Genetic examinations list

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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.

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Material:

Peripheral blood, Isolated DNA from blood

Turnover Time:

6 weeks

STATIM

3 weeks

Additional evaluation of selected gene from CarrierTest panel for matching

Additional testing for hidden carriage of key mutations in selected recessive genes that may affect the health status of carriers and their offspring. The matching uses the evaluation of data from the already performed CarrierTest NGS testing intended for donors. When to use this test: We use it to match the donor with the partner who carries the mutation in the selected gene to determine the suitability of using this donor and eliminate any reproductive risk.

more informations

Material:

Isolated DNA from blood

Turnover Time:

2 days

STATIM

1 day

Alpha-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.

more informations

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