Genetic examinations list

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Karyotyping in postnatal diagnosis

Karyotyping to determine numerical and structural chromosomal aberrations (deviations) in postnatal diagnosis.

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Material:

Peripheral blood

Turnover Time:

8 weeks

STATIM

4 weeks

Testing for acquired chromosomal aberrations

Karyotyping to determine the level of chromosome damage in peripheral blood lymphocytes.

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Material:

Peripheral blood

Turnover Time:

2-8 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.

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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

Testing for the most common CHRNE gene mutation (exons 11 and 12, 1267delG mutation) – congenital myasthenic syndrome (CMS)

Testing for the most common CHRNE gene mutations (exons 11 and 12, 1267delG mutation) especially in the Roma ethnic group, associated with congenital myasthenic syndrome (CMS), by Sanger sequencing.

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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

1 week

KIR (Killer-cell immunoglobulin-like receptor) haplotype evaluation

The KIR haplotype (A/B) determination method allows for the identification of the mother's genetic makeup in the region of KIR receptors. These receptors play a crucial role in the communication between the mother's immune system and the embryo during pregnancy, where they recognize HLA-C molecules on the embryo's surface. Analysis of the KIR haplotype can help reveal specific maternal genotypes that, in combination with the fetal HLA-C, may be associated with a higher risk of pregnancy complications.

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Material:

Peripheral blood, Isolated DNA from blood

Turnover Time:

3 weeks

STATIM

2 weeks

Transfer of DNA aliquots after isolation for genetic testing outside GENNET

Transfer of DNA aliquots after isolation for genetic testing outside GNTlabs.

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Material:

Isolated DNA from blood, DNA from chorionic villi …
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

Turnover Time:

1 week