EXOSC3 gene testing – pontocerebellar hypoplasia type 1 (PCH1)
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
Quick test description:
Sequencing of 1 coding exon in the EXOSC3 gene for PCH1 (pontocerebellar hypoplasia type 1).
Test details:
Pontocerebellar hypoplasia (PCH) is a group of rare hereditary diseases. Eight subtypes have been described so far, with pontocerebellar hypoplasia type 1 and type 2 being the most common. Pontocerebellar hypoplasia type 1 (PCH1) manifests prenatally or in early neonatal age with eating and breathing difficulties. Generalised muscle hypotonia and progressive muscle atrophy later lead to slower motor and speech development, and eye disorders. Microcephaly affects about half of patients and, unlike other types of PCH, is not as noticeable. In our laboratory, we perform Sanger sequencing of one coding exon in the EXOSC3 gene for PCH1.