Newsletter 01/2013


Meet our experts at our booth # 740 at the ACMG conference in Phoenix, USA :: March 19-23, 2013



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

"Rare disorders without borders" - this year's theme of the Rare Disease Day reflects vividly the ongoing need not to stop thinking on all patients suffering from a rare disease, no matter which country they live in.
Centogene continues to successfully looking after the needle in the haystack - by always answering your clinical questions with our genetic and medical expertise.

Next Generation Sequencing (NGS) at Centogene strongly substantiates our high valuable diagnostic expertise. We use comprehensive and are developing new bioinformatic tools for the complex analysis of NGS, whole exome and genome data. It is always our goal - also with these innovative technologies - to address clinical needs and patients' questions.
To give you a deeper technical insight on how NGS is performed at Centogene, we are pleased to provide some information in a detailed report.

NGS perfectly addresses the complexity and heterogenous phenotype of neuropsychiatric diseases. Contemporary science estimates that 20% of the world population suffer from at least one of more than 600 neuropsychiatric diseases.

X-linked mental retardation:
Mental retardation is a significant impairment of cognitive and adaptive functioning, with onset before age 18 years and it occurs in about 1-3% of the population. Among affected patients, there is historically an increase occurance in males versus females that has long been noted and is generally explained by the presence of many genes responsible for mental retardation on the X-chromosome.
X-linked mental retardation is usually present in association with a specific pattern of physical, neurological, and/or psychiatric abnormalities or it indicates a condition segregating in an X-linked manner in which male patients have no consistent phenotypic manifestations other than MR. More than 100 genes responsible for MRX have been identified.

Centogene is offering an extensive and highly validated NGS-based panel for molecular diagnostic of X-linked mental retardation, that includes e.g. following genes: ABCD1, ACSL4, AFF2, AGTR2, AP1S2, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BRWD3, CASK, CDKL5, CUL4B, DCX, DLG3, ELK1, FANCB, FGD1, FLNA, FMR1, GDI1, GK, GPC3, GRIA3, HCCS, HPRT, HSD17B10, HUWE1, IGBP1, IL1RAPL1, KIAA2022, KDM5C, KLF8, L1CAM, LAMP2, MAGT1, MAOA, MBTPS2, MECP2, MED12, MID1, NDP, NDUFA1, NHS, NLGN3, NLGN4X, NSDHL, NXF5, OCRL, OFD1, OPHN1, OTC, PAK3, PDHA1, PGK1, PLP1, PORCN, PQBP1, PRPS1, RPL10, RPS6KA3, SLC16A2, SLC6A8, SLC9A6, SMC1A, SOX3, SRPX2, SYN1, TIMM8A, UBE2A, UPF3B, ZDHHC9, ZDHHC15, ZNF41, ZNF81, ZNF711.

Having in mind the clinical burden for the patients, we offer an attractive short turnaround-time.


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