Genetic examinations list

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Haemochromatosis – 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 weeks

STATIM

3 days

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 …
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 week

STATIM

2 days