PABPN1 gene testing (exon 1) – oculopharyngeal muscular dystrophy (OPMD) – familial AD

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:

PCR amplification and sequencing of PABPN1 gene (associated with oculopharyngeal muscular dystrophy) to detect GCG triplet expansion.

Test details:

Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant inherited muscular dystrophy due to amplification of the GCG triplet in the polyadenylate binding protein nuclear 1 (PABPN1) gene on the 14q11.2–q13 chromosome. The disease usually manifests between 40 and 60 years of age, most often by facial muscle weakness (hypomimia), ptosis, dysphagia and muscle weakness, especially pelvifemoral muscles, sometimes sphincters may also be affected. OPMD is characterised by variable incidence depending on geographical factors (the highest prevalence is among Bukharan Jews in Israel 1:600 or in the Canadian province of Quebec 1:1,000; low prevalence is in France 1:200,000). The mutation – an increased number of GCG triplets – shows high stability in the PABPN1 gene and no anticipation phenomenon has been observed. The prevalence of OPMD in the Czech Republic can only be estimated (35/10 million, i.e. 1:285,700), as there are many more carriers of the mutation, but in the families of our probands, the majority of younger relatives with a 50% risk of manifesting OPMD rejected presymptomatic genetic testing. In our laboratories, we use Sanger sequencing to determine the expansion of GCG triplets in PABN1 (OPMD). 

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