SOD1 gene testing – familial amyotrophic lateral sclerosis (ALS)

Test covered by the reimbursement:

YES

Gender:

Woman/Man

Material:

Peripheral blood, Buccal swab …

Turnover time:

3 weeks

STATIM:

1 week

Material:

Peripheral blood | 1x 3 ml of whole blood in K3 EDTA tube

Storage before examination: 5 days 2 – 8°C

Buccal swab | 2x swab stick for buccal swab collection

Storage before examination: 5 days 15 – 25°C

Isolated DNA from blood | 10–100 ng/μL of isolated DNA from blood in a PCR tube of at least 15 μL.

Storage before examination: 5 days 15 – 25°C

Cultured cells | 1.5 ml of cultured cells in a microtube (Eppendorf type)

Storage before examination: 3 days 2 – 8°C

Quick test description:

Testing for all coding exons (1, 2, 3, 4, 5) including adjacent SOD1 gene intron sequences by Sanger sequencing.

Test details:

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterised by loss of brain and spinal motor neurons (sparing extraocular and sphincter muscles). It usually manifests between 60 and 70 years of age, but can occur much earlier. Manifestation at a younger age is more commonly observed in familial ALS. The incidence is around 2/100,000 inhabitants per year and the prevalence is 6/100,000 inhabitants. The disease slightly predominates in males in a ratio of 1.2–1.6:1. A mutation in the gene that encodes the SOD1 enzyme (copper/zinc superoxide dismutase 1) was demonstrated in 20% of individuals with familial ALS. We perform direct sequencing of all coding exons (1, 2, 3, 4, 5), including adjacent intron sequences in the SOD1 gene.

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