Genetic examinations list

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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

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

Predictive mutation testing – SPAST gene (SPG4) and/or REEP1 gene (SPG31)

Testing for familial AD variants of SPAST gene (SPG4) and REEP1 gene (SPG31) using the NGS method.

Material:

Peripheral blood, Buccal swab …
Peripheral blood, Buccal swab, Isolated DNA from blood, Cultured cells

Turnover Time:

6 weeks

STATIM

3 weeks