Genetic examinations list
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Testing for the most common NBN (NBS1) gene mutation – Nijmegen breakage syndrome, primary microcephaly
Testing for the most common c.511A>G (p.Ile171Val), c.643C>T (p.Arg215Trp) and c.657_661delACAAA (p.Lys219Asnfs*16) mutations in the NBN gene (NBS1) responsible for Nijmegen breakage syndrome by Sanger sequencing.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
3 daysTesting for the most common CHRNE gene mutation (exons 11 and 12, 1267delG mutation) – congenital myasthenic syndrome (CMS)
Testing for the most common CHRNE gene mutations (exons 11 and 12, 1267delG mutation) especially in the Roma ethnic group, associated with congenital myasthenic syndrome (CMS), by Sanger sequencing.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
1 weekSOD1 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.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
1 weekEXOSC3 gene testing – pontocerebellar hypoplasia type 1 (PCH1)
Sequencing of 1 coding exon in the EXOSC3 gene for PCH1 (pontocerebellar hypoplasia type 1).