Update: Expanded Gene List for Diagnostic Panel Customization
We are excited to announce an important update — our gene list for diagnostic panel customization has been expanded by 14,000 genes. In total, more than 18,000 genes are now available for diagnostic panel customization. This expansion allows you to select the most comprehensive testing solutions for your patients.
In addition to adding new genes for customization and transitioning our analysis technology assay from Clinical Exome Sequencing to Whole Exome Sequencing, we refined our existing single gene offering and list of customizable genes to streamline our workflows and maintain our consistent quality and reliability. These genes remain in applicable diagnostic panels. The following changes have been implemented:
- * 74 genes were removed from the customization list but will remain in already existing panels if indicated. If any of these removed genes were part of your saved Flex panel, note that the affected genes were removed. The diagnostic panels that include these genes will not be changed and the genes will remain on those panels.
- ** 90 single-gene tests were removed from our portfolio and can’t be ordered as stand-alone tests no longer. These genes will remain in applicable diagnostic panels.
- Clinical report Appendix 5 was updated. Please see an example for a new version here.
* The 74 removed genes from customization:
ABCB1, ABCG2, AFF2, ARX, BCHE, BCR, BDNF, BEAN1, C2, COMT, CORO1A, CSTB, CYP1A2, CYP21A2, CYP2B6, CYP2C19, CYP2C8, CYP2C9, CYP2D6, CYP3A4, CYP3A5, CYP4F2, DAB1, DBH, DIP2B, DNAH11, DPYD, DRD2, EIF4A3, F8, G6PD, GRIK4, GRIN2B, HBA1, HBA2, HLA-A, HLA-B, HOXA13, HTR2A, HYDIN, IFNL3, MTHFR, MUC1, NCF1, NEB, NUDT15, OCLN, OTOA, PIK3CA, PIK3CD, PKD1, PMS2, PON1, PRDM12, PRNP, RAPGEF2, RPL21, RUNX2, SAMD12, SBDS, SHOX, SLCO1B1, SMN1, SMN2, SOX3, SSTR5, STRC, TNRC6A, TPMT, UGT1A1, VKORC1, XYLT1, ZIC2, ZIC3
** The 90 removed single-genes:
ADGRE2, ADGRG2, AFF2, ANKRD26, APPL1, ARR3, C15ORF41, CCDC174, CCNK, CFHR3, CNGB3, CNKSR2, COX7B, CPT1C, CSTB, CWC27, CXORF56, DNAL1, DPM1, EDA, FBXO25, FRMPD4, FTSJ1, GCH1, GK, GOSR2, HBA1, HELLS, HPRT1, IFT74, IFT88, IL7, INF2, KCNT2, KIF2A, KRT6C, LHB, LMBRD1, LYRM7, MAFA, MAK, MARK3, MARVELD2, MEIOB, MGP, MUC1, NIPA1, NSDHL, NUP155, OFD1, PADI6, PAFAH1B1, PDHA1, PI4KA, PIH1D3, PLEKHM1, PLOD2, PPA2, PRIMA1, PRKAG2, PRNP, RARS2, RASA2, RDX, RHCE, RPL21, RPS6KA3, SETD1B, SH2D1A, SOX3, SRP72, SSR4, TBK1, TCF4, THOC2, TMEM67, TMPRSS15, TRAPPC2, TRDN, TSR2, UBE2A, UFM1, WAS, XIAP, XIST, XPNPEP2, ZIC2, ZIC3, ZNF674
Questions?
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Tel: +358 40 2511 372