Genetic examinations list
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Predictive testing – a partner carries the gene mutation from CarrierTest (including compatibility of the couple)
CarrierTest is a panel NGS test of selected regions using data from exome libraries.
When to use this test: The partner is already a known carrier of the gene mutation detected in our laboratory by CarrierTest. Therefore, the patient is indicated to be tested for all mutations of the gene, which will also be performed by CarrierTest and the compatibility of both partners determined.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
6 weeksSTATIM
3 weeksPredictive 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 …Turnover Time:
3 weeksSTATIM
1 weekPredictive testing – a partner carries the gene mutation from CarrierTest but not tested in GNTlabs
CarrierTest is a panel NGS test of selected regions using data from exome libraries.
When to use this test: The partner is already a known carrier of a mutation in the gene that is included in the CarrierTest, so the patient is indicated to be tested for all mutations in the gene, which will also be performed by CarrierTest, but the partner has not been tested in our laboratory and compatibility will not be tested.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
6 weeksSTATIM
3 weeksSpinal muscular atrophy – determination of copy number of exon 7 and 8 in the SMN1 gene
Examination of SMN1 and SMN2 genes associated with spinal muscular atrophy (SMA) by MLPA method. This concerns an autosomal recessive disease that is most often associated with homozygous deletion of exon 7 in the SMN1 gene (almost 95% of all patients with SMA).
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
3 weeksSTATIM
3 daysPGT 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 …Turnover Time:
4 weeksSTATIM
2 weeksPGT 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.