Genetic examinations list
Filter
Laboratory focus
Diagnostic group
Methods
Clinical expertise code
Tests covered by the reimbursement
Tests without reimbursement
Sex
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 …Turnover Time:
3 weeksSTATIM
3 daysSmith-Lemli-Opitz syndrome – detection of the 3 most common mutations in the DHCR7 gene (p.Trp151Ter, p.Val326Leu and c.964-1G>C)
Screening of the 3 most common DHCR7 gene mutations: c.452G>A (p.Trp151Ter), c.976G>T (p.Val326Leu), c.964-1G>C (IVS8-1G>C) using Sanger sequencing, which represent about 81% of all mutations in patients with SLOS (Smith-Lemli-Opitz syndrome, OMIM 270400).
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
1 weekHaemochromatosis – H63D, S65C, C282Y mutation in the HFE gene
HFE gene testing by real-time PCR is performed to detect the most common p.C282Y, p.H63D and p.S65C mutations associated with hereditary haemochromatosis.
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 daysQF-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 daysGERT: 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.