Genetic examinations list

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Hereditary spastic paraparesis (SPG4 – SPAST gene, SPG31 – REEP1 gene) – familial AD

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

more informations

Material:

Peripheral blood, Buccal swab …
Peripheral blood, Buccal swab, Isolated DNA from blood, Cultured cells

Turnover Time:

6 weeks

STATIM

3 weeks

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

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

more informations

Material:

Peripheral blood, Buccal swab …
Peripheral blood, Buccal swab, Isolated DNA from blood, Cultured cells

Turnover Time:

6 weeks

STATIM

3 weeks

Testing for the most common NBN (NBS1) gene mutation – Nijmegen breakage syndrome, primary microcephaly

Testing for the most common c.511A>G (p.Ile171Val), c.643C>T (p.Arg215Trp) and c.657_661delACAAA (p.Lys219Asnfs*16) mutations in the NBN gene (NBS1) responsible for Nijmegen breakage syndrome by Sanger sequencing.

more informations

Material:

Peripheral blood, Buccal swab …
Peripheral blood, Buccal swab, Isolated DNA from blood, Isolated DNA from chorionic villi, Isolated DNA from amniotic fluid, Isolated DNA from cordocentesis, DNA isolated from the product of conception, Cultured cells

Turnover Time:

3 weeks

STATIM

3 days