Seckel syndrome

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AAAS, AARS, ABCC8, ABCD1, ACADSB, ACD, ACE, ACO2, ACSL4, ACTB, ACTG1, ACTG2, ADAR, ADAT3, ADD3, ADNP, ADSL, AGA, AGGF1, AGMO, AGT, AGTR1, AGTR2, AIMP1, AKT3, ALDH18A1, ALDH3A2, ALDH6A1, ALG1, ALG11, ALG13, ALG3, ALG9, ALX1, ALX4, AMPD2, ANK1, ANKLE2, ANKRD11, AP3B1, AP4B1, AP4E1, AP4M1, AP4S1, APP, ARCN1, ARFGEF2, ARHGAP31, ARHGEF6, ARID1A, ARID1B, ARL14EP, ARNT2, ARSE, ARVCF, ARX, ASNS, ASPM, ASXL1, ASXL3, ATP1A3, ATP2B3, ATP5A1, ATP5E, ATP6V0A2, ATP7A, ATP8A2, ATPAF1, ATPAF2, ATR, ATRIP, ATRX, AUH, AUTS2, B3GALNT2, B3GLCT, B4GAT1, B9D1, B9D2, BAZ1B, BBOX1, BCAP31, BCKDK, BCOR, BCR, BCS1L, BDNF, BLM, BMP15, BMP4, BMPR1A, BRAT1, BRCA2, BRF1, BRIP1, BTG2, BUB1, BUB1B, BUB3, C10orf2, C2CD3, CACNA1H, CACNG2, CANT1, CARS2, CASC5, CASK, CC2D1A, CC2D2A, CCDC88A, CD96, CDC6, CDH15, CDH4, CDK11A, CDK5, CDK5RAP2, CDK6, CDKL5, CDON, CDT1, CENPE, CENPF, CENPJ, CEP135, CEP152, CEP290, CEP57, CEP63, CHAMP1, CHD2, CHD7, CHKB, CHL1, CHMP1A, CHN1, CHRNA1, CHRNA7, CHRND, CHRNG, CHUK, CIT, CKAP2L, CLCN4, CLIP1, CLIP2, CLP1, CLPB, CLPP, CNNM2, CNTN4, COA5, COA6, COG1, COG2, COG4, COG6, COL25A1, COL4A1, COL4A3BP, COLEC11, COMT, COQ9, COX15, COX7B, CPLX1, CPT2, CRADD, CRBN, CREBBP, CRIPT, CRKL, CSNK2A1, CSPP1, CTBP1, CTC1, CTCF, CTNNB1, CTNND2, CTSD, CUL4B, CYB5R3, DAG1, DARS, DCPS, DCX, DDB2, DDX11, DDX3X, DEAF1, DGCR2, DGCR6, DGCR8, DGUOK, DHCR24, DHCR7, DHFR, DHTKD1, DHX37, DIAPH1, DISP1, DKC1, DLAT, DLD, DLG3, DLL1, DLL3, DLL4, DMD, DNA2, DNM1, DNM1L, DOCK6, DOCK8, DOLK, DPAGT1, DPM1, DPM2, DPP6, DPYD, DSTYK, DUSP22, DYM, DYNC1H1, DYRK1A, EDC3, EEF1A2, EFEMP2, EFNB1, EFTUD2, EGF, EHMT1, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELAC2, ELN, ELOVL4, EMG1, EML1, ENTPD1, EOGT, EOMES, EP300, EPB41L1, EPG5, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC6L2, ERCC8, ERMARD, ESCO2, ETFA, EXOSC3, EXOSC8, EXT1, FAM20C, FAM222A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAR1, FARS2, FBLN5, FBN1, FBXL4, FBXO31, FGF3, FGF8, FGFR1, FGFR3, FGFRL1, FH, FIG4, FKRP, FKTN, FLII, FLNA, FMN2, FOXG1, FOXH1, FRAS1, FREM1, FREM2, FRMD4A, FSHR, FTO, FTSJ1, G6PC3, GABRA1, GABRB2, GABRD, GABRG2, GAD1, GALC, GAS1, GATA1, GATA4, GATA6, GBA, GDI1, GEMIN4, GFM1, GJA1, GJA5, GJA8, GJB3, GJB4, GLG1, GLI2, GLYCTK, GMPPA, GMPPB, GNAO1, GNPAT, GOLGA2, GORAB, GP1BB, GPT2, GRIK2, GRIN1, GRIN2B, GRIP1, GTF2H5, GTF2I, GTF2IRD1, HARS2, HBA1, HBA2, HCCS, HCFC1, HCN1, HDAC4, HDAC8, HELZ, HES7, HHAT, HIC1, HIRA, HMGA2, HMGB1, HMGB3, HNRNPK, HSD17B4, HSPD1, HSPG2, HUWE1, IBA57, IER3IP1, IFIH1, IFT140, IFT172, IGF1, IGF1R, IGFBP4, IKBKG, IL1RAPL1, INA, INO80, INSR, IQCB1, IQSEC2, ISPD, ITGA3, ITGB6, JAM3, JMJD1C, KANK1, KANSL1, KARS, KAT6A, KAT6B, KATNB1, KCNAB2, KCNB1, KCNJ11, KCNJ2, KCNJ5, KCNJ6, KCNQ2, KCNT1, KCTD13, KCTD7, KDM5C, KDM6A, KIAA1033, KIAA2022, KIF11, KIF14, KIF1A, KIF1BP, KIF23, KIF2A, KIF5C, KIRREL3, KIT, KITLG, KMT2A, KMT2D, KRAS, L1CAM, LARGE, LARP7, LARS, LARS2, LAS1L, LEMD3, LETM1, LFNG, LIAS, LIG4, LIMK1, LINS1, LMNA, LRP5, LTC4S, MAD2L2, MAFB, MAGI2, MAGT1, MAN1B1, MANF, MAOA, MAPK1, MAPRE2, MASP1, MATN4, MBD5, MBTPS2, MCM4, MCOLN1, MCPH1, MCTP2, MECP2, MED12, MED13L, MED17, MED23, MED25, MEF2C, MEIS2, MESP2, METTL23, MFSD2A, MGAT2, MGME1, MID2, MITF, MKS1, MMACHC, MOCS1, MOCS2, MPC1, MPDU1, MPL, MPLKIP, MRE11A, MRPS22, MSMO1, MTFMT, MTHFR, MTSS1L, MVK, MXRA8, MYCN, MYH10, MYH3, MYO18B, NAA10, NADK2, NALCN, NANS, NARS2, NAT8L, NBN, NCAPG2, NDE1, NDP, NDST1, NDUFB11, NECAP1, NEK9, NELFA, NF1, NGLY1, NHEJ1, NHP2, NIN, NIPBL, NLGN1, NODAL, NOP10, NOTCH1, NPHP1, NPHP3, NPHP4, NR2E1, NR5A1, NRG1, NRXN1, NSD1, NSDHL, NSUN2, NTNG1, NUP107, OCLN, OFD1, OGDHL, ORC1, ORC4, ORC6, PAFAH1B1, PAH, PAK3, PALB2, PARN, PAX3, PAX6, PCDH12, PCDH15, PCDH19, PCDHB4, PCLO, PCNA, PCNT, PDGFB, PDGFRB, PDHA1, PDHX, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP2, PGAP3, PHC1, PHF6, PHGDH, PIAS4, PIEZO2, PIGA, PIGL, PIGN, PIGO, PIGQ, PIGV, PIGW, PIGY, PIK3CB, PLCB1, PLEKHG2, PLK4, PLP1, PMM2, PNKP, PNPO, PNPT1, POC1A, POGZ, POLG, POLR1A, POLR1C, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POR, PORCN, PPP1R15B, PPP2R1A, PPT1, PQBP1, PRDM16, PRKD1, PRKDC, PRSS12, PRUNE, PSAT1, PSMC3IP, PSPH, PTCH1, PTCHD1, PTDSS1, PTF1A, PTPN11, PTPRT, PTRH2, PTS, PUF60, PUS1, PYCR1, PYCR2, QARS, QDPR, RAB18, RAB33B, RAB39B, RAB3GAP1, RAB3GAP2, RAD21, RAD50, RAD51, RAD51C, RAI1, RAP1A, RAP1B, RAPSN, RARS, RARS2, RB1, RBBP8, RBM28, RBPJ, RECQL4, RELN, REN, RERE, RFC2, RFT1, RIPK4, RIPPLY2, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF168, RPGRIP1, RPGRIP1L, RPL10, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS28, RPS29, RPS6KA3, RPS7, RREB1, RRM2B, RSPRY1, RTEL1, RTTN, SALL1, SAMD9L, SAMHD1, SASS6, SATB2, SBF1, SC5D, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SCO1, SCO2, SDCCAG8, SEC24C, SEMA3E, SEMA5A, SEPSECS, SETBP1, SF3B4, SGCA, SGCE, SHANK2, SHANK3, SHH, SIK1, SIL1, SIM1, SIN3A, SIX3, SIX6, SKI, SLC12A5, SLC12A6, SLC13A5, SLC16A2, SLC18A2, SLC19A3, SLC1A4, SLC20A2, SLC25A1, SLC25A19, SLC25A22, SLC2A1, SLC35A2, SLC35A3, SLC35C1, SLC35F5, SLC6A17, SLC6A8, SLC9A6, SLX4, SMAD4, SMARCA1, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SNAI2, SNAP29, SNRPB, SOX10, SOX11, SOX2, SOX3, SP110, SPATA5, SPDL1, SPG20, SPOCK1, SPR, SPTAN1, SSR4, ST3GAL3, ST3GAL5, STAMBP, STIL, STT3A, STT3B, STXBP1, SUCLA2, SUMF1, SV2A, SYNE1, SYNGAP1, SYP, TAF2, TAT, TBC1D20, TBC1D24, TBCD, TBCE, TBL1XR1, TBL2, TBX1, TBX2, TBX4, TBX6, TCF12, TCF4, TCTN2, TCTN3, TDGF1, TECPR2, TECR, TERT, TFAP2A, TGFBR2, TGIF1, THOC2, THOC6, THPO, TINF2, TMCO1, TMEM165, TMEM216, TMEM231, TMEM5, TMEM67, TMEM70, TNN, TP63, TRAF3IP1, TRAIP, TRAPPC11, TRAPPC9, TREX1, TRMT10A, TRNT1, TRPS1, TSEN15, TSEN2, TSEN34, TSEN54, TSPAN7, TSR2, TTC1, TTI1, TTI2, TUBA1A, TUBA3E, TUBA8, TUBB, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP4, TUBGCP6, TUFM, TUSC3, TWIST1, UBE2T, UBE3A, UBE3B, UBR1, UFD1L, UNC13A, UPB1, UPF3B, USB1, USP9X, VARS, VARS2, VIPAS39, VPS13B, VPS33B, VPS53, VRK1, WDPCP, WDR19, WDR45, WDR62, WDR73, WHSC1, WRAP53, WT1, WWOX, XIRP1, XPA, XPC, XPR1, XRCC2, XRCC4, XYLT1, YARS2, YWHAE, ZBTB16, ZBTB18, ZC3H14, ZDHHC9, ZEB2, ZIC1, ZIC2, ZNF335, ZNF41, ZNF519, ZNF592, ZNF674, ZNF711, ZNF81
  • Molecular confirmation of a clinical diagnosis
  • Establish the type of microcephaly and cause in order to provide information regarding prognosis, management and recurrence risk.
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
  • Next-Gen Sequencing

Ordering

J511
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x3, 81405x3, 81406x1, 81407x2, 81408x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Ashwal et al., (2009) Neurology 73(11): 887-897 (PMID: 19752457).
  2. Kaindl et al., (2010) Progress in Neurobiology 90:363-383 (PMID: 19931588).
  3. Verloes A, Drunat S, Gressens P, et al. Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders. 2009 Sep 1 [Updated 2013 Oct 31]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): Univers
  4. Woods CG (2004) Current Opinion in Neurobiology 14:112-117 (PMID: 15018946).
  5. Abuelo, D (2007) Semin Pediatr Neurol 14:118-127 (PMID: 17980308).
  6. Faheem et al., (2015) BMC Med Genomics 8 Suppl 1:S4 (PMID: 25951892).
  7. Shanmugham et al., Trio-based whole exome sequencing (WES): an effective diagnostic tool for patients with microcephaly [abstract]. In National Society of Genetic Counselors Annual Education Conference 2016 Sept 27-Oct 1, Seattle WA