Comprehensive Dementia + C9orf72 Repeat Expansion Analysis


Test Details
TEST CODE NGS407
TEST METHODOLOGY NGS; Repeat Primed-PCR
TAT (TURNAROUND TIME) 2 - 4 weeks
GENES 92
CPT CODE 81479 x2, 81404, 81405 x2, 81406 x3
PRICE $2195
RECOMMENDED MNG KITS
  • SINGLE Blood Genetic Testing
  • Buccal Swab Genetic Testing

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Clinical Information
Clinical Significance

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.

Relevant Diseases
  • Comprehensive 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
ABCD1
ACE
ACSF3
ADH1C
AMN
APOE
APP
APTX
ATP13A2
ATP7B
ATXN2
BIN1
C19orf12
C9orf72
CCDC88A
CD2AP
CHMP2B
CLN3
CLN6
CP
CSF1R
CST3
CTSF
CUBN
DCAF17
DNAJC5
DNMT1
ERCC8
FTL
FUS
GBA
GBE1
GCDH
GIGYF2
GM2A
GRN
HEXA
HFE
HNRNPA2B1
HSD17B10
HTRA1
HTT
ITM2B
MAPT
MLYCD
MMACHC
MPO
NDP
NOS3
NOTCH3
NPC1
NPC2
OMG
PANK2
PDE11A
PDGFRB
PLAU
POLG
PPT1
PRKCG
PRNP
PSEN1
PSEN2
PTEN
SERPINI1
SLC1A4
SNCA
SNCB
SNORD118
SNRPB
SON
SPAST
SPG21
SPG7
SQSTM1
TARDBP
TBP
TIMM8A
TREM2
TTR
TYROBP
UBQLN2
UCHL1
VAC14
VAMP1
VCP
VPS33A
VPS35
WDR45
ZC4H2
ZNF148

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