Whole exome sequencing at Centogene :: Statistics on confirmed cases/carriers 2012/2013
Not all genetic disorders can be clinically diagnosed by the sequencing of a single gene; sometimes a more powerful screening-like technology must be used to detect the causative gene in hereditary disorders with an unspecific phenotype.
Centogene provides for its whole exome sequencing (CentoXome®) a comprehensive next generation sequencing workflow with the fastest sequencing run times and extensive quality criteria by using the IonTorrent/Proton system.
The system covers more than 97 % of coding regions as provided by Consensus Coding Sequences. The mean coverage depth for 80 % of bases is 117x, with > 92 % of bases covered at ≥ 20x.
With our Mutation Database (CentoMD®) with its systematic documentation of over 100,000 mutations and variants of unknown significance (VUS) coming from a worldwide cohort of patients, we are offering a tool that addresses the necessity to transfer the findings into a comprehensive medical report, empowering clinical interpretation.
Find out more about our 3 service packages for CentoXome® here
News on genes & panels
NGS panel analyses
- Ashkenazi panel (basic); HEXA (7 mutations), IKBKAP (2 mut), ASPA (4 mut), MCOLN1 (2 mut), FANCC (2 mut), SMPD1 (4 mut), BLM (1 mut)
- Ashkenazi panel (advanced); GBA (8 mutations), CFTR (26 mut), HEXA (7 mut), IKBKAP (2 mut), ASPA (4 mut), G6PC (2 mut) ABCC8 (2 mut), MCOLN1 (2 mut), BCKDHB (3 mut), FANCC (2 mut), DLD (2 mut), SMPD1 (4 mut), CLRN1 (1 mut), PCDH15 (1mut), BLM (1 mut), NEB (1 mut)
- Bethlem myopathy panel; COL6A1, COL6A2, COL6A3, COL12A1
- Retinitis pigmentosa AD panel; ABCA4, BEST1, CA4, CRX, FSCN2, GUCA1B, IMPDH1, KLHL7, NR2E3, NRL, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, RDH12, RGR, RHO, ROM1, RP1, RP2, RP9, RPE65, RPGR, SEMA4A, SNRNP200, TOPORS
- Retinitis pigmentosa AR panel; ABCA4, BBS1, BEST1, C2ORF71, C8ORF37, CERKL, CNGA1, CNGB1, CRB1, DHDDS, EYS, FAM161A, FLVCR1, GNPTG, IDH3B, IMPG2, LRAT, MAK, MERTK, NR2E3, NRL, PDE6A, PDE6B, PDE6G, PRCD, PROM1, RBP3, RDH12, RGR, RHO, RLBP1, RP1, RP2, RPE65, RPGR, SAG, SPATA7, TTC8, TULP1, USH2A, ZNF513
- Seckel syndrome panel; ATR, RBBP8, CENPJ, CEP152, CEP63, ATRIP)
- Spherocytosis, hereditary panel; ANK1, EPB42, SLC4A1, SPTA1, SPTB)
Single gene analyses
Please have a deeper look at our CentoBrief Dec 2013 to see all of our recently added single gene tests, e.g. for
- Metabolic diseases (Surfactant metabolism dysfunction, pulmonary types 1-5)
- Neurological diseases (Spinocerebellar ataxia types 4, 8, 35, 36)
- Ear, nose and throat diseases (Deafness nonsyndromic sensorineural mitochondrial)
- Bone, skin and immune diseases (C2 and C3 deficiency)
- Liver, kidney and endocrinological diseases (Factor XI and XII deficiency)
- Reproductive genetics (Persistent Mullerian duct syndrome, types I and II)
- Tumoral and haematological diseases (Spherocytosis, hereditary, types 2 and 3)
- Malformation and retardation syndromes (Seckel syndrome)
We are pleased to present our statistical analysis (download pdf) of confirmed cases/carriers at
Centogene between January 2012 and September 2013, empowering our extensive understanding in the genetic diagnostics of rare diseases.
The validation of confirmed mutations is always based on a careful evaluation of the clinical phenotype, extensive literature search, comprehensive pedigree analysis and predictive programs.
If you have any questions or comments, please do not hesitate to contact us.
Senior Director Strategic Communication