KBG Syndrome

Forms and Documents

Test Details

ADSL, ALDH5A1, ALDH7A1, ALG13, ANKRD11, ARG1, ARHGEF9, ARX, ASNS, ATP1A2, ATP1A3, ATP6AP2, ATRX, BRAT1, C12ORF57, CACNA1A, CACNA1E, CACNA1G, CASK, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, CTSF, CUL4B, DCX, DDX3X, DEPDC5, DNAJC5, DNM1, DOCK7, DYRK1A, EEF1A2, EHMT1, EPM2A, FGF12, FLNA, FOLR1, FOXG1, FRRS1L, GABBR2, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GLDC, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, HCN1, HNRNPU, IQSEC2, KANSL1, KCNA2, KCNB1, KCNC1, KCNH1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM6A, KIAA2022 (NEXMIF), LGI1, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NALCN, NGLY1, NHLRC1, NPRL3, NR2F1, NRXN1, PACS1, PAFAH1B1, PCDH19, PHGDH, PIGA, PIGG, PIGN, PIGO, PIGT, PIGV, PLCB1, PNKP, PNPO, POLG, PPP2R5D, PPT1, PRRT2, PURA, QARS, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SHANK3, SLC13A5, SLC19A3, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMC1A, SNAP25, SPATA5, SPTAN1, STX1B, STXBP1, SYNGAP1, SZT2, TBC1D24, TBL1XR1, TCF4, TPP1, TSC1, TSC2, TUBB2A, UBE3A, WDR45, WWOX
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with epilepsy
  • Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies

Ordering

523
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81405x2, 81406x4, 81407x2
Yes
Yes
For price inquiries please email zebras@genedx.com

**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.

Forms and Documents

Test Details

  • Confirmation of a clinical diagnosis
  • Carrier testing for individuals with a known familial ANKRD11 mutation
  • Prenatal diagnosis in at-risk pregnancies

Ordering

TB13
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**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.

References

  1. K.L. Skjei et al., “KBG Syndrome: Reports of Twins, Neurological Characteristics, and Delineation of Diagnostic Criteria”. Am J Med Genet, Part A Vol. 143A: 292-300 (2007).
  2. S. Sacharow et al., “Familial 16q24.3 Microdeletion Involving ANKRD11 Causes a KBG-Like Syndrome”. Am J of Med Genet Part A Vol. 158A: 547-552 (2012).
  3. M.H. Willemsen et al., “Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome”. Eur J of Human Genet Vol 18: 429-435. (2010)
  4. M. Isrie et al., “Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms”. Eur J of Hum Genet Vol 20: 131-133 (2012).
  5. E.L. Youngs et al., “ANKRD11 gene deletion in a 17-year-old male”. Clinical Dysmorphology Vol 20: 170- 171. (2011)
  6. F. Brancati et al., “KBG syndrome in a cohort of Italian patients”. Am J Med Genet Part A Vol. 131A: 144- 149 (2004).
  7. A. Sirmaci et al., “Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia”. Am J Hum Genet Vol 89: 289-294 (2011).
  8. A. Zhang et al., “Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators”. J Biol. Chem Vol. 279: 33799-33805 (2004).
  9. A. Zhang et al., “Characterization of transcriptional regulatory domains of ankyrin repeat cofactor-1”. Biochemical and Biophysical Research Communications Vol.358: 1034–1040 (2007).

