Predictive mutation testing – SPAST gene (SPG4) and/or REEP1 gene (SPG31)

Test covered by the reimbursement:

YES

Test without reimbursement:

YES

Gender:

Woman/Man

Material:

Peripheral blood, Buccal swab …

Turnover time:

6 weeks

STATIM:

3 weeks

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

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 familial AD variants of SPAST gene (SPG4) and REEP1 gene (SPG31) using the NGS method.

Test details:

Hereditary spastic paraparesis is a heterogeneous group of diseases that can be mediated by disorders in many genes, only a fraction of which are known. The testing for all 17 coding exons of the SPAST (SPG4) gene (NM_014946.3; ENST00000615843.4) and 7 coding exons of the REEP1 (SPG31) gene (NM_022912; ENST00000165698.9) is performed by Massively Parallel Sequencing (NGS) on the Illumina platform (NextSeq) using the CarrierTest NGS panel. The obtained data are analysed according to our own bioinformatic evaluation, which includes alignment to the GRCh38 genome reference sequence, variant calling, annotation with the current version of Ensembl and filtering of target variants according to the current version of the panel. Each of the above steps is complemented by quality control.

back to list