Genetic examinations list

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HLA-C (C1/C2) Genotyping

HLA-C typing at the allelic resolution level is used for the detailed determination of HLA-C gene variants. This gene plays a crucial role in the communication between the mother's immune system and the developing embryo during pregnancy. HLA-C analysis helps identify specific combinations of maternal and fetal genes that may be associated with a higher risk of complications such as recurrent miscarriages, preeclampsia, intrauterine growth restriction (IUGR), or preterm birth. We recommend combining it with the KIR haplotype determination method.

Material:

Peripheral blood, Isolated DNA from blood

Turnover Time:

3 weeks

STATIM

2 weeks

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

Pharmacogenetics – PGX test

Testing for congenital predispositions affecting drug metabolism by SNP array.

Material:

Peripheral blood, Isolated DNA from blood

Turnover Time:

4 weeks

STATIM

3 weeks

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

Hereditary Fructose Intolerance

The test uses a certified (CE-IVD) reverse hybridization strip method to examine the most common mutations—A149P, A174D, N334K, and the del4E4 deletion—in the ALDOB gene, which are responsible for fructose intolerance.

Material:

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

Turnover Time:

4 weeks