Forms and Documents

Test Details

AAAS, AARS, AARS2, AASS, ABAT, ABCA5, ABCA7, ABCB7, ABCC8, ABCC9, ABCD1, ABCD3, ACAD9, ACADM, ACADS, ACADSB, ACAT1, ACMSD, ACO2, ACOT7, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ACTL6B, ACVR1, ACY1, ADAM22, ADAR, ADAT3, ADCK3, ADCK4, ADD3, ADGRG1, ADK, ADNP, ADPRHL2, ADRA2B, ADSL, AFF2, AFG3L2, AGA, AGGF1, AGK, AGTPBP1, AGTR2, AHDC1, AHI1, AHSG, AIFM1, AIMP1, AIMP2, AKT1, AKT2, AKT3, ALAD, ALDH18A1, ALDH1B1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALKBH8, ALMS1, ALPL, ALX4, AMACR, AMER1, AMPD2, AMT, ANGPTL6, ANK2, ANKH, ANKLE2, ANKRD11, ANO10, ANO3, ANTXR1, AP1S2, AP2S1, AP3B2, AP3D1, AP4B1, AP4E1, AP4M1, AP4S1, APC2, APOA1BP, APOPT1, APTX, AQP2, ARCN1, ARFGEF2, ARG1, ARHGAP31, ARHGDIA, ARHGEF15, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARID4A, ARL13B, ARL6IP6, ARMC9, ARNT2, ARSA, ARV1, ARVCF, ARX, ASAH1, ASCL1, ASH1L, ASL, ASNS, ASPA, ASPM, ASS1, ASTN1, ASTN2, ASXL1, ASXL2, ASXL3, ATAD1, ATAD3A, ATIC, ATN1, ATP13A2, ATP1A2, ATP1A3, ATP2A2, ATP2B3, ATP5A1, ATP5E, ATP6AP1, ATP6AP2, ATP6V0A2, ATP6V0C, ATP6V1A, ATP6V1B2, ATP7A, ATP8A2, ATPAF2, ATR, ATRIP, ATRX, ATXN10, AUH, AUTS2, AVPR2, B3GALNT2, B3GALTL, B4GALT1, B4GAT1, B9D1, B9D2, BAZ1B, BAZ2B, BCAP31, BCKDHA, BCKDHB, BCKDK, BCL11A, BCL11B, BCOR, BCS1L, BDNF, BMP2, BMP4, BOLA3, BPTF, BRAF, BRAT1, BRCC3, BRD4, BRPF1, BRWD3, BSCL2, BSN, BTD, BUB1B, BUB3, C10orf2, C11ORF95, C12ORF57, C12ORF65, C19ORF70, C5orf42, CA8, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1G, CACNA1H, CACNA2D1, CACNA2D2, CACNB4, CACNG2, CAD, CALM1, CAMK2A, CAMK2B, CAMKMT, CAMTA1, CARKD, CARS2, CASK, CASP10, CBL, CBS, CC2D1A, CC2D2A, CCBE1, CCDC115, CCDC141, CCDC88A, CCDC88C, CCM2, CCND2, CCR1, CD96, CDC42, CDH11, CDH15, CDK10, CDK13, CDK5, CDK5RAP2, CDK6, CDKL5, CDKN1C, CDON, CECR1, CELF4, CENPE, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP164, CEP290, CEP41, CEP57, CEP63, CERS1, CHAT, CHD1, CHD1L, CHD2, CHD4, CHD7, CHD8, CHKB, CHL1, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CIC, CIT, CKAP2L, CLCF1, CLCN2, CLCN4, CLCNKA, CLCNKB, CLDN16, CLEC7A, CLIC2, CLIP1, CLMP, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLTC, CNKSR2, CNNM2, CNOT3, CNPY3, CNTN2, CNTN4, CNTNAP1, CNTNAP2, COA3, COA5, COA7, COG1, COG2, COG4, COG5, COG6, COG7, COG8, COL13A1, COL18A1, COL4A1, COL4A2, COL4A3BP, COLGALT1, COMT, COPB2, COQ2, COQ4, COQ6