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Our Services - Copy Number Variants by MLPA

What is Multiplex Ligation-Dependent Probe Amplification (MLPA)?

While whole genome sequencing (WGS) can identify copy number variants (CNVs), otherwise known as large deletions and duplications. WGS is not always the most efficient or cost-effective option for every situation.

In cases where a specific CNV has already been identified through previous testing or research, MLPA can be a targeted and efficient way to confirm the presence of a particular CNV in a patient's DNA. This is because MLPA probes are designed to target precise locations within the genome and accurately quantify the number of genetic copies present.

Clinical Advantages of MLPA?

1.   Targeted analysis: MLPA allows for location specific detection and quantification of copy number changes of interest. It uses specific probes that bind to the target regions containing the variants, enabling precise quantitative analysis of the desired genomic regions. This targeted approach is advantageous when focusing on known variants and avoids the need to analyse the entire genome.

2.   Cost-effectiveness: MLPA is a cost-effective technique for analysing known CNVs. It involves amplification and detection of specific genomic regions of interest, which reduces the overall sequencing and computational costs compared to whole genome sequencing and analysis. MLPA can target multiple precise locations in one assay.

3.   Sensitivity and specificity: MLPA has high sensitivity and specificity for detecting CNVs. The technique utilizes highly specific probes that bind to the target sequences, allowing for accurate detection and quantification of genetic variations.

4.   Time efficiency: MLPA can provide relatively rapid results compared with whole genome analysis. It involves a focused analysis of specific genomic regions, which results in a shorter sequencing and analysis time.

5.   Validation and quality control: MLPA has been widely used and validated in clinical practice, providing a robust and reliable platform for the detection of CNVs. It has established quality control measures, ensuring accurate and reproducible results. 

Request Form
Sanger Sequencing or MLPA Request Form

Version: 5.0          Release Date: 04/10/2023

Please ensure you provide the specific location of the target base(s). For the sequencing of whole genes or gene families, please use the whole genome sequencing request form.

Turn-Around Time

4-6 weeks

Please note: TATs are dependant on the receipt of a completed test request form (including consent) and specimen(s).


All testing done through Canberra Clinical Genomics is free for ACT and surrounding residents and their family members.

Currently, no paid services are available to residents outside the ACT and surrounding area so eligibility is essential.

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