Genetic examinations list
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Smith-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 …
Peripheral blood, Buccal swab, Isolated DNA from blood, Chorionic villi, Amniotic fluid, Cord blood, Conception product, Cultured cells, Isolated DNA from cordocentesis, DNA isolated from the product of conception, Isolated DNA from amniotic fluid
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 …
Peripheral blood, Buccal swab, Isolated DNA from blood, Chorionic villi, Amniotic fluid, Cord blood, Conception product, Cultured cells, Isolated DNA from cordocentesis, Isolated DNA from chorionic villi, DNA isolated from the product of conception, Isolated DNA from amniotic fluid
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 …
Peripheral blood, Buccal swab, Isolated DNA from blood, Chorionic villi, Amniotic fluid, Cord blood, Conception product, Cultured cells, Isolated DNA from cordocentesis, Isolated DNA from chorionic villi, DNA isolated from the product of conception, Isolated DNA from amniotic fluid
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 …
Peripheral blood, Buccal swab, Isolated DNA from blood, Chorionic villi, Amniotic fluid, Cord blood, Conception product, Cultured cells, Isolated DNA from cordocentesis, Isolated DNA from chorionic villi, DNA isolated from the product of conception, Isolated DNA from amniotic fluid
Turnover Time:
1 weekSTATIM
2 daysDNA isolation and banking
DNA isolation and its storage in the laboratory (banking).
Material:
Peripheral blood, Buccal swab …
Peripheral blood, Buccal swab, Amniotic fluid, Cord blood, Conception product, Cultured cells, Solid tumour, Ejaculate, Isolated DNA from chorionic villi
Turnover Time:
48 hoursDNA disposal after testing
Disposal of isolated DNA after its testing.
Material:
Isolated DNA from blood, DNA from chorionic villi …
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