Genetic examinations list

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PGT preparation, female patient

DNA testing of the female patient by karyomapping (SNP array) to determine the parental origin of chromosome segments in the examined embryos and to possibly detect various types of genetic disorders, including monogenic ones.

Material:

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

Turnover Time:

4 weeks

STATIM

2 weeks

PGT preparation, partner

DNA testing of the patient’s partner by karyomapping (SNP array) to determine the parental origin of chromosome segments in the examined embryos and to possibly detect various types of genetic disorders, including monogenic ones.

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

Turnover Time:

4 weeks

STATIM

2 weeks

PGT preparation, relatives

DNA testing of the patient’s relatives by karyomapping (SNP array) to determine the parental origin of chromosome segments in the examined embryos and to possibly detect various types of genetic disorders, including monogenic ones.

Material:

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

Turnover Time:

4 weeks

STATIM

2 weeks

PGT – structural chromosome defect (PGT-SR)

Preimplantační genetické testování strukturních chromozomových vad u embryí s cílem identifikovat nebalancovaná a aneuploidní embrya a vyloučit je z transferu. Dle typu a velikosti strukturní chromozomové vady se provádí buď metodou NGS, anebo SNP array.

Material:

Trophectoderm, Amplified DNA from the trophectoderm

Turnover Time:

4 weeks

STATIM

2 weeks

PGT – monogenic disease (PGT‐M)

Preimplantation genetic testing of monogenic diseases in embryos by karyomapping (SNP array) to determine their genotype and to test aneuploidy. Embryos carrying a genotype associated with the development of a genetic disorder or a variation in the number of chromosomes are not recommended for transfer.

Material:

Trophectoderm, Amplified DNA from the trophectoderm

Turnover Time:

4 weeks

STATIM

2 weeks

Uniparental foetal disomy

Preimplantation genetic testing aimed at demonstrating that for each pair of chromosomes, one chromosome from the father and one from the mother is present in an embryo or foetus sample.

Material:

Trophectoderm, Amplified DNA from the trophectoderm

Turnover Time:

4 weeks

STATIM

2 weeks