Genetic examinations list

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Predictive testing of known familial gene mutation from CarrierTest

Testing for carriage of familial pathogenic mutations detected during testing in the CarrierTest panel NGS test.

Material:

Peripheral blood, Buccal swab …
Peripheral blood, Buccal swab, 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, Cultured cells

Turnover Time:

3 weeks

STATIM

1 week

PGT-M direct embryo sequencing

Testing for the presence of a known mutation in an embryo originating from one parent using (Sanger) sequencing of a specific region. Can only be done in conjunction with the PGT-M karyomapping method.

Material:

Trophectoderm, Amplified DNA from the trophectoderm

Turnover Time:

4 weeks

STATIM

2 weeks

Predictive testing of familial mutation

Predictive testing of known familial mutation using Sanger sequencing.

Material:

Peripheral blood, Buccal swab …
Peripheral blood, Buccal swab, 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, Cultured cells

Turnover Time:

3 weeks

STATIM

3 days

Paternity/relatedness test

Determination of paternity or relatedness by analysis of 16 STR markers.

Material:

Peripheral blood, Buccal swab …
Peripheral blood, Buccal swab, 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, Cultured cells

Turnover Time:

3 weeks

Non-invasive paternity test (upon agreement) from week 11 of the pregnancy

A non-invasive paternity test is performed upon agreement with the laboratory from week 11 of the pregnancy. The test is carried out from the blood of the mother, which contains the free DNA of the foetus, and the blood of the putative father. The test can only be carried out in singleton pregnancies (it is not possible to test the paternity of twins).

Material:

Peripheral blood, Peripheral blood