Dear ###USER_title1### ###USER_last_name###,
Our sincere thanks that you have chosen Centogene for performing your genetic analyses and for the great collaboration throughout the year.
We wish you the best for a happy holiday season.
We are always striving to improve our quality and services. We recognize the importance of our customers' needs and encourage your comments and suggestions. Therefore we are proud to announce our successful CLIA registration, indicating that you may rest assured that we are committed to safeguarding your patients’ care and achieving the highest standards in laboratory medicine.
Our annual report of diagnosed cases also proves the enduring and valuable expertise in molecular genetic diagnostics we have assembled over the years.
News on genes and panels
Single gene establishment
Centogene has established new genes during the last 4 weeks, e.g. AP4M1 for determining SPG50, MOCS1/2 for Molybdenum cofactor deficiency type A/B or CNGA3/CNGB3/GNAT2 for diagnosing correctly Achromatopsia type 2, 3 and 4 to further endorse Centogene’s ophthalmological expertise.
NGS panel establishment
Among Centogene´s panels, Leigh syndrome covers 66 genes and include both nuclear and mitochondrial genes. Despite that, a colon cancer panel is established to offer maximal help to all patients affected with rare types of tumors and malformations related to malignant proliferation as well as further panels:
- Congenital myasthenic syndrome (CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DOK7, MUSK)
- Colon cancer (APC, BMPR1A, ENG, EPCAM, FLCN, MLH1, MSH2, MSH3, MSH6, MUTYH, PMS1, PMS2, PTEN, SMAD4, STK11)
- Leigh syndrome and mitochondrial encephalopathy (ACAD9, ADCK3, AIFM1, APTX, ATPAF2, BCS1L, C10ORF2, C8ORF38, COQ2, COQ9, COX10, COX15, COX6B1, DARS2, DGUOK, DLAT, DLD, DNM1L, ETFDH, ETHE1, FASTKD2, FH, FOXRED1, GFER, GFM1, LRPPRC, MPV17, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFA13, NDUFAF1, NDUFAF2, NDUFAF4, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, RARS2, SCO1, SCO2, SDHAF1, SUCLA2, SUCLG1, SURF1, TACO1, TK2, TMEM70, TSFM, TTC19, TUFM, TYMP)
- Lissencephaly (ARX, DCX, PAFAH1B1, RELN, TUBA1A, YWHAE)
- Maple syrup urine disease (BCKDHA, BCKDHB, DBT, DLD)
- Microcephaly panel (AKT3, AP4M1, ASPM, CASK, CDK5RAP2, CENPJ, CEP135, CEP152, CEP63, DNM1L, EFTUD2, IER3IP1, KIF11, MCPH1, MRE11A, MSMO1, NDE1, NHEJ1, NR2E1, PAFAH1B1, PNKP, POMT1, SLC25A19, STIL, TUBB2B, TUBGCP6, WDR62)
- Mucopolysaccharidosis (IDUA, IDS, SGSH, NAGLU, HGSNAT, GNS, GALNS, ARSB, GUSB, HYAL1, LDB3, MYOT)
- Myofibrillar myopathy (BAG3, CRYAB, DES, FLNC, LDB3, MYOT)
- Thrombocytopenia (ADAMTS13, GATA1, GP1BA, GP1BB, GP9, MASTL, MYH9, MPL, RUNX1, WAS)
- Urea cycle disorder (ARG1, ASS1, CPS1, NAGS, OTC)
If you have any questions or comments, please do not hesitate to contact us.
Senior Director Strategic Communication