Genetic examinations list
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G20210A 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 weekFamilial hypercholesterolaemia – FH test
Testing for familial hypercholesterolaemia (FH) using SNP array.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
4 weeksSTATIM
3 weeksFragile 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 …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.
Material:
Peripheral blood, Isolated DNA from blood …Turnover Time:
4 weeksGERT: GENNET Endometrium Receptivity test
The Gennet Endometrium Receptivity Test (GERT) is a diagnostic test designed to determine the receptivity of the inner lining of the uterus (endometrium). The test requires a biopsy sample of endometrial tissue and uses RNAseq analysis.