Newsletter 14/2012


Next generation sequencing at a glance :: Expanded deafness single gene tests



Dear ###USER_title1### ###USER_last_name###,

   As the old year comes to meet the new year, we are sending you our best wishes for a
Happy New Year 2013.

   At Centogene we are committed to providing superior customer service and support, especially in the field of next generation sequencing (NGS).
NGS based on the pyro sequencing has a high level of quality control, especially be the fact that all detected changes in the sequence are being controlled by standard Sanger sequencing. That procedure avoids the most significant limitation of NGS, namely the detection of artifacts. Detailed, strictly quality procedures are the basis for the documentation of all bioinformatics procedures. All NGS testing uses the guidelines of ISO 15189, CAP and CLIA requirements.

   Hearing loss (sensorineural, deafness) is the most common sensory impairment in humans and the number of affected people with genetic etiology is ∼70%. To date, more than 130 deafness loci have been identified, and 57 genes have been cloned. More than 400 genetic syndromes that include deafness have been described. Among them are Waardenburg syndrome, the most common type of autosomal dominant syndromic deafness, Stickler syndrome, with complex presentation and genetics, Usher syndrome, the most common type of autosomal recessive syndromic deafness and many others. We offer gene tests for those diseases related to deafness so that proper strategic diagnostics will improve health status of deafness affected patients.


News on genes

Single gene establishment

  • Neurological diseases: MRE11A, CTDP1, GNAL, ANO3, PIK3R5, VLDLR, ETHE1, ZNF423, EXOSC8, NUBPL, NDUFAF1, NDUFAF3, NDUFA13, PC, MTTP, WDR62, CEP152, SLC25A19, CEP63, IER3IP1, MRE11A
  • Metabolic diseases: HSD3B2, OPA3, CYP17A1, POR, NBN, PRF1, HSD11B2, CLN3, MRPS16, INS, CYP11B2, LMBRD1, MOCS1, MOCS2, DCXR, PC, PDP1, TCN2
  • Ophthalmological diseases: TGFBI, ADAR, MITF, STRA6
  • Ear, Nose and Throat diseases: CIB2, TRMU, MITF
  • Bone, Skin and Immune diseases: EFEMP2, PYCR1, GJB6
  • Cardiological diseases: GJA5, MYH6, GATA6

If you have any questions or comments, please do not hesitate to contact us

Best regards,

Doreen Niemann
Senior Director Strategic Communication
Centogene AG


Centogene AG
Schillingallee 68
18057 Rostock


Responsible: Doreen Niemann
USt-IdNr.: DE813228872