Cerebrotendinous xanthomatosis (CTX)

Forms and Documents

Test Details

AAAS, AARS, AARS2, AASS, ABCA1, ABCB7, ABCC6, ABCC8, ABCD1, ABHD12, ABHD5, ACAT2, ACBD6, ACD, ACO2, ACOX1, ACP5, ACTB, ADAR, ADCK3, ADCY5, ADCY6, ADD3, ADGRG1, ADSL, AFF2, AFG3L2, AGA, AGRN, AHDC1, AHI1, AIFM1, AIMP1, AIP, AIPL1, ALAD, ALDH18A1, ALDH3A2, ALDH5A1, ALDH7A1, ALG6, ALK, ALS2, AMACR, AMPD2, ANG, ANK3, ANKLE2, ANKRD11, ANO10, ANO3, ANOS1, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APC, APOA1, APOB, APOPT1, APP, APTX, ARFGEF2, ARG1, ARHGAP31, ARID1B, ARL13B, ARL6, ARL6IP1, ARNT2, ARSA, ARSI, ARX, ASL, ASNS, ASPM, ASS1, ATCAY, ATG5, ATL1, ATM, ATP13A2, ATP1A2, ATP1A3, ATP2B3, ATP2B4, ATP5A1, ATP5E, ATP6AP2, ATP7A, ATP7B, ATP8A2, ATPAF1, ATPAF2, ATRX, AUH, B3GALNT2, B3GALT6, B4GALNT1, B4GAT1, B9D1, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCOR, BCS1L, BICD2, BRAT1, BSCL2, BTD, BTK, C10orf2, C12ORF65, C19orf12, C5orf42, CA8, CACNA1A, CACNA1B, CACNA1D, CACNA1G, CACNB4, CACNG2, CAMTA1, CAPN1, CARS2, CASK, CAV1, CBS, CC2D1A, CC2D2A, CCDC88C, CCT5, CDH15, CDK5RAP2, CDK6, CDKL5, CECR1, CENPJ, CEP135, CEP152, CEP290, CEP41, CEP63, CHAMP1, CHAT, CHCHD10, CHD2, CHD7, CHL1, CHMP1A, CHMP2B, CISD2, CIZ1, CKAP2L, CLCN2, CLIC2, CLIP1, CLK2, CLMP, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLRN1, CNTN4, CNTNAP1, COA3, COASY, COