"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.
- Chelly J, Mandel JL. Monogenic causes of X-linked mental retardation. Nat Rev Genet. 2001 Sep;2(9):669-80.
- Ropers HH, Hamel BC. X-linked mental retardation. Nat Rev Genet. 2005 Jan;6(1):46-57.
- Strobl-Wildemann G, Kalscheuer VM, Hu H, Wrogemann K, Ropers HH, Tzschach A. Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability. Am J Med Genet A. 2011 Dec;155A(12):3067-70.
- Dieckmann PM, Lucena LC, Dutra LA, Pedroso JL, Barsottini OG. Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome. Arq Neuropsiquiatr. 2013 Jan;71(1):68-9.