CeGaT explains unclear syndromic disease of a six-year-old boy

Doctors of the Institute of Clinical Genetics at the Klinikum Stuttgart succeeded in revealing the molecular cause of the to-date unclear syndromic disease of a six year old boy by using CeGaT’s diagnostic sequencing service.

After performing some conventional diagnostics (karyotyping, arrayCGH diagnostics) at the Klinikum Stuttgart, a trio exome analysis (where both patient and parents are examined) from leukocytes revealed a PTPN11 germline mutation that could not completely explain the phenotype. Only with the implementation of CeGaT’s somatic tumor panel was somatic mosaicism of the PIK3CA gene could be detected from a saliva sample of the patient, which confirmed the clinical diagnosis of a megalencephaly-capillary malformation syndrome.

The results were published in the European Journal of Human Genetics. The article explains the coincidence of these two variants; moreover, a novel pathogenetic “second hit” model is presented.

CeGaT cooperates with N-of-One on tumor diagnostics

CeGaT is partnering with N-of-One in the field of tumor diagnostics to provide high quality, up-to-date interpretation of mutations with very rapid turnaround times.

Official press release CeGaT (pdf)

CeGaT offer most comprehensive Diagnostics of Tumors

CeGaT has developed a panel for the detection of somatic mutations in cancer. More than 550 state of the art genes relevant for cancer have been selected to create the most comprehensive NGS cancer gene panel available. Somatic mutations are detected by comparing the sequences of tumor and normal tissue. A very high coverage allows the detection of mutations even in tumor subclones or in samples with low tumor content. Knowledge of somatic mutations helps to select an individual therapy to improve the response rate and reduce side effects.

Simultaneously CeGaT has updated the hereditary cancer panels, adding new genes and new panels. Beside the panels for colon cancer, breast and ovarian cancer, prostate cancer, pheochromocytoma and tumor syndromes there are now panels for renal cell cancer, pancreatic cancer, familial melanoma and the tumor associated syndromes Xeroderma Pigmentosum and Fanconi Anemia.

Please visit the new section of our Tumor Diagnostics.