Genetic examinations list

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SABSCAN: Non-Invasive Test for Early Pregnancy Loss

Screening of cell-free foetal DNA (cfDNA) from the blood of a pregnant woman to detect aneuploidy of sex and non-sex chromosomes of the aborted foetus.

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Material:

Peripheral blood

Turnover Time:

2 weeks

STATIM

1 week

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.

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Material:

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

Turnover Time:

6 weeks

STATIM

3 weeks