Telomery (badanie regionów subtelomerowych) test MLPA
Analysis ID 15
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Telomery (badanie regionów subtelomerowych) test MLPA
OMIM
Clinical information Etiology of intellectual disability is extremely heterogeneous. Important factors that play a role in the etiology of intellectual disability include environmental, as well genetic causes. High genetic heterogeneity of the molecular cause of intellectual disability makes the discovery of a causative alteration extremely difficult (f. e. 20-50% cases with severe intellectual disability remain undiagnosed). Subtelomeric rearrangements are relatively frequent within the population of patients with sporadic form of intellectual disability, who additionally present with dysmorphic features (about 5% patients with intellectual disability).
Type of analysis Molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes Subtelomeric regions
Analysis description Quantitative analysis (detection of duplications-deletions) of the subtelomere regions for each chromosome using MLPA method.
Analysis indication Psychomotor retardation, intellectual disability, especially accompanied with dysmorphic features. Patients who have excluded other common causes of intellectual disability (f. e. FRAX, karyotype) .
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for molecular genetics