Single-gene diagnostic

To meet your expectations, we are continously expanding our offer


  • Versatile offer: We offer single-gene diagnostics for more than 1400 genes. Please, contact us if you can not find a gene - new genes are usually established within 4-6 weeks.
  • Years of experience: We have over 15 years experience in the field of molecular genetic diagnostics and offer a wide-range of analytical methods.
  • Clear and detailed reports: In our reports, we list all the relevant DNA-changes identified and interpret them in relation to the clinical diagnosis. If there are any questions about the report, our team of medical doctors (human geneticists, oncologists) and scientific personel will be happy to help you.
  • Short processing time: We don't want to let your patient wait. Hence, we try to be as fast as possible with our analysis. Depending on the size and complexity of the gene, analysis usally takes between 2-6 weeks. Prenatal diagnostic will be performed ussually in less than a week. You can call or email us to ask about the current state of your request +49-(0)761-896454-0 or kontakt[at]humangenetik-freiburg.de.
  • Billing: For german patients, the public health insurance ("gesetzliche Krankenversicherung") covers genetic analyses. We do accept the S2-form (formerly E112) which is sometimes available for patients from europe. For privately insured patients and self-payers we highly recommend to contact us beforehand to request a quote.

  • Sample material: The preferred material is ~5 - 10 ml EDTA-blood. This can be send at room-temperature as long as delivery time does not exceed 4-5 days. Please, make sure the sample is in a leak proof package. We also accept other materials such as DNA, oral muccosa, amniotic fluids and tissue. More details can be found in the section Qualitätssicherung (only available in german at the moment). For all prenatal cases, we ask to contact us beforehand.

  • Forms: According to the german law, we require an informed consent as well as a written request (requisition form) for genetic testing. We ususally also accept informed consent forms from other countries. Please, contact us if there are any questions whether the documents you have are sufficient. Please, note, that according to the german law, a genetic test can only be requested by medical doctors or human geneticists.


  • Information about Diagnostic gene panels, or Array-CGH can be found following the link.

    No matter what your questions are, please, do not hesitate to contact us.

    Test methods (partly still in german)

    Which test method will be used?

    We ususally apply all the methods required to perform an exhaustive analysis of the gene requested. In most cases, this involves sequencing of the coding regions including +/- 20nt into the intron at the exon/intron boundary. If larger deletions or duplications are known for the gene, or if we can not find a second mutation for recessive diseases, we perform del/dup analysis either by MLPA or quantitative PCR. For Triplett-repeat diseases we do analysis the number of repeats using a PCR-based method.

    We also offer CGH-Array analysis for unclear syndromes or intellectual disabilities or diseases known to be caused by large chromosomal abberations. Chromsomal analysis will be forwardeed to our cooperation laboratory, You will receive the report inclduing the interpretation from us. The description of the methods are only available in german:

    1. Sanger-Sequenzierung

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    3. Deletions-/Duplikations Analyse

    Wir bieten für eine Reihe von Genen über die Sequenzanalyse hinaus Untersuchungen auf Deletionen/ Duplikationen an. Methodisch arbeiten wir hierzu mit Quantitativer Real Time PCR oder mit MLPA (Multiplex-Ligation Dependant Probe Amplifikation).

    Sollten Sie für ein bestimmtes Gen kein solches Angebot finden, fragen Sie nach. Wir können gerne auch neue Untersuchungen etablieren. Unsere Erfahrungen auf diesem Gebiet können Sie in unseren Veröffentlichungen nachlesen: Borozdin et al. 2006a (TBX5-TBX3 Deletion) Borozdin et al. 2006b(intragenische TBX5 Del.) Borozdin et al. 2006c (SALL1 Deletionen) Borozdin et al. 2004 (SALL4 Deletionen) genaue Zitate siehe unter "Publications".

    4. Fragmentanalyse

    z.B. bei Triplett- Repeaterkrankungen Bei der Fragmentanalyse wird mittels PCR der Genbereich, in welchem die Repeats liegen amplifiziert und mittels exakter Größenbestimmung der Amplikons auf dem ABIXXX die vorhandene Repeat-Anzahl bestimmt.

    6. Chromosomenanalyse und FISH

    Zytogenetische Leistungen wie Chromosomenanalysen und FISH werden von uns als Unterauftrag angeboten und an das qualifizierte Partnerlabor weitergeleitet.