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Deletion/Duplication Analysis

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A significant number of rare genetic diseases are caused by gene dosage abnormalities. Even small imbalances (deletions or duplications) can cause a clinically conspicuous phenotype. These copy number variations (CNVs), such as complete or partial deletion/duplication of single or multiple genes, can be detected by specific techniques and might otherwise go undetected, using standard gene sequencing analyses.

Tests Available & Methods

MGZ offers deletion/duplication analysis for different syndromes and disorders.

Some of the more common applications include:

  • Predisposition to Cancer
  • Neuromuscular Disorders
  • Intellectual Disabilities
  • Solid Tumors

Efficient and sensitive methods that serve as a detection system for the loss and/or gain of genomic regions and are incorporated as standard technologies in our laboratory include:

Next-Generation Sequencing (NGS)

MGZ offers NGS testing for deletions/duplications of important genes/gene fragments with every gene panel. The method tests all coding exons plus exon/intron borders (+/- 5 bp) for point mutations and small insertions/deletions, to approximately 50 bp. 

Dosage analysis using NGS represents one method for the detection of copy number variations (CNVs) and single nucleotide variants (SNVs) within a gene panel or single gene. Depending upon the clinical details of a patient, an additional dosage analysis using MLPA or CMA may be required. 

Genes for which a dosage analysis is included in our phenotype-based gene panels can be seen by viewing the associated test details.

View Test Catalog

MLPA Analysis

MLPA is the preferred method of analysis for the detection of large genomic deletions or duplications (>50 bp).

MLPA testing for genomic deletions and duplications is included in the following diagnostics:

  • BRCA1, BRCA2
  • Duchenne/Becker-Kiener Muscular Dystrophy (P20.20160615)
  • Hereditary Nonpolyposis Colon Cancer/Lynch Syndrome (P99.20160615)

In cases of gene panels with individual regions of insufficient coverage, MLPA deletion/duplication testing may be suggested as an option for further analysis.

MGZ offers MLPA for over 100 genes. Please contact us to find out if we offer an MLPA analysis for a gene you are interested in.

Chromosomal Microarray Analysis (CMA)

MGZ offers CMA for the detection of pathogenic copy number variants (CNVs). This high-resolution method is particularly useful for the following indications:

  • Developmental delay
  • Multiple congenital anomalies
  • Intellectual disability
  • Autism spectrum disorders

Sample Requirements (all methods)

Accepted Sample Types

  • 2-4 mL EDTA blood
  • 3-10 µg DNA
  • Other samples: Saliva, amniotic fluid, CVS

Please contact us prior to sending any prenatal samples.

Note: An additional fee applies for prenatal sample handling and processing.

View all sample requirements

Turnaround Time

  • 3–6 weeks
  • 2-4 weeks (targeted analysis only)

Price Inquiries & Test Ordering

To request price information:

  • Send your price request via MGZ's Inquiry/Order portal.
    • NGS
      • Select a gene panel from the catalog and click Request Price to add the gene panel to your cart.
    • MLPA
      • Enter MLPA and the name of the gene, e.g. MLPA BRCA1 gene in the Individual Request field and click Add.
    • Chromosomal Microarray Analysis (CMA)
      • Enter Chromosomal Microarray Analysis (CMA) in the Individual Request field and click Add.
    • Prenatal Sample Handling & Processing (if applicable)
      • Enter Prenatal Sample Handling & Processing in the Individual Request field and click Add.

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For detailed test ordering information:

  •  Please refer to the How to Order section of our website.

Questions? Contact us.

Sample Reports

To view a sample report, click here.