Genetic examinations list

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Expert paternity test by court order

Expert paternity test by court order. The material is collected in the presence of a forensic expert and the results are provided with an expert opinion. The results of this test are intended for use in legal proceedings.

Material:

Peripheral blood, Buccal swab

Non-invasive paternity test (upon agreement) from week 11 of the pregnancy

A non-invasive paternity test is performed upon agreement with the laboratory from week 11 of the pregnancy. The test is carried out from the blood of the mother, which contains the free DNA of the foetus, and the blood of the putative father. The test can only be carried out in singleton pregnancies (it is not possible to test the paternity of twins).

Material:

Peripheral blood, Peripheral blood

DNA sperm fragmentation test (Halosperm)

Determination of the percentage of sperm with fragmented DNA using the Halosperm kit.

Material:

Ejaculate

Turnover Time:

1 day

Cystic fibrosis – 50 mutations + Tn variants of IVS8 in the CFTR gene

Testing for the 50 most common CFTR gene mutations and determination of polymorphism in intron 8 (IVS8 Tn/TGn). These 50 mutations represent over 92% of the findings in patients diagnosed with CF in the Czech population using fragmentation analysis.

Material:

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

Turnover Time:

3 weeks

STATIM

3 days

Spinal muscular atrophy – determination of copy number of exon 7 and 8 in the SMN1 gene

Examination of SMN1 and SMN2 genes associated with spinal muscular atrophy (SMA) by MLPA method. This concerns an autosomal recessive disease that is most often associated with homozygous deletion of exon 7 in the SMN1 gene (almost 95% of all patients with SMA).

Material:

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

Turnover Time:

3 weeks

STATIM

3 days

Fragile X syndrome – detection of CGG repeat expansion in the FMR1 gene

The testing is performed to determine the presence and extent of CGG triplet expansion in the IT15 region of the FMR1 gene.

Material:

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

Turnover Time:

3 weeks

STATIM

3 days