITS
  • SINGLE Blood Genetic Testing
  • Buccal Swab Genetic Testing

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Clinical Information
Clinical Significance

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.

Relevant Diseases
  • Dementia/Movement Disorders: Alzheimer Disease/Frontotemporal dementia

Specimen Information
Acceptable Sample Types
  • Muscle
  • Cultured Fibroblasts
  • Whole Blood - EDTA
  • Extracted DNA - Leukocytes
  • Buccal Cells
Sample Preparation: (1) Blood specimens: Draw blood in an EDTA tube. Preferred volume: 4 milliliters (adults and pediatrics), Minimum volume: 2 milliliters; (2) DNA extracted from leukocytes, muscle, or fibroblasts: Preferred quantity: 4 micrograms, Minimum quantity: 3 micrograms (Genomic DNA should be eluted in sterile Dnase/Rnase free water or TE. The A260:A280 ratio should be 1.8-2.0.); (3) 2 T-25 flasks of fibroblasts; (4) 50-75 milligrams muscle snap frozen in liquid nitrogen and maintained at -80°Celsius or below. (5) Skin biopsy (Fibroblasts will be cultured from skin specimen for genetic testing): Skin biopsy may be taken from the inner forearm with a sterile skin punch (2-5 millimeters) or at incision site of muscle biopsy. Site is sterilized with alcohol swabs only (other reagents will inhibit cell isolation/growth). Biopsy site may be anaesthetized with 2% lidocaine with epinephrine. Depth of punch is 2mm. Transfer skin biopsy into 15 milliliter conical tube filled with sterile culture media. (6) Buccal cells.
Shipping Condition: MNG SmartKits are available for free shipping of specimens. Please see our website for details. If you are not using a MNG SmartKit: (1) Blood specimens should be shipped in a secure container at room temperature. (2) Extracted DNA should be shipped priority overnight at ambient temperature. (3) 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 (See TC05). (4) Muscle samples should be shipped frozen in an insulated container with 5-7 lbs dry ice. (5) Buccal cells should be shipped in a secure container at room temperature. (6) Skin Biopsy: Conical containing the skin specimen should be shipped in a secure container with cold pack (DO NOT FREEZE). All samples should be shipped overnight at the proper temperature for receipt by our lab Monday thru Saturday (No Sunday or holiday deliveries accepted).

Genes Assessed
A2M
ACE
APOE
APP
BIN1
C9orf72
CD2AP
CHCHD10
CHMP2B
CSF1R
CST3
DNMT1
FTL
FUS
GBA
GCDH
GRN
HFE
HNRNPA2B1
HSD17B10
ITM2B
MAPT
MLYCD
MPO
NOS3
PLAU
PRNP
PSEN1
PSEN2
SNCA
SNCB
SPG21
SQSTM1
TARDBP
TBP
TREM2
UBQLN2
VCP

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