Genetic examinations list

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Karyotyping of the couple, preconception diagnosis

Karyotyping to determine numerical and structural chromosomal aberrations (deviations) in patients planning a family.

Material:

Peripheral blood

Turnover Time:

8 weeks

STATIM

4 weeks

Karyotyping of the patient, preconception diagnosis

Karyotyping to determine numerical and structural chromosomal aberrations (deviations) in patients planning a family.

Material:

Peripheral blood

Turnover Time:

8 weeks

STATIM

4 weeks

Karyotyping in gamete donation candidate

It is used to determine karyotype by classical cytogenetic methods to determine numerical and structural chromosomal aberrations (deviations) of the gamete donor.

Material:

Peripheral blood

Turnover Time:

8 weeks

STATIM

4 weeks

G20210A F2 mutation (Prothrombin)

Testing for thrombophilic G20210A mutation in the F2 gene (prothrombin) by real-time PCR.

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

Turnover Time:

3 weeks

STATIM

3 week

Karyotyping in postnatal diagnosis

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

Material:

Peripheral blood

Turnover Time:

8 weeks

STATIM

4 weeks

Genetically-Caused Lactose Intolerance

The test examines two variants, c.-13910T/C (rs4988235) and c.-22018A/G (rs182549), in the regulatory region of the LCT gene, which codes for the lactase enzyme that is essential for digesting milk sugar (lactose). Adults with the CC/GG genotype often experience digestive problems with milk sugar—this is known as lactose intolerance.

Material:

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

Turnover Time:

4 weeks