Scientific data on selected ophthalmological and metabolic diseases :: Prenatal whole exome sequencing
Genetic insights into selected ophthalmological diseases
Genetics play a significant role in ophthalmological problems. There is evidence that most common problems related to the eyes among children and adults are genetically determined (download research abstract here).
There are more than 1,800 syndromes that involve eye disease as a component, and further individual and family case reports of hereditary eye disorders not yet classified. More than 60 % of cases of blindness among infants are caused by inherited eye diseases such as congenital (present at birth) cataracts, congenital glaucoma, retinal degeneration, optic atrophy and eye malformations.
Our scientific data will provide you with an understanding of the epidemiology as well as the mutation types identified in the most prominent ophthalmological diseases diagnosed at CENTOGENE: Macular dystrophy, Stargardt disease, Night blindness, and Stickler syndrome.
Download our brochure here.
News on genes & panels
NGS panel analyses
CENTOGENE's NGS panel composition always reflects the clinical relevance to the specific disease phenotype. All of our NGS panels are processed with a standardized quality scheme and internal controls.
New NGS panel
Extended NGS panels
- Atypical hemolytic uremic syndrome panel (ADAMTS13, C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, DGKE, THBD)
- Bardet Biedl panel (ALMS1, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CCDC28B, CEP290, LZTFL1, MKKS, MKS1, SDCCAG8, TRIM32, TTC8, WDPCP)
- Cardiomyopathy dilated panel (ABCC9, ACTC1, ACTN2, BAG3, CSRP3, DES, DMD, DSG2, EYA4, FKTN, GATAD1, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, NEXN, PLN, PSEN1, MT-ND1, MT-ND5, MT-ND6, MT-TD, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TQ, MT-TS1, MT-TS2, PSEN2, RBM20, SCN5A, SDHA, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL)
- Cone-rod and cone dystrophy panel (ABCA4, ADAM9, AIPL1, BEST1, C8ORF37, CABP4, CACNA1F, CACNA2D4, CDHR1, CERKL, CNGB3, CNNM4, CRX, GUCA1A, GUCY2D, KCNV2, PDE6C, PDE6H, PITPNM3, PROM1, PRPH2, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RPGR, RPGRIP1, SEMA4A, UNC119)
- Dementia panel (APOE, APP, C9orf72, CHMP2B, CSF1R, FUS, GRN, MAPT, PRNP, PSEN1, PSEN2, SORL1, TARDBP, TREM2, UBE3A, VCP)
- Frontotemporal dementia panel (CHMP2B, GRN, VCP, FUS, TARDBP, C9orf72 , MAPT, SIGMAR1, UBQLN2)
- Leukodystrophy and peroxisome biogenesis disorders panel (ABCD1, AIMP1, ARSA, ASPA, BEST1, CSF1R, CYP27A1, DARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FA2H, FAM126A, GALC, GFAP, GJC2, HEPACAM, HSPD1, MLC1, NDUFV1, NOTCH3, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PLP1, POLR3A, POLR3B, PSAP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SDHA, SLC16A2, SOX10, SUMF1, TREM2, TREX1, HSD17B4, LMNB1, PEX11B, PHYH, SCP2, SDHAF1, TYROBP)
- Microphthalmia panel (ALDH1A3, BCOR, BMP4, HCCS, MITF, OTX2, RAX, SIX6, SOX2, STRA6, TENM1, TENM3, VSX2)
- Myofibrillar myopathy panel (BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, LDB3, MYOT)
- Parkinsons disease panel (SNCA, LRRK2, VPS35, PARK2, PINK1, PARK7, ATP13A2, PLA2G6, FBXO7, DNAJC6)
- Retinitis pigmentosa panel, autosomal dominant (ABCA4, BEST1, CA4, CRX, CLRN1, FSCN2, GUCA1B, IMPDH1, KLHL7, NR2E3, NRL, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, RDH12, RGR, RHO, ROM1, RP1, RP2, RP9, RPE65, RPGR, SEMA4A, SNRNP200, TOPORS)
- SCA panel (ATXN1, ATXN2, ATXN3, ATXN7, ATXN8, ATXN10, BEAN1, ATN1, CACNA1A, NOP56, PPP2R2B, TBP, AFG3L2, DNMT1, FGF14, IFRD1, ITPR1, KCNC3, KCND3, PDYN, PRKCG, SPTBN2, TGM6, TTBK2, VAMP1)
- Spastic paraplegia panel, autosomal recessive (AP4M1, CYP2U1, CYP7B1, FA2H, GJC2, KIF1A, PNPLA6, SPG11, SPG20, SPG21, SPG7, ZFYVE26)
Single gene analyses
Please have a deeper look at our CentoBrief April 2014 to see all of our recently added single gene tests, e.g. for
- Metabolic diseases (e.g. Hypomagnesemia type 4, Transaldolase deficiency)
- Neurological diseases (e.g. Amyloidisis finnish type, Mental retardation autosominal dominant types 5, 13, 18, Mental retardation autosomal recessive types 3, 39, Spinal muscular atrophy type III)
- Bone, skin and immune diseases (e.g. Achondrogenesis types IA, IB, Psoriasis type 11, Winchester syndrome)
- Liver, kidney and endocrinological diseases (e.g. Obesity, Renal hypoplasia isolated)
- Tumoral and haematological diseases (e.g. Prostate cancer, Leukemia/Lymphoma B-cell type, Acute promyelitic leukemia)
- Malformation and retardation syndromes (e.g. Laron syndrome, Acromesomelic dysplasia, Maroteaux type)
Prenatal whole exome sequencing
CENTOGENE has clarified a complex bone disease with the detection of a homozygous mutation for a prenatal sample, based on whole exome sequencing (WES), within 7 days. This short turnaround time for WES was the result of highly standardized lab processes, maintaining quality on all levels of the workflow, as well as streamlined bioinformatics. As a prerequisite for analyzing WES prenatal samples, clinical information and samples of the parents are absolutely mandatory. Only this increases a full understanding of the results and a comprehensive medical report.
Genetic insights into specific metabolic diseases
For the improvement of the early diagnosis of rare diseases, a broad panel of different technologies is mandatory. CENTOGENE has developed highly sophisticated combinations of enzyme and genetic tests accompanied with modern and cutting-edge biomarker assays available for a broad portfolio of lysosomal storage disorders (LSD), also described in scientific publications referring to biomarker in Gaucher disease (Lukas et al.; PLoS One 2013) or related to 'Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease' (Lukas et al.; PLoS Genet 2013).
Data from several studies including more than 900,000 samples from routine and international screening programs with nearly 7,000 diagnosed male and female patients with different LSDs demonstrate a precise epidemiological classification combined with a capacious sample size to adequately power the discovery of an effect or definition of phenotypes.
We are pleased to present actual numbers and results (download brochure here) from selected screening programs, empowering results that have a significant impact on patients' treatment.
International conference participation
CENTOGENE will attend in 2014 major conferences on rare diseases and genetic testing, such as the European Conference on Rare Diseases and Orphan Products (Berlin, May 8-10, 2014) or the European Conference of Human Genetics (Milan, May 31-June 3, 2014). We are pleased to welcome you at our booth to get a personal update on our services or to discuss custom-tailored testing in a personal meeting with one of our experts.
See the whole conference list (as of April 2014) here.
If you have any questions or comments, please do not hesitate to contact us.
Senior Director Strategic Communication