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Amyotrophic lateral sclerosis – frontotemporal dementia panel [15 genes]
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with a prevalence of 5.4/100,000 (Chiò et al., 2013). Even though most cases are of sporadic presentation, previous family history exists in 10% of patients. Pathogenic variants in the C9orf72, SOD1, TARDBP, and FUS genes explain almost two thirds of the familial forms (25%, 20%, 5%, and 5% respectively). In the C9orf72 gene, a single genetic alteration associated with amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia has been detected, consisting of a (GGGGCC)n repeat expansion not detectable by next generation sequencing.
Primary lateral sclerosis (PLS) is characterized by isolated involvement of upper motor neurons, which distinguishes it from amyotrophic lateral sclerosis, where lower motor neurons are also compromised. The diagnosis of PLS is made by excluding disease causes such as spastic paraplegia, multiple sclerosis, metabolic disease, or myelopathy
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1. Download & fill out
Please cover as many fields as possible in both documents
2. Sample collection
Three sample types: saliva, peripheral blood or genomic DNA
3. Pack the sample
Please pack the sample in a way to prevent leakage
4. Send the sample & the request
Please schedule the delivery for Mon–Thur: 8am – 5pm
5. Result: the report
Via: Client Site HIC / Client Site Imegen / Certified email
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Amyotrophic lateral sclerosis - frontotemporal dementia panel
Turnaround time (TAT): 6 weeks
Ref. S-202008565
Amyotrophic lateral sclerosis – frontotemporal dementia panel: View panel
- CCNF
- CHCHD10
- CHMP2B
- DCTN1
- FUS
- HNRNPA1
- HNRNPA2B1
- MATR3
- OPTN
- SQSTM1
- TARDBP
- TBK1
- TUBA4A
- UBQLN2
- VCP
Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.
References
- Chiò A, Logroscino G, Traynor BJ, Collins J, Simeone JC, Goldstein LA, White LA. Global epidemiology of amyotrophic lateral sclerosis: a systematic review of the published literature. Neuroepidemiology. 2013;41(2):118-30.