Genetic examinations list
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Addition of compatibility testing to the partner’s CarrierTest
When to use this test: We have already performed CarrierTest in the patient, the partner either underwent it too or is now indicated for this test, but they have not yet been tested for their mutual compatibility, which is now required.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
6 weeksSTATIM
3 weeksA1298C polymorphism in the MTHFR gene
Testing for A1298C polymorphism in the MTHFR gene by real-time PCR.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
3 daysANXA5 gene M2 haplotype
Determination of risk M2 haplotype in the ANXA5 gene by diagnostics of four variants in the regulatory region of the ANXA5gene (rs112782763, rs28717001, rs28651243 and rs113588187) by real-time PCR.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
3 daysSOD1 gene testing – familial amyotrophic lateral sclerosis (ALS)
Testing for all coding exons (1, 2, 3, 4, 5) including adjacent SOD1 gene intron sequences by Sanger sequencing.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
1 weekPABPN1 gene testing (exon 1) – oculopharyngeal muscular dystrophy (OPMD) – familial AD
PCR amplification and sequencing of PABPN1 gene (associated with oculopharyngeal muscular dystrophy) to detect GCG triplet expansion.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
1 weekMTM1 gene testing – X-linked myotubular myopathy congenital
Sequencing of 14 coding exons in the MTM1 gene.