Weather alert: Due to Hurricane Ian, there may be delays in receiving and processing samples. You can still place orders on our website, which we will fulfill as soon as possible. Please reach out to clientservices@sema4.com if you have any questions.

Microcephaly Xpanded Panel

New York
Approved


Genes

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, ARSL (ARSE), ARVCF, ARX, ASNS, ASPM, ASXL1, ASXL3, ATP1A3, ATP2B3, ATP5A1, ATP5E, ATP6V0A2, ATP7A, ATP8A2, ATPAF1, ATPAF2, ATR, ATRIP, ATRX, AUH, AUTS2, B3GALNT2, B3GALTL, 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, 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, KIAA1279, KIAA2022 (NEXMIF), KIF11, KIF14, KIF1A, KIF23, KIF2A, KIF5C, KIRREL3, KIT, KITLG, KMT2A (MLL), KMT2D, KNL1, KRAS, L1CAM, LARGE, LARP7, LARS, LARS2, LAS1L, LEMD3, LETM1, LFNG, LIAS, LIG4, LIMK1, LINS, 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

Conditions

  • Microcephaly
  • Seckel syndrome

Clinical Utility

  • 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

Lab Method

  • Next-Gen Sequencing

Test Code

J511

CPT Codes*

81404x3, 81405x3, 81406x1, 81407x2, 81408x2

ABN Required

No

Turnaround Time**

6 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.