Genetic examinations list
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Spinal 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 daysExamination by microArray technique (SNP Array)
Examination by SNP array method for genome-wide detection of submicroscopic chromosomal aberrations (deletions and/or duplications) in samples of postnatal origin.
Material:
Chorionic villi, Amniotic fluid …Turnover Time:
4 weeksSTATIM
2 weeksSmith-Lemli-Opitz syndrome – detection of the 3 most common mutations in the DHCR7 gene (p.Trp151Ter, p.Val326Leu and c.964-1G>C)
Screening of the 3 most common DHCR7 gene mutations: c.452G>A (p.Trp151Ter), c.976G>T (p.Val326Leu), c.964-1G>C (IVS8-1G>C) using Sanger sequencing, which represent about 81% of all mutations in patients with SLOS (Smith-Lemli-Opitz syndrome, OMIM 270400).
Material:
Chorionic villi, Amniotic fluid …Turnover Time:
3 weeksSTATIM
1 weekStereocilin gene fragmentation analysis
Targeted testing for STRC gene deletion by QF-PCR (Stereocilin gene) responsible for hearing impairment DFNB16.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
3 daysExpert paternity test by court order
Expert paternity test by court order. The material is collected in the presence of a forensic expert and the results are provided with an expert opinion. The results of this test are intended for use in legal proceedings.
Material:
Peripheral blood, Buccal swabSpinal 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).