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

Lab Method

  • Next-Gen Sequencing

Test Code

J511

CPT Codes*

81403x2, 81404x2, 81405x3, 81406x4, 81407x1, 81408x2, 81479x1, 81175x1, 81216x1, 81259x1, 81302x1, 81307x1

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.

**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.