Genetic examinations list
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Karyotyping in postnatal diagnosis
Karyotyping to determine numerical and structural chromosomal aberrations (deviations) in postnatal diagnosis.
Material:
Peripheral bloodTurnover Time:
8 weeksSTATIM
4 weeksStereocilin 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 daysKIR (Killer-cell immunoglobulin-like receptor) haplotype evaluation
The KIR haplotype (A/B) determination method allows for the identification of the mother's genetic makeup in the region of KIR receptors. These receptors play a crucial role in the communication between the mother's immune system and the embryo during pregnancy, where they recognize HLA-C molecules on the embryo's surface. Analysis of the KIR haplotype can help reveal specific maternal genotypes that, in combination with the fetal HLA-C, may be associated with a higher risk of pregnancy complications.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
3 weeksSTATIM
2 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, Buccal swab …Turnover Time:
3 weeksSTATIM
3 daysSmith-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).