List of diseases covered by Frontotemporal Dementia NGS panel

Published 16/05/2018

List of diseases covered by
Frontotemporal Dementia NGS panel

Gene Condition
ABCA7 Alzheimer disease 9, susceptibility to
APOE Alzheimer disease-2
APP Alzheimer disease 1, familial;
Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants
CHMP2B Dementia, familial, nonspecific; Amyotrophic lateral sclerosis 17
GRN Frontotemporal lobar degeneration with ubiquitin-positive inclusions;
Ceroid lipofuscinosis, neuronal, 11
CSF1R Leukoencephalopathy, diffuse hereditary, with spheroids
FUS Amyotrophic lateral sclerosis 6,
with or without frontotemporal dementia; Essential tremor, hereditary, 4
ITM2B Dementia, familial British; Dementia, familial Danish;
Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities
MAPT Dementia, frontotemporal, with or without parkinsonism; Pick disease;
Supranuclear palsy, progressive; Supranuclear palsy, progressive atypical
PRNP Cerebral amyloid angiopathy, PRNP-related;
Creutzfeldt-Jakob disease; Huntington disease-like 1; Insomnia, fatal familial;
Prion disease with protracted course
PSEN1 Alzheimer disease, type 3, with spastic paraparesis and apraxia;
Dementia, frontotemporal; Pick disease; Cardiomyopathy, dilated, 1U
PSEN2 Alzheimer disease-4; Cardiomyopathy, dilated, 1V
SIGMAR1 Amyotrophic lateral sclerosis 16, juvenile;
Spinal muscular atrophy, distal, autosomal recessive, 2
SNCA Dementia, Lewy body; Parkinson disease 1; Parkinson disease 4
TARDBP Frontotemporal lobar degeneration, TARDBP-related;
Amyotrophic lateral sclerosis 10, with or without FTD
TBK1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
TREM2 Polycystic lipomembranous osteodysplasia
with sclerosing leukoencephalopathy 2
TUBA4A Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia
UBE3A Angelman syndrome
UBQLN2 Amyotrophic lateral sclerosis 15,
with or without frontotemporal dementia
VCP Amyotrophic lateral sclerosis 14,
with or without frontotemporal dementia; Charcot-Marie-Tooth disease, type 2Y;
Inclusion body myopathy with early-onset Paget disease
and frontotemporal dementia 1

Frontotemporal Dementia NGS panel

Published 21/03/2016

Frontotemporal Dementia
NGS panel

Genes
(full
coding region):		 ABCA7, APOE, APP, CHMP2B, CSF1R, FUS, GRN, ITM2B, MAPT, PRNP, PSEN1, PSEN2, SIGMAR1, SNCA, SORL1, TARDBP, TBK1, TREM2, TUBA4A, UBE3A, UBQLN2, VCP
List of diseases covered by the panel
Non-coding variants: List of non-coding variants covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: CRHR1, GRN, MAPT
Lab method: MLPA
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

1. Confirmation of clinical diagnosis
2. Determination of differential diagnosis
3. Testing of at-risk asymptomatic adults
4. Genetic counseling

Frontotemporal dementia (FTD) is a degenerative condition characterized by progressive neuronal loss in the temporal and frontal lobes of the brain. Clinical presentations may include behavioral changes, language disturbances, aphasia, extrapyramidal signs, rigidity, bradykinesia, supranuclear palsy, saccadic eye movement disorders, and mutism.

FTD usually occurs between ages 40 and 60 years, but may appear earlier or later. Most individuals diagnosed with the disorder have had an affected parent with the clinical symptoms of frontotemporal dementia. FTD is inherited in an autosomal dominant manner.

References:

Cardarelli R et al. Frontotemporal dementia: a review for primary care physicians. Am Fam Physician. 2010 Dec 1;82(11):1372-7.
Harms MM et al. TARDBP-Related Amyotrophic Lateral Sclerosis. GeneReviews® 2009 April 23 (Updated 2015 March 12).
Hsiung G-YR and Feldman HH. GRN-Related Frontotemporal Dementia. GeneReviews® 2007 Sept 7 (Updated 2013 March 14).
Van Swieten JC et al. MAPT-Related Disorders. GeneReviews® 2000 Nov 7 (Updated 2010 Oct 26).