Genetic examinations list

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CarrierTest – preconception panel with partner compatibility

CarrierTest is a panel NGS test of selected regions with an impact on parental fertility and offspring health, using data from exome libraries. It determines the hidden carriage of key mutations in recessive genes that cause more than 60 genetic disorders and conditions.

When to order this test: Preconception test for couples – indication of CarrierTest for both partners, including mutual compatibility (method for compatibility is sent automatically with this test). If one of the partners already underwent CarrierTest at our workplace and now has a new partner, we will order this test for the new partner (if he/she did not undergo CarrierTest at our workplace) and order the “Addition of compatibility testing to the partner’s CarrierTest” method for the patient. If both partners underwent CarrierTest at our workplace, we choose only the “Addition of compatibility testing to the partner’s CarrierTest” for both partners.

Material:

Peripheral blood, Isolated DNA from blood

Turnover Time:

6 weeks

STATIM

3 weeks

Predictive testing – a partner carries the gene mutation from CarrierTest (including compatibility of the couple)

CarrierTest is a panel NGS test of selected regions using data from exome libraries.

When to use this test: The partner is already a known carrier of the gene mutation detected in our laboratory by CarrierTest. Therefore, the patient is indicated to be tested for all mutations of the gene, which will also be performed by CarrierTest and the compatibility of both partners determined.

Material:

Peripheral blood, Isolated DNA from blood

Turnover Time:

6 weeks

STATIM

3 weeks

CarrierTest – preconception panel

CarrierTest is a panel NGS test of selected regions using data from exome libraries. It determines the hidden carriage of key mutations in recessive genes that cause more than 60 genetic disorders and conditions with an impact on parental fertility and offspring health.
Preconception genetic testing of one person without a partner (single).

Material:

Peripheral blood, Isolated DNA from blood

Turnover Time:

6 weeks

STATIM

3 weeks

Predictive testing – a partner carries the gene mutation from CarrierTest but not tested in GNTlabs

CarrierTest is a panel NGS test of selected regions using data from exome libraries.

When to use this test: The partner is already a known carrier of a mutation in the gene that is included in the CarrierTest, so the patient is indicated to be tested for all mutations in the gene, which will also be performed by CarrierTest, but the partner has not been tested in our laboratory and compatibility will not be tested.

Material:

Peripheral blood, Isolated DNA from blood

Turnover Time:

6 weeks

STATIM

3 weeks

Addition of compatibility testing to the partner’s CarrierTest

When to use this test: We have already performed CarrierTest in the patient, the partner either underwent it too or is now indicated for this test, but they have not yet been tested for their mutual compatibility, which is now required.

Material:

Peripheral blood, Isolated DNA from blood

Turnover Time:

6 weeks

STATIM

3 weeks

CarrierTest – preconception panel of donor candidate (carriage of recessive mutations)

Testing for the hidden carriage of key mutations in recessive genes that may affect the health status of carriers and their offspring. CarrierTest intended for donors is a panel NGS test of selected regions using data from exome libraries.

Material:

Peripheral blood, Isolated DNA from blood

Turnover Time:

4 weeks

STATIM

2 weeks