Genetic examinations list
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Karyotyping of the couple, preconception diagnosis
Karyotyping to determine numerical and structural chromosomal aberrations (deviations) in patients planning a family.
Material:
Peripheral bloodTurnover Time:
8 weeksSTATIM
4 weeksKaryotyping of the patient, preconception diagnosis
Karyotyping to determine numerical and structural chromosomal aberrations (deviations) in patients planning a family.
Material:
Peripheral bloodTurnover Time:
8 weeksSTATIM
4 weeksKaryotyping in gamete donation candidate
It is used to determine karyotype by classical cytogenetic methods to determine numerical and structural chromosomal aberrations (deviations) of the gamete donor.
Material:
Peripheral bloodTurnover Time:
8 weeksSTATIM
4 weeksKaryotyping in postnatal diagnosis
Karyotyping to determine numerical and structural chromosomal aberrations (deviations) in postnatal diagnosis.
Material:
Peripheral bloodTurnover Time:
8 weeksSTATIM
4 weeksHereditary spastic paraparesis (SPG4 – SPAST gene, SPG31 – REEP1 gene) – familial AD
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 weeksSTATIM
3 weeksHLA DQA1*05 (rs2097432) testing for anti-TNF biological therapy
Detection of rs2097432 (HLA DQA1*05 allele) by real-time PCR diagnostic kit.
Material:
Peripheral blood, Buccal swab …
Peripheral blood, Buccal swab, Isolated DNA from blood