, COQ9, COX10, COX14, COX15, COX20, COX6B1, COX7B, COX8A, CPA6, CPLX1, CPOX, CPS1, CPT1A, CPT2, CRADD, CRB2, CRBN, CREBBP, CRELD1, CRH, CRHR1, CRIPT, CRKL, CRLF1, CSF1R, CSMD1, CSNK2A1, CSNK2B, CSPP1, CSTB, CTBP1, CTC1, CTCF, CTH, CTLA4, CTNNB1, CTNND2, CTR9, CTSA, CTSD, CTSF, CTU2, CUL4B, CUX1, CUX2, CXCR4, CYC1, CYFIP2, CYP26C1, CYP27A1, CYP27B1, CYP2C9, CYP2R1, CYP2U1, D2HGDH, DAG1, DARS2, DBH, DBT, DCC, DCHS1, DCX, DDC, DDOST, DDX3X, DEAF1, DENND5A, DEPDC5, DGKD, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHX30, DIAPH1, DIP2B, DIP2C, DIS3L2, DISP1, DLAT, DLD, DLG1, DLG2, DLG3, DLG4, DLGAP2, DLL1, DLL4, DMBX1, DMD, DNA2, DNAJC12, DNAJC19, DNAJC5, DNAJC6, DNASE1L3, DNM1, DNM1L, DNMT3A, DOCK6, DOCK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DPYS, DSCAM, DSTYK, DYNC1H1, DYRK1A, EARS2, EBF3, EBP, ECE1, ECHS1, ECM1, EDC3, EEF1A2, EFHC1, EFHC2, EFTUD2, EGF, EHHADH, EHMT1, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, ELMO2, ELOVL4, ELP4, EMC1, EMG1, EML1, EMX2, EOGT, EP300, EPB41L1, EPG5, EPM2A, EPRS, EPT1, ERBB2IP, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERF, ERLIN2, ERMARD, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOC6B, EXOSC3, EXOSC8, EXT2, EXTL3, EZH2, FA2H, FADD, FAM111A, FAM126A, FAM183A, FAM58A, FAR1, FARS2, FARSB, FASLG, FASN, FASTKD2, FAT4, FBP1, FBXL4, FBXO11, FBXO28, FBXO31, FDXR, FGD1, FGF12, FGF13, FGF23, FGF8, FGFR1, FGFR2, FGFR3, FGFRL1, FH, FIG4, FKRP, FKTN, FLII, FLNA, FLRT3, FLVCR1, FLVCR2, FMN2, FMR1, FOLR1, FOXG1, FOXH1, FOXP1, FOXRED1, FRMPD4, FRRS1L, FTL, FTO, FTSJ1, FUCA1 , FUK, FXYD2, G6PC, GABBR2, GABRA1, GABRA3, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG2, GABRG3, GABRQ, GABRR1, GABRR3, GAD1, GAL, GALC, GAMT, GAS1, GATA3, GATA6, GATAD2B, GATM, GBA, GCDH, GCH1, GCM2, GCSH, GDI1, GDNF, GEMIN4, GFAP, GFER, GFM1, GFM2, GJA1, GJC2, GK, GLB1, GLDC, GLE1, GLI2, GLI3, GLRA1, GLRB, GLRX5, GLS, GLTSCR1, GLUD1, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNAI1, GNAO1, GNAQ, GNAS, GNB1, GNB5, GNE, GNPTAB, GNPTG, GNRH1, GNS, GOLGA2, GOSR2, GP9, GPAA1, GPC3, GPC4, GPHN, GPR161, GPSM2, GPT2, GRIA2, GRIA3, GRIA4, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRIP1, GRM1, GRM7, GRM8, GRN, GSPT2, GSS, GTF2E2, GTF2H5, GTF2IRD1, GTPBP2, GTPBP3, GUCY1A3, GUF1, GUSB, GYS1, GYS2, H3F3A, H3F3B, HACE1, HADH, HARS2, HAX1, HCCS, HCFC1, HCN1, HCN2, HDAC1, HDAC4, HDAC8, HECW2, HEPACAM, HERC1, HERC2, HESX1, HEXA, HEXB, HGSNAT, HIBCH, HIC1, HIP1, HIRA, HIVEP2, HK1, HLCS, HMBS, HMGCL, HMGCS2, HNRNPH2, HNRNPL, HNRNPR, HNRNPU, HOXA1, HPD, HRAS, HSD17B10, HSD17B4, HSPD1, HTR1A, HTRA2, HUWE1, HYLS1, IARS, IBA57, ICK, IDH2, IDS, IDUA, IER3IP1, IFIH1, IFT122, IFT140, IL10, IL12A, IL12B, IL12RB2, IL17F, IL17RA, IL1RAPL1, IL23R, IL27RA, ILF2, IMPAD1, INO80, INPP4A, INPP5E, INPP5K, INS, INSR, INTS6, INVS, IQCB1, IQSEC1, IQSEC2, IRF2BPL, ISCU, ISG15, ISPD, ITGB6, ITPA, ITPR1, IVD, JAM3, JMJD1C, JRK, KANK1, KANSL1, KARS, KAT2B, KAT6A, KAT6B, KATNB1, KCNA1, KCNA2, KCNAB1, KCNAB2, KCNB1, KCNC1, KCNC3, KCND2, KCND3, KCNH1, KCNJ1, KCNJ10, KCNJ11, KCNJ2, KCNJ6, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCNV2, KCTD3, KCTD7, KDM2B, KDM5B, KDM5C, KDM6A, KIAA0226, KIAA0556, KIAA0586, KIAA0753, KIAA1033, KIAA1109, KIAA1279, KIAA1715, KIAA2022 (NEXMIF), KIF11, KIF1A, KIF2A, KIF4A, KIF5A, KIF5C, KIF7, KIRREL3, KISS1, KLF13, KLHL15, KLHL7, KLLN, KLRC4, KMT2A (MLL), KMT2C, KMT2D, KPNA7, KPTN, KRAS, KRIT1, L1CAM, L2HGDH, LAGE3, LAMA2, LAMB1, LAMC3, LARGE, LARS, LARS2, LAS1L, LBR, LEO1, LETM1, LGI1, LGI4, LHX1, LIAS, LIG4, LIMK1, LINGO1, LIPT1, LMAN2L, LMBRD1, LMNB2, LONP1, LRFN2, LRP2, LRPPRC, LYRM7, LYST, MACF1, MAF, MAFB, MAGEL2, MAGI2, MAN1B1, MANBA, MAOA, MAP1B, MAP2K1, MAP2K2, MAPK1, MAPK10, MAPK3, MAPRE2, MARS2, MAT1A, MATN4, MBD5, MBOAT7, MBTPS2, MC2R, MCCC1, MCCC2, MCEE, MCM4, MCOLN1, MCPH1, MCTP2, MDH2, ME2, MECP2, MED12, MED13, MED13L, MED17, MED23, MED25, MED27, MEF2C, MEGF10, MEIS2, METTL23, MFF, MFHAS1, MFSD2A, MFSD8, MGAT2, MGME1, MGP, MICAL1, MID1, MID2, MIPEP, MKS1, MLC1, MLLT3, MLX, MLYCD, MMAA, MMACHC, MMADHC, MN1, MOCS1, MOCS2, MOGS, MPC1, MPDU1, MPDZ, MPLKIP, MPP7, MPV17, MRAP, MRI1, MRPL44, MRPS16, MRPS22, MSL3, MSX2, MTFMT, MTHFS, MTO1, MTOR, MTPAP, MTR, MTRR, MUT, MVK, MYH1, MYH3, MYO1H, MYO5A, MYO7B, MYO9A, MYOCD, MYT1L, NAA10, NAA15, NACC1, NADK2, NAGA, NAGLU, NAGS, NALCN, NANS, NARS2, NAT8L, NBAS, NBEA, NCOR1, NDE1, NDN, NDP, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NEDD4L, NEK9, NELFA, NEU1, NEUROD2, NF1, NFASC, NFIA, NFIB, NFIX, NFU1, NGLY1, NHEJ1, NHLRC1, NID1, NIN, NIPA1, NIPA2, NIPBL, NKX6-2, NLGN1, NLGN4X, NMNAT1, NNT, NOL3, NONO, NOTCH3, NPAP1, NPC1, NPC2, NPHP1, NPHP3, NPRL2, NPRL3, NR2F1, NRAS, NRXN1, NRXN3, NSD1, NSDHL, NSUN2, NTNG1, NTRK2, NUBPL, NUP107, NUP133, NUS1, OCLN, OCRL, OFD1, OGT, OPA1, OPA3, OPHN1, OSGEP, OSTM1, OTC, OTUD6B, OTX2, PACS1, PACS2, PAFAH1B1, PAH, PAK3, PANK2, PARS2, PAX2, PAX6, PBX1, PC, PCCA, PCCB, PCDH12, PCDH19, PCDH7, PCDHB4, PCK1, PCLO, PCNT, PDCD10, PDE10A, PDE4D, PDE6D, PDGFB, PDGFRB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDYN, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGAP3, PGK1, PGM1, PHC1, PHF21A, PHF3, PHF6, PHGDH, PI4KA, PIBF1, PIEZO2, PIGA, PIGC, PIGG, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGV, PIGW, PIGY, PIK3AP1, PIK3CA, PIK3R2, PLA2G6, PLAA, PLAGL1, PLCB1, PLEKHG2, PLK4, PLP1, PLXND1, PMM2, PMPCA, PNKD, PNKP, PNPLA8, PNPO, PNPT1, PODXL, POGZ, POLA1, POLE, POLG, POLG2, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POU1F1, PPA2, PPM1B, PPM1D, PPM1K, PPOX, PPP1R15B, PPP1R3C, PPP2CA, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PQBP1, PRDM8, PRDX1, PREPL, PRF1, PRICKLE1, PRICKLE2, PRIMA1, PRKAR1A, PRKDC, PRKG2, PRMT7, PRODH, PROP1, PROSC, PRPS1, PRRT2, PRSS12, PRTN3, PRUNE, PSAP, PSAT1, PSMD12, PSPH, PTCH1, PTCHD1, PTEN, PTF1A, PTH, PTPN11, PTPN22, PTPN23, PTPN4, PTPRD, PTS, PUF60, PUM1, PURA, PUS1, PVRL1, PYCR2, QARS, QDPR, QRICH1, RAB11A, RAB11B, RAB18, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RAC1, RAD21, RAF1, RAI1, RALGAPB, RANBP2, RAP1A, RAP1B, RARS2, RASGRP1, RBBP8, RBFOX1, RBFOX3, RBM10, RBM8A, RBPJ, RECQL4, REEP1, RELA, RELN, RERE, RFT1, RGR, RHOBTB2, RILP, RIT1, RLBP1, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF125, RNF13, RNF168, ROBO1, ROBO3, ROGDI, RORA, RORB, RPGRIP1L, RPIA, RPL10, RPS20, RPS6KA3, RREB1, RRM2B, RTN4IP1, RTTN, RYR2, RYR3, SACS, SAMD9, SAMHD1, SARDH, SARS2, SASS6, SATB2, SC5D, SCARB2, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN7A, SCN8A, SCNM1, SCO1, SCO2, SDCCAG8, SDHA, SDHAF1, SEC24C, SEC24D, SEPSECS, SERAC1, SERPINI1, SET, SETBP1, SETD1A, SETD1B, SETD2, SETD5, SGCE, SGSH, SH2B1, SHANK1, SHANK3, SHH, SHOC2, SHROOM4, SIK1, SIN3A, SIX3, SKI, SLC12A1, SLC12A2, SLC12A3, SLC12A5, SLC12A6, SLC13A5, SLC16A1, SLC16A2, SLC17A5 , SLC18A2, SLC19A2, SLC19A3, SLC1A1, SLC1A2, SLC1A3, SLC1A4, SLC20A2, SLC22A5, SLC25A1, SLC25A10, SLC25A12, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC26A1, SLC2A1, SLC33A1, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC37A4, SLC39A8, SLC45A1, SLC46A1, SLC4A10, SLC5A7, SLC6A1, SLC6A17, SLC6A19, SLC6A5, SLC6A8, SLC7A5, SLC7A7, SLC9A1, SLC9A6, SLC9A9, SMAD2, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SMC1A, SMC3, SMCHD1, SMG9, SMPD1, SMS, SNAP25, SNAP29, SNIP1, SNRPN, SNX14, SNX27, SON, SOS1, SOX10, SOX11, SOX2, SOX3, SOX5, SPAST, SPATA5, SPEN, SPG11, SPG20, SPINK5, SPR, SPRED1, SPTAN1, SPTBN4, SQSTM1, SRCAP, SRD5A3, SRPX2, SRSF11, SSR4, SSTR5, ST3GAL3, ST3GAL5, ST5, ST7, ST8SIA2, STAG1, STAG2, STAMBP, STAR, STARD9, STAT1, STAT4, STIL, STRA6, STRADA, STT3A, STT3B, STUB1, STX11, STX16, STX1B, STXBP1, STXBP2, STYXL1, SUCLA2, SUCLG1, SUCO, SUMF1, SUOX, SURF1, SUV420H1, SV2A, SYN1, SYN2, SYNGAP1, SYNJ1, SYP, SYT14, SYT2, SZT2, TAC3, TACO1, TAF1, TANGO2, TAOK2, TAT, TAZ, TBC1D20, TBC1D23, TBC1D24, TBCD, TBCE, TBCK, TBL1XR1, TBR1, TBX1, TBX18, TBX19, TCF4, TCIRG1, TCTN1, TCTN2, TCTN3, TDGF1, TDP2, TECPR2, TECR, TFAP2A, TGDS, TGFBR3, TGIF1, TH, THAP11, THOC2, TIMM50, TIMM8A, TIMMDC1, TK2, TKT, TLK2, TMEM106B, TMEM126B, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM240, TMEM5, TMEM67, TMEM70, TMLHE, TMTC3, TNFRSF11A, TNKS, TNRC6B, TOE1, TP53RK, TPK1, TPP1, TPRKB, TRAF3IP1, TRAF3IP2, TRAF7, TRAK1, TRAPPC11, TRAPPC2L, TRAPPC6B, TRAPPC9, TREX1, TRIM3, TRIM8, TRIO, TRIP12, TRIP13, TRIT1, TRMT1, TRMT10A, TRNT1, TRPM6, TRPS1, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TSHZ3, TSPAN7, TTC19, TUBA1A, TUBA3E, TUBA8, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP4, TUBGCP6, TUFM, TUSC3, TWIST1, TXN2, TYMP, TYROBP, UBA5, UBAC2, UBB, UBE2A, UBE3A, UBN2, UBR5, UBTF, UFC1, UFD1L, UGDH, UMPS, UNC13D, UNC80, UPB1, UPF3B, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, USP15, USP18, USP7, USP9X, VAMP2, VANGL1, VARS, VARS2, VCP, VDR, VLDLR, VPS11, VPS13A, VPS13B, VPS53, VRK1, WAC, WARS2, WDR19, WDR26, WDR4, WDR45, WDR45B, WDR62, WDR73, WDR81, WFS1, WHSC1, WIPI2, WWOX, XK, XPA, XPNPEP3, XPR1, XRCC1, YAP1, YWHAE, YWHAG, ZBTB18, ZBTB20, ZC3H14, ZC4H2, ZDHHC15, ZDHHC9, ZEB2, ZFP57, ZFYVE26, ZIC2, ZMYND11, ZMYND12, ZNF335, ZNF41, ZNF423, ZNF592, ZNF674, ZNF711, ZNF81, ZNHIT3, ZSWIM6
  • Identification of at-risk family members
  • Assist with treatment/management decisions
  • Recurrence risk assessment

Ordering

TG77
6 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81175x1; 81185x1; 81302x1; 81321x1; 81404x1; 81406x2; 81408x2
Yes
Yes
For price inquiries please email zebras@genedx.com

**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.