Basic characteristics of the test:
The assay includes confirmation and clinical diagnosis of submicroscopic imbalances (microdeletions and microduplications) detected by chromosomal microarray analysis (CMA), affecting specific genomic regions which lead to the manifestation of 30 syndromic complexes, described in the Table above.
Reasons for referring:
Confirmation and segregation analysis of genomic imbalances detected by CMA.
Interpetation of the results:
With this test, it is possible to confirm only those chromosomal imbalances detected by microarray analysis that contain probes for chromosomal regions listed in the table above. In case of MLPA confirmation of detected by CMA pathogenic chromosomal aberration, the corresponding genetic diagnosis is made.
It is possible to reject detected by CMA aberration, and in most cases the reason is poor quality of the source material, respectively the analyzed DNA.
The MLPA test can also be used alone to look for deletions / duplications as a cause of the 30 syndromic conditions described in the table above. In this case, the search scope will be smaller compared to microarray technology.
The genetic counselor will interpret and answer all questions about your result.
Method: MLPA (Multiplex- Ligation dependent Probe Amplification)
MLPA is a semi-quantitative method for determining Copy Number Variations (CNVs) of DNA. The methodology is used to detect intragenic or whole-gene deletions or duplications. The analysis for searching a selected set of microdeletions / microduplications (Described in the Table above) is performed using the MLPA probemix SALSA MLPA probemix P245 Microdeletion Syndromes-1A (MRC-Holland, Amsterdam, Holland)
Sensitivity of the method: 90%
What does the test involve?
• MLPA analysis of target genes / gene regions to detect pathogenic copy number variations.
• Forming a written result from the genetic test.
• Diagnostic interpretation of results and genetic counseling.
Biological material: Venous blood or DNA
For more information, please read "Biological Sample Requirements and Transport Information" carefully.
