Genetic examinations list
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QF-PCR aneuploidy testing of chromosomes 13, 18, 21, X and Y
Testing for aneuploidy of chromosomes 13, 18, 21, X and Y by QF-PCR.
Material:
Peripheral blood, Buccal swab …Turnover Time:
1 weekSTATIM
2 daysHereditary Fructose Intolerance
The test uses a certified (CE-IVD) reverse hybridization strip method to examine the most common mutations—A149P, A174D, N334K, and the del4E4 deletion—in the ALDOB gene, which are responsible for fructose intolerance.
Material:
Peripheral blood, Isolated DNA from blood …Turnover Time:
4 weeksGenetically-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.
Material:
Endometrial biopsyTurnover Time:
4 weeksSTATIM
2 weeksDNA isolation and banking
DNA isolation and its storage in the laboratory (banking).
Material:
Peripheral blood, Buccal swab …Turnover Time:
48 hoursDNA disposal after testing
Disposal of isolated DNA after its testing.