Genetic examinations list
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Addition of compatibility testing to the partner’s CarrierTest
When to use this test: We have already performed CarrierTest in the patient, the partner either underwent it too or is now indicated for this test, but they have not yet been tested for their mutual compatibility, which is now required.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
6 weeksSTATIM
3 weeksG20210A F2 mutation (Prothrombin)
Testing for thrombophilic G20210A mutation in the F2 gene (prothrombin) by real-time PCR.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
3 weekA1298C polymorphism in the MTHFR gene
Testing for A1298C polymorphism in the MTHFR gene by real-time PCR.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
3 daysAR deafness – detection of 35delG GJB2 mutation
Testing for 35delG mutation in the GJB2 gene responsible for AR hereditary, non-syndromic disorder/hearing loss (deafness).
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
3 daysAlpha-1-antitrypsin deficiency – PI*Z (p.Glu366Lys) and PI*S (p. Glu288Val) alleles in the SERPINA1 gene
SERPINA1 gene testing using Sanger sequencing is performed to detect PI*Z (p.Glu366Lys) and PI*S (p. Glu288Val) alleles.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
3 daysGenetically-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.