Testing for the most common CHRNE gene mutation (exons 11 and 12, 1267delG mutation) – congenital myasthenic syndrome (CMS)

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 after examination: week after the report is issued 2 – 8°C
Buccal swab | 2x swab stick for buccal swab collection
Storage after examination: week after the report is issued 2 – 8°C
Isolated DNA from blood | 10–100 ng/μL of isolated DNA from blood in a PCR tube of at least 15 μL.
Storage after examination: stored in a DNA archive without restriction 15°C
Isolated DNA from chorionic villi | 30–100 ng/μL of isolated DNA from chorionic villi in a microtube (Eppendorf type)
Storage after examination: stored in a DNA archive without restriction 15°C
Isolated DNA from amniotic fluid | 30–100 ng/μL of isolated DNA from amniocentesis in a microtube (Eppendorf type)
Storage after examination: stored in a DNA archive without restriction 15°C
Isolated DNA from cordocentesis | 30–100 ng/μL of isolated DNA from cordocentesis in a microtube (Eppendorf type)
Storage after examination: stored in a DNA archive without restriction 15°C
DNA isolated from the product of conception | 50–100 ng/μL in microtube (Eppendorf type)
Storage after examination: stored in a DNA archive without restriction 15°C
Cultured cells | 1.5 ml of cultured cells in a microtube (Eppendorf type)
Storage after examination: 180 days 2 – 8°C

Quick test description:

Testing for the most common CHRNE gene mutations (exons 11 and 12, 1267delG mutation) especially in the Roma ethnic group, associated with congenital myasthenic syndrome (CMS), by Sanger sequencing.

Test details:

Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders of neuromuscular transmission due to structural involvement of the neuromuscular junction. It is a group of rare childhood diseases. The prevalence in the population is 1–2 children per million healthy children. Several genes are currently known to encode different proteins expressed on the neuromuscular junction. Postsynaptic forms of CMS (76%) with impaired acetylcholine receptor (AChR) function (reduction of its number) are the most common in our population. From the aetiological point of view, these are mutations in genes that encode individual AChR subunits; the most common mutation in the European Roma ethnic group is ε1267delG in the AChR ε gene (CHRNE gene) in exon 12. We detect CHRNE gene mutation (exons 11 and 12, 1267delG mutation) by Sanger sequencing.

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