Genetic examinations list

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Detection of deletions in genes associated with hearing impairment

Testing for STRC, OTOA, CATSPER2 gene duplication/deletion by Multiplex Ligation-dependent Probe Amplification (MLPA), responsible for hearing impairment: DFNB16, DFNB22.

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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, DNA isolated from cultured cells

Turnover Time:

3 weeks

STATIM

3 days

Determination of TPMT mutation status, allele *1, *2, *3A, *3B, *3C (mutations c.238G>C, c.460G>A and c.719A>G)

TPMT gene testing is performed by PCR and reverse hybridization strip assay to detect *1, *2, *3A, *3B, *3C alleles (c.238G>C, c.460G>A and c.719A>G mutations), which are responsible for the reduced activity of this enzyme catalyzing components of thiopurine drugs used in cancer therapy.

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Material:

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

Turnover Time:

3 weeks

STATIM

3 days

Determination of NUDT15 gene mutation status, allele *1, *2, *3, *4, *5 (mutation c. 415C>T, c. 416 G>A and c.52G>A)

NUDT15 gene testing by real-time PCR is performed to detect NUDT15*1, NUDT15*2, NUDT15*3, NUDT15*4, and NUDT15*5 alleles (c. 415C>T, c. 416G>A, and c.52G>A), which are involved in the metabolism of thiopurine drugs.

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Material:

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

Turnover Time:

3 weeks

STATIM

1 week

KIR (Killer-cell immunoglobulin-like receptor) haplotype evaluation

The KIR haplotype (A/B) determination method allows for the identification of the mother's genetic makeup in the region of KIR receptors. These receptors play a crucial role in the communication between the mother's immune system and the embryo during pregnancy, where they recognize HLA-C molecules on the embryo's surface. Analysis of the KIR haplotype can help reveal specific maternal genotypes that, in combination with the fetal HLA-C, may be associated with a higher risk of pregnancy complications.

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Material:

Peripheral blood, Isolated DNA from blood

Turnover Time:

3 weeks

STATIM

2 weeks

DNA sperm fragmentation test (Halosperm)

Determination of the percentage of sperm with fragmented DNA using the Halosperm kit.

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Material:

Ejaculate

Turnover Time:

1 day

DNA isolation and banking

DNA isolation and its storage in the laboratory (banking).

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Material:

Peripheral blood, Buccal swab …
Peripheral blood, Buccal swab, Amniotic fluid, Cord blood, Conception product, Cultured cells, Solid tumour, Ejaculate, Isolated DNA from chorionic villi

Turnover Time:

48 hours