Molecular genetics

Molecular genetic screening has revolutionised the diagnostic possibilities in the past decades.

To date, about 6000 diseases have been described of suspected or established genetic cause. The invention of the polymerase chain reaction (PCR) has made a major contribution to this development. The method is used to amplify a single copy or a few copies of small sections of DNA. These amplification products are subsequently further analysed with regard to the DNA sequence (Sanger sequencing), size and quantity.

We at Bioscientia are currently expanding our range of human genetic services. Among others, we will take our focal areas in renal genetics (renal cysts and a number of other indications), hearing impairments, retinal diseases, and other syndromic ciliopathies (e.g. Meckel-Gruber, Joubert-, Jeune- and Bardet-Biedl syndrome) into account. If the indication you are looking for is not listed, please contact us directly.

Indications

  • confirming a suspected clinical diagnosis
  • clarifying the carrier property of monogenic diseases
  • clarifying the pathogenesis of a disease prior to prophylactic or therapeutic measures

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Sampling / shipping

Please send all molecular genetics samples non-refrigerated.

  • EDTA blood
    2-3 ml infants and toddlers
    4-10 ml teenagers and adults
  • DNA
    1-5 µg;
    for FraX analysis min. 20-50 µg

For prenatal examinations after prior consultation:

  • Heparin blood: 5-10 ml
  • Amniotic fluid: 15-20 ml

Request form: Molecular genetic diagnostics

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