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MLPA analysis
Detects gene deletions and duplications that sequencing misses
MLPA (Multiplex Ligation-dependent Probe Amplification) is a technique developed by MRC Holland (Netherlands) that measures the copy number of dozens of DNA targets in a single reaction. It reliably detects missing (deleted) or doubled (duplicated) exons and genes, a class of variants that routine DNA sequencing often overlooks. GHC Genetics is an MRC Holland service laboratory: we run MLPA in our own accredited laboratory for patients, clinicians and other laboratories, from our own sampling or from isolated DNA you send us.
NEGATIVE SEQUENCING
Symptoms or family history suggest a hereditary disorder but gene sequencing found nothing.
CONFIRMING A FINDING
Another method (NGS, array) indicated a deletion or duplication that needs confirmation.
FAMILY TESTING
A relative carries a known deletion or duplication and you want to know whether you carry it too.
LABORATORIES AND CLINICIANS
Your site does not run MLPA. Send us isolated DNA and we will perform the analysis.
DETAILED INFORMATION
What MLPA does MLPA compares the amount of selected DNA targets in your sample with reference samples and determines, for each target (typically one exon), whether it is present in two copies, one (deletion) or three or more (duplication). One reaction covers up to several dozen targets, typically all exons of one or several genes. MS-MLPA additionally assesses DNA methylation, the cause of some hereditary syndromes.
Why it matters Large deletions and duplications account for a substantial share of causative variants in many hereditary disorders, yet sequencing detects them poorly. MLPA therefore complements sequencing, for example in hereditary breast and ovarian cancer (BRCA1, BRCA2), Lynch syndrome (MLH1, MSH2, MSH6, PMS2), familial adenomatous polyposis (APC), Duchenne/Becker muscular dystrophy (DMD), spinal muscular atrophy (SMN1, SMN2), hereditary neuropathies (PMP22) and microdeletion syndromes.
Sample requirements Buccal swab with our sampling kit or a blood draw at our clinic; or isolated genomic DNA: at least 20 ng/µl, at least 20 µl (≥ 400 ng), in TE buffer, A260/A280 1.8–2.0. Label the tube with the sample ID and date and state the isolation method and source material (blood, swab, tissue).
For professional sites As an MRC Holland service laboratory we accept samples from clinicians, hospitals, laboratories and research sites in the Czech Republic and abroad. Tell us which probemix and how many samples you need and we will arrange the details.
How does the whole process work?
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Choose the probemix
Do poznámky k objednávce napište, které sondové sady (kity) nebo geny chcete vyšetřit.
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Complete the order
Choose the sample type. If you want to send isolated DNA and do not need a sampling kit, say so in the note.
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Result
You will receive the result within 25 working days of receiving the sample.
Frequently Asked Questions
It detects missing or doubled DNA segments (exon and gene deletions and duplications) and, with MS-MLPA, methylation changes. It does not detect small changes in the DNA sequence (point mutations); that is what sequencing is for. The two methods complement each other.
Yes. State in the order note that you will send isolated DNA; we then do not send a sampling kit. Sample requirements and the shipping address are in the detailed information above.
By the gene or disorder you want tested. If unsure, describe the finding or diagnosis in the order note and we will recommend a probemix.
Sequencing reads DNA letter by letter and looks for small changes. MLPA measures how many copies of a DNA segment you have and finds larger missing or doubled parts. Many genes need both.
⏱ You will receive the result within 25 working days of receiving the sample or isolated DNA.