Specialized NGS Panels for the Early and Fast Diagnosis of Critically ill Newborns & Children under 24 Months
CENTOGENE now offers a specially designed NGS panel that includes 806 genes associated with more than 100 conditions specifically for the genetic testing of newborns and children under 24 months admitted to the intensive care units of hospitals (ICU).
What are the advantages of CentoICU™?
- Shortest possible TAT (< 7 days for CentoICU™ Platinum Plus)
- 2 options for delivery of results are available:
- CentoICU™ Platinum Plus :
TAT < 7 days
- CentoICU™ Platinum :
TAT < 15 days
- ~99% of the coding regions within the 806 targeted genes are covered using Next Generation Sequencing (NGS)
- includes sequencing of the 806 targeted genes associated with more than 100 diseases to allow a definite diagnosis of even very rare diseases
- treatment and prognosis defining diagnosis for critical and rare conditions
- co-analysis of copy number variations possible using package with CENTOGENE’s CGH array
- ≥ 1 μg DNA or
- ≥ 1 ml EDTA Blood or
- ≥ 1 CentoCard® (10 dried blood spots)
Results are analyzed and interpreted by CENTOGENE´s highly trained laboratory and medical
professionals. The clinical report provides information on any pathogenic or likely pathogenic variants and their clinical significance. The panel covers all primary and secondary ACMG recommended conditions. In addition, variants of unknown significance (VUS), where a change in the DNA is detected but its
association with a disease is not yet proven, may be detected, whereby testing of other family members might also be considered. VUS are only reported if all in silico programs indicate pathogenicity or if they are found in a compound heterozygous state with a pathogenic or likely pathogenic variant. In addition, a complete report will be issued if there is a high suspicion of certain candidate genes by the customer or by the reporting team according to the clinical information provided.
When to recommend CentoICU™?
CentoICU™ is designed to diagnose genetic conditions that become present in the newborn or early
childhood period. Many of these have overlapping phenotypes and diagnosis may have immediate
implications on the treatment of newborns and children. It allows clinicians to utilize one test to provide an accurate assessment for 806 newborn-related genes and associated genetic diseases using dried blood spots and it provides fast delivery of the results in less than 7 (15) days.
CentoICU™ is indicated for newborns and children under 24 months admitted to the ICU and presenting with unclear symptomatology which can be part of a genetic condition, i.e.:
- Bleeding Dyathesis
- Blood Abnormalities (Anemia)
- Bone Fragility
- Failure to Thrive
- Heart Abnormality/Arrhythmia
- Ichthyosis/Epidermolysis Bullosa
- Metabolic Abnormalities*
- Abnormal Newborn Screening Results**
- Respiratory Failure
- Skeletal Abnormalities/Craniosynostosis
- Skin Fragility
- Unclear Seizures
*) Abnormal Acylcarnitine Profile, Amino Acidemia/Urea, Hyperbilirubinemia, Hyper-/Hypoinsulinism, Persistent Hypoglycemia, Organic Acidemia/Urea
**) CentoICU includes genes to cover all ACMG core panel phenotypes for newborn screening except hearing loss
What genes are included in CentoICU™?
CentoICUTM is designed for analysis of 806 genes and more than 100 associated conditions/phenotypes. The list of included genes was developed by our expert medical team based on several selection criteria, i.e.:
- Early onset
- Severe disease
- ICU related symptomatology
- Diseases/syndromes of differential diagnostic value
The following table indicates the distribution of genes depending on HPO terms in 14 categories:
|Category||Number of Genes+||% of Genes+|
|Newborn Screening ++||25||3,1|
|Skeletal and Malformation||498||61,8|
+) Due to overlapping phenotypes, particular genes are listed in more than one category.
++) Covering all core panel phenotypes as recommended by ACMG for newborn screening except hearing loss.
Genes included in CentoICU™: AARS, AARS2, AASS, ABAT, ABCA12, ABCA3, ABCB11, ABCC8, ABCD1, ABCD3, ABCD4, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACOX1, ACSF3, ACTA1, ADA, ADAMTS13, ADAR, ADK, ADNP, ADSL, AGK, AGL, AGRN, AGXT, AHCY, AICDA, AIFM1, AIMP1, AKAP9, AKR1D1, ALAD, ALAS2, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG14, ALG2, ALG3, ALG6, ALMS1, ALOX12B, ALOXE3, ALPL, ALS2, AMACR, AMT, ANK1, ANKRD26, ANKS6, ANTXR1, AP2S1, AP4B1, AP4E1, AP4M1, AP4S1, APOB, ARG1, ARL6, ARSA, ARSB, ARX, ASL, ASNS, ASPA, ASPM, ASS1, ATP1A3, ATP6V1B1, ATP7A, ATP7B, ATP8B1, ATPAF2, ATR, ATRX, AUH, BCAP31, BCKDHA, BCKDHB, BCKDK, BCS1L, BDNF, BICD2, BIN1, BLNK, BOLA3, BRAF, BRAT1, BRCA2, BSND, BTD, BTK, C10orf2, C12orf65, C21orf59, CA12, CACNA1C, CACNB2, CALM1, CAMTA1, CASK, CASR, CAST, CAV3, CBS, CCDC103, CCDC114, CCDC78, CD19, CD247, CD320, CD3D, CD3E, CD3G, CD40, CD40LG, CD59, CD79A, CD79B, CD81, CD96, CDAN1, CDK5RAP2, CDKL5, CDKN1C, CENPJ, CEP152, CEP290, CERS3, CFH, CFHR3, CFL2, CFTR, CHAT, CHD7, CHKB, CHM, CHRNA1, CHRNB1, CHRND, CHRNE, CIDEC, CLCNKA, CLCNKB, CLPB, CNTN1, COA5, COL11A1, COL17A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A2, COL6A1, COL6A2, COL6A3, COL7A1, COLQ, COMP, COQ2, COQ9, CORO1A, COX10, COX15, COX20, COX6B1, CPS1, CPT1A, CPT2, CR2, CRTAP, CTNS, CTPS1, CTSA, CTSD, CUL4B, CXCR4, CYP11B1, CYP11B2, CYP17A1, CYP4F22, CYP7B1, D2HGDH, DBT, DCLRE1C, DDC, DDOST, DDR2, DECR1, DEPDC5, DES, DGUOK, DHCR24, DHCR7, DIAPH1, DLAT, DLD, DMD, DNA2, DNAH11, DNAH5, DNAI1, DNAI2, DNAJC19, DNM2, DOCK7, DOCK8, DOK7, DOLK, DPAGT1, DPM2, DPYD, DRC1, DSP, DST, DUOX2, DUOXA2, DYSF, EDN3, EEF1A2, EGR2, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELAC2, ELANE, ENPP1, EPB42, EPCAM, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOSC3, EYA1, EYA4, F10, F11, F13A1, F2, F5, F7, F8, F9, FADD, FAH, FANCA, FANCB, FANCC, FANCD2, FANCL, FARS2, FASTKD2, FBN1, FBP1, FBXL4, FGA, FGB, FGFR2, FGFR3, FGG, FH, FIG4, FKBP14, FKRP, FKTN, FOXC1, FOXG1, FOXP3, FOXRED1, FRAS1, FUCA1, G6PC2, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GAN, GARS, GATA1, GATM, GBA, GBE1, GCDH, GCH1, GCK, GCSH, GDAP1, GFAP, GFM1, GFPT1, GJA1, GJB2, GJB4, GK, GLA, GLB1, GLDC, GLIS3, GLRA1, GLRB, GLUD1, GLYCTK, GMPPB, GNAS, GNE, GNMT, GNPAT, GNPTAB, GP1BA, GP1BB, GP9, GPC3, GPHN, GPSM2, GSS, GUSB, GYS2, HADH, HADHA, HADHB, HAMP, HAX1, HBA1, HBA2, HBB, HESX1, HEXA, HEXB, HGD, HGF, HIBCH, HLCS, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HPD, HPGD, HRAS, HSD17B10, HSD17B4, HSD3B2, HSD3B7, HSPA9, HSPD1, HSPG2, ICOS, IDUA, IER3IP1, IFIH1, IFT172, IGF1, IGF1R, IGHMBP2, IGLL1, IKBKB, IL12RB1, IL2RA, IL2RG, IL7R, INS, INSR, INVS, IRF8, ISPD, ITGA2B, ITGA6, ITGA7, ITGB3, ITGB4, IVD, JAG1, JAGN1, JAK3, JAM3, KAT6A, KAT6B, KBTBD13, KCNE1, KCNH1, KCNH2, KCNJ10, KCNJ11, KCNQ1, KCNQ2, KCNQ3, KCNT1, KCTD7, KIF1B, KLF1, KLHL40, KLHL41, KRAS, KRT5, LAMA2, LAMA3, LAMB3, LAMC2, LAMP2, LAMTOR2, LARS2, LAS1L, LCT, LHX3, LHX4, LIAS, LIG4, LIPA, LIPN, LIPT1, LMBRD1, LMNA, LPIN1, LRBA, LRPPRC, LRRC8A, MAGEL2, MAGT1, MALT1, MAN2B1, MANBA, MAP2K1, MAP2K2, MASTL, MAT1A, MCCC1, MCCC2, MCEE, MCM4, MCPH1, MECP2, MED12, MEF2C, MEGF10, MFN2, MFSD8, MITF, MKKS, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MPC1, MPI, MPL, MPV17, MPZ, MRPL3, MRPL44, MSMO1, MTHFR, MTM1, MTMR14, MTO1, MTR, MTRR, MUSK, MUT, MVK, MYCN, MYH9, NAA10, NAGA, NAGS, NALCN, NARS2, NBAS, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFV1, NDUFV2, NEB, NEFL, NEU1, NEUROG3, NEXN, NFKB2, NFU1, NGF, NHEJ1, NIPAL4, NIPBL, NKX2-1, NKX2-5, NLRC4, NLRP3, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NR0B1, NR3C2, NRAS, NSD1, NSDHL, NUBPL, OAT, OCLN, OCRL, OPA3, OPHN1, OPLAH, ORC1, ORC4, OTC, OXCT1, PAH, PAX2, PAX3, PAX6, PAX8, PC, PCBD1, PCCA, PCCB, PCDH19, PCNT, PDCD10, PDE10A, PDHA1, PDHB, PDHX, PDP1, PDSS2, PDX1, PEPD, PEX1, PEX10, PEX13, PEX19, PEX7, PGAP1, PHGDH, PHOX2B, PIGA, PIGN, PIGT, PIGV, PIK3CD, PKD2, PKHD1, PKLR, PLCB4, PLEC, PLOD1, PLP1, PMM2, PMP22, PNKP, PNP, PNPLA1, PNPO, PNPT1, POGZ, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POU1F1, PPT1, PRDM16, PRKAG2, PRKDC, PROC, PRODH, PROP1, PROS1, PRPS1, PRRT2, PSAP, PSAT1, PSPH, PTPN11, PTPRC, PTRF, PTRH2, PTS, PURA, QDPR, RAB18, RAB3GAP1, RAB3GAP2, RAC2, RAF1, RAG1, RAG2, RANBP2, RAPSN, RARS2, RB1, RBBP8, RBM8A, RET, RFT1, RFX5, RFX6, RIT1, RMND1, RMRP, RNASEH2C, RNASET2, RNU4ATAC, RORC, RPS19, RRM2B, RYR1, SALL1, SATB2, SBDS, SCN1A, SCN2A, SCN4A, SCN5A, SCN9A, SCO1, SCO2, SDHA, SDHAF1, SEPN1, SERAC1, SERPINC1, SERPING1, SFTPB, SFTPC, SFTPD, SHOC2, SIL1, SIX3, SIX5, SKI, SLC12A6, SLC16A1, SLC16A2, SLC17A5, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC26A2, SLC26A3, SLC2A1, SLC30A2, SLC33A1, SLC37A4, SLC3A1, SLC46A1, SLC4A1, SLC52A1, SLC52A3, SLC5A1, SLC5A5, SLC6A1, SLC6A3, SLC7A7, SLC7A9, SLCO1B1, SLCO1B3, SMPD1, SNAI2, SNX10, SOS1, SOX10, SOX2, SOX9, SPAST, SPEG, SPINK5, SPINT2, SPR, SPRED1, SPTA1, SPTAN1, SPTB, SRD5A3, ST3GAL3, ST3GAL5, STAR, STAT1, STAT3, STIL, STIM1, STS, STT3B, STXBP1, SUCLA2, SUCLG1, SUMF1, SUOX, SYNE1, TACO1, TAT, TAZ, TBC1D24, TBCE, TBX19, TBX5, TCAP, TCN2, TFR2, TG, TGM1, TH, THRA, TJP2, TMCO1, TMEM165, TMEM173, TMEM5, TMEM70, TNFRSF13B, TNFRSF13C, TNFSF4, TNNT1, TP63, TPM2, TPM3, TPO, TPP1, TRIP11, TRMU, TRPV4, TSC1, TSC2, TSFM, TSHB, TSHR, TSPYL1, TTC7A, TTN, TUBA8, TUBB2A, UBA1, UGT1A1, UMPS, UNG, UPB1, UQCRC2, UROD, UROS, WAS, WDPCP, WDR62, WDR73, WFS1, WNK1, WT1, ZAP70, ZEB2, ZFP57, ZNF423.