CeGaT now provides sequencing analysis of distinct gene sets (focus panels) for the genetic clarification of well-defined clinical diagnoses. Each new focus panel contains a specific selection of genes. The focus panel analysis therefore represents a cost effective alternative to the large diagnostic panels in cases with clear and characterized disorders. The genes of the respective focus panels are sequenced and interpreted in parallel which allows for fast processing times.
The new focus panels cover a variety of different genetic disorders across several medical fields and, for some disease classifications, they broaden the existing CeGaT large panel portfolio. For example, from now on mutations in genes associated with glucose metabolism may be analyzed, therefore providing a reliable MODY (Maturity Onset Diabetes of the Young) syndrome diagnostic test. Furthermore, CeGaT now substitutes the previous multi-stage Sanger diagnostic process for Hereditary haemorrhagic telangiectasia (HHT) or Afibrinogenemia/Dysfibrinogenemia with the faster, and more cost effective NGS based focus panel analysis.
CeGaT now provides focus panels for the following diseases:
Afibrinogenemia/Dysfibrinogenemia, Common variable immune deficiency, Tuberous sclerosis, Hereditary breast and ovarian cancer (small), Hereditary breast and ovarian cancer (large), Lynch syndrome, Hereditary hemorrhagic telangiectasia (HHT), Neurofibromatosis, Hyperekplexia, Holoprosencephaly, Refsum disease, Episodic ataxia, Dopa-responsive dystonia, Neuropathic pain syndromes, Malignant hyperthermia, Familial intrahepatic cholestasis, Maple syrup urine disease, Maturity onset diabetes of the young (MODY), Kabuki syndrome and Craniosynostoses.