Multiplex Ligation-dependent Probe Amplification

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What is MLPA?

MLPA (Multiplex Ligation-dependent Probe Amplification) is a laboratory technique used in genetic testing to detect abnormal copy numbers of specific genes or gene segments. This technique allows healthcare professionals to identify when a person has too few (deletions) or too many (duplications) copies of a DNA sequence, which is critical for diagnosing disorders caused by missing or extra genetic material.

What Genetic Conditions Can MLPA Diagnose?

  • Neuromuscular disorders — Duchenne and Becker muscular dystrophy (DMD/BMD), Spinal Muscular Atrophy (SMA); detected via exon-level deletion/duplication analysis.
  • Neurodevelopmental disorders — Prader-Willi syndrome, Angelman syndrome, Rett syndrome, DiGeorge syndrome; detected via MS-MLPA (methylation-specific MLPA).
  • Hereditary cancer syndromes — Hereditary breast and ovarian cancer (BRCA1/2), Lynch syndrome (MSH2/MLH1); detected via exon deletion/duplication testing.

Test Specification

Variant

Copy number variants (deletion/duplication)

Sample type

Blood in EDTA

TAT

2-3 weeks

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Why choose OneDNA

Comprehensive Coverage

Comprehensive testing across both molecular and cytogenetic platforms

Accredited Laboratories

NABL & CAP accredited lab

Support & Care

End-to-end support including genetic counselling and report guidance.

Early & Accurate

High accuracy with advanced technologies and stringent quality controls

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Frequently Asked Questions

MLPA is designed to identify missing or extra pieces of genes (copy number changes) that are often too small to be picked up by routine genetic tests.

Not necessarily. MLPA is used for both rare genetic disorders (like muscular dystrophy or SMA) and more common hereditary risks, including certain cancers like BRCA-related breast cancer.

There’s a family history of genetic conditions You’ve received unclear or inconclusive genetic test results before A doctor suspects a condition linked to gene deletions or duplications

Yes, this is one of its strongest use cases. MLPA can identify carrier status or inherited conditions, helping: Couples make informed decisions Reduce risk of passing on genetic disorders

They serve different purposes: NGS → Reads DNA in detail (good for mutations) MLPA → Measures DNA quantity (good for deletions/duplications)

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