Hot spot testing for the most frequently identified mutations soon available
Dear ###USER_title1### ###USER_last_name###,
We would like to take this opportunity to give you a brief overview on our activities in the previous months.
Centogene AG successfully CAP accredited
Centogene AG has received accreditation from College of American Pathologists (CAP). CAP accreditation demonstrates the highest standards of care for all laboratory practices and ensures excellence across all of our provided services. Prof Arndt Rolfs, Chief Medical Director of Centogene, states: “While the CAP-accreditation confirms that we meet international requirements, we continuously strive to exceed them”.
Centogene AG will be present at the 2013 European Human Genetics Conference (ESHG)
The conference will take place from June 8-11 at the Palais des Congres in Paris, France. Performing its 46th year, the ESHG is considered to be one of the premier events in the field of human genetics and is expecting over 2 500 international delegates participating in more than 100 oral presentations, 16 workshops and 8 educational sessions.
We look forward to meeting with you at our booth #664 to discuss the exciting advances we are making in the field of genetic diagnostics.
For more information, please contact us directly or visit the conference website (https://www.eshg.org/programme2013.0.html).
Centogene AG now offers a NGS Panel for genetic testing of Cornelia de Lange syndrome
Cornelia de Lange syndrome is a developmental disorder that affects multiple body parts and has broad varieties of clinical features, ranging from relatively mild to severe disease. Major symptoms include delayed growth, intellectual disability, skeletal abnormalities, distinctive facial features, and it mostly includes hypertrichosis (excessive body hair), microcephaly, hearing loss, short stature, cleft palate. Cornelia de Lange syndrome likely affects 1 in 10,000 to 30,000 newborns. Mutations in three genes (NIPBL, SMC1A and SMC3) are generally reported as the only cause of the disease. However, in about 35 percent of cases, the cause of Cornelia de Lange syndrome is unknown. Therefore, we have crated NGS Panel that includes not only 3 genes commonly associated with Cornelia de Lange syndrome, but also includes two genes, RAD21 and HDAC8, where recently new mutations related to this disease were reported.
Deardoff et al.; HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature. 2012 Sep 13;489(7415):313-7.
Deardoff et al.; RAD21 mutations cause a human cohesinopathy. Am J Hum Genet. 2012 Jun 8;90(6):1014-27.
News on genes & panels
NGS panel analyses
- Central hypoventilation syndrome panel (RET, GDNF, EDN3, BDNF, ASCL1, PHOX2A, PHOX2B, ZEB2, GFRA1, ECE1, MECP2)
- Coffin-Siris syndrome panel (ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1)
- Cornelia de Lange syndrome panel (SMC1A, NIPBL, SMC1A, SMC3, RAD21, HDAC8)
- Diabetes neonatal permanent panel (ABCC8, FOXP3, G6PC2, GCK GLIS3, INS, INSR, KCNJ11, NEUROG3)
- Hirschsprung disease panel (ECE1, EDN3, EDNRB, GDNF, KIAA1279, NRG1, NRTN, RET, SOX10, ZEB2)
- MODY panel (ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KLF11, NEUROD1, NKX2-2, PAX4, PDX1, RFX6, ZFP57)
- Primary ciliary dyskinesia panel (DNAI1, DNAAF3, DNAH5, HYDIN, NME8, DNAH11, DNAI2, RSPH4A, RSPH9, DNAAF1, CCDC39, CCDC40, DNAL1, CCDC103, HEATR2, LRRC6, CCDC114)
If you have any questions or comments, please do not hesitate to contact us.
Senior Director Strategic Communication