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Single Gene Analysis

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The MGZ - Medical Genetics Center uses Sanger sequencing for small-scale applications in cases of a clear, clinically defined indication of a monogenic disease with an associated gene defect, or to identify individual familial disease-causing genetic variants through targeted analysis. For large genes or when further analysis is required, next-generation sequencing (NGS) may be used.

Tests Available

Single-Gene Sequencing

We offer single-gene sequencing by Sanger or by NGS. To find out if a gene listed in our test catalog is currently established by Sanger, or if we can offer the gene analysis by NGS, please contact us.

At the MGZ, our clinical geneticists and scientific team are continuously expanding our test menu in parallel with the latest scientific developments in disease diagnosis.

If a gene of interest is not listed in our test catalog, please contact us to see if we currently offer an analysis or if we can establish a new analysis for you.

Targeted Sequencing

Hotspot Analysis (Online Ordering Available)

The MGZ offers hotspot analysis as a first-tier analysis for a number of disease conditions.

Clinical Indication Gene Product Name
Neuropathy, distal hereditary motor, type VA; Silver spastic paraplegia syndrome BSCL2 BSCL2 Hotspots
Hypokalemic periodic paralysis, type 1 CACNA1S (Exons 11, 21 and 30) CACNA1S Hotspots
Encephalopathy, acute infection-induced, 3, susceptibility to RANBP2 variants p.Thr585Met, p.Thr653Ile, p.Ile656Val and p.Trp681Cys RANBP2 Hotspots
Leber Hereditary Optic Neuropathy (LHON) MT-ND1, MT-ND4, MT-ND6 MT-ND Hotspots

Click here for information about requesting pricing and ordering testing.


Familial Variant Testing (Offline Ordering Only)

The MGZ offers carrier/familial variant testing for known variants (one or two) in any gene, upon request. This testing is available for families previously tested at our laboratory or at an external laboratory.

Please read the details below for special requirements.

        Variant Testing: Family Member Previously Tested at the MGZ

Please provide the following information on the test request form:

  1. original MGZ laboratory number for the index patient tested,
  2. the name of the gene, variant, and LRG sequence or NM number, and
  3. the relationship of the family member to be tested to the index patient.

Testing of both parents of the index patient for predictive testing of a priori risk (autosomal dominant or recessive inheritance) is strongly recommended.

Variant Testing: Family Member Previously Tested at an External Laboratory

For families tested elsewhere, please provide the following:

  1. a copy of the original test results (include with sample)
  2. the name of the gene, variant, and LRG sequence or NM number, and
  3. the relationship of the family member to be tested to the index patient.


To request familial variant testing, please select one of the following test options and enter it in the test request form:

Gene Product Name (Offline Ordering Only)
Any Gene Familial Variant Testing – ONE variant
Any Gene Familial Variant Testing – TWO variants


  • Sanger sequencing
  • Next-generation sequencing (NGS)

Sample Requirements

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

  • Complete Single Gene Sequencing/Analysis: 3–6 weeks
  • Hotspot Analysis: 2-4 weeks
  • Familial Variant Testing (Targeted Sequencing)
    • Gene is established at the MGZ: 2-4 weeks
    • Gene is not yet established at the MGZ: 8-10 weeks

Price Inquiries & Test Ordering

To request price information:

  • Send your price request via MGZ's Inquiry/Order portal. (Hotspot analysis only)
    • Hotspot Analysis
      • Enter the Product Name e.g. BSCL2 Hotspots in the Individual Request field and click Add
      • Enter Prenatal Sample Handling & Processing (if applicable) in the Individual Request field and click Add.


  • Request a cost statement by using our convenient contact form. 


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.