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Updated: May 28, 2026
Multiplex PCR and Reverse Line Blot Hybridization Assay (mPCR/RLB)
Published on: August 6, 2011
[Multiplex Ligation - dependent Probe Amplification (MLPA) as a screening test in children with developmental defects
Izabela Laczmańska1, Aleksandra Jakubiak, Ryszard Slęzak
1Katedra i Zakład Genetyki AM, ul. Marcinkowskiego 1, 50-368 Wrocław. lacz@gen.am.wroc.pl
Unlabelled:
Developmental delay and intellectual disability are significant medical and social problems which concern 1-3% of population. The etiology remains unknown in over half of the cases.
The Aim:
To evaluate the efficiency of MLPA (Multiplex Ligation-dependent Probe Amplification) as a screening test in diagnosis of patients with developmental delay and/or intellectual disability.
Material And Methods:
313 MLPA tests were performed in 256 patients with developmental delay and/ or intellectual disability with unknown etiology. MLPA test was made after exclusion of genetic disorders possible to diagnose by dysmorphological examination or using specifi c genetic tests. Positive results were confirmed by FISH analysis with appropriate probes.
Results:
Chromosomal microaberrations were identifi ed in 15 patients (4,8%): deletions of 1p36 in 4 cases, in one case deletion of 22q11.21, 22q13.33, SNRPN1, 4ptel, 6qtel, 7q11.23, 16ptel, 18qtel as well as one ca se of deletion 3ptel/duplication 15qtel; deletion 18qtel/duplication Xqtel, and also duplication 7q11.23. Detail clinical analysis was performed in patients with diagnosed microaberrations in MLPA test.
Conclusions:
The molecular MLPA test, screening for chromosomal microaberration syndromes, should be performed in each patient with developmental delay and/or intellectual disability of unknown etiology and normal cytogenetic analysis, even if congenital defects and positive familial history do not exist.
Insights
Multiplex Ligation-dependent Probe Amplification (MLPA) effectively screens for chromosomal microaberrations in developmental delay and intellectual disability cases. This molecular test aids in diagnosing unknown etiologies, even without clear genetic indicators.
Area of Science:
- Genetics
- Molecular Biology
- Clinical Diagnostics
Background:
- Developmental delay and intellectual disability affect 1-3% of the population, with unknown causes in over half of cases.
- Accurate etiological diagnosis is crucial for patient management and genetic counseling.
Purpose of the Study:
- To assess the diagnostic efficiency of Multiplex Ligation-dependent Probe Amplification (MLPA) as a screening tool.
- To identify chromosomal microaberrations in patients with unexplained developmental delay and/or intellectual disability.
Main Methods:
- Performed 313 MLPA tests on 256 patients with idiopathic developmental delay/intellectual disability.
- MLPA was conducted after excluding disorders detectable by dysmorphology or specific genetic tests.
- Positive MLPA findings were confirmed using Fluorescence In Situ Hybridization (FISH) analysis.
Main Results:
- Chromosomal microaberrations were identified in 15 patients (4.8%).
- Specific deletions and duplications were detected, including 1p36 deletions (4 cases) and 22q11.21 deletion (1 case).
- Detailed clinical analysis was performed for patients with confirmed microaberrations.
Conclusions:
- MLPA is a valuable molecular screening test for chromosomal microaberration syndromes.
- It should be considered in all patients with developmental delay/intellectual disability of unknown origin, even with normal cytogenetics, no congenital defects, or family history.
