Genetic examinations list
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Predictive testing of known familial gene mutation from CarrierTest
Testing for carriage of familial pathogenic mutations detected during testing in the CarrierTest panel NGS test.
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 weeksSTATIM
1 weekPGT-M direct embryo sequencing
Testing for the presence of a known mutation in an embryo originating from one parent using (Sanger) sequencing of a specific region. Can only be done in conjunction with the PGT-M karyomapping method.
Material:
Trophectoderm, Amplified DNA from the trophectodermTurnover Time:
4 weeksSTATIM
2 weeksQF-PCR aneuploidy testing of chromosomes 13, 18, 21, X and Y
Rapid diagnostic testing of prenatal samples is used to determine aneuploidy of chromosomes 13, 18, 21 and sex chromosomes by QF-PCR.
Material:
Chorionic villi, Amniotic fluid …
Chorionic villi, Amniotic fluid, Cord blood, Isolated DNA from chorionic villi, Isolated DNA from amniotic fluid, Isolated DNA from cordocentesis, DNA isolated from cultured cells
STATIM
2 daysQF-PCR gender testing
Testing for sex chromosomes X and Y by QF-PCR.
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 weeksSTATIM
1 weekPredictive testing of familial mutation
Predictive testing of known familial mutation using Sanger sequencing.
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 weeksSTATIM
3 daysPaternity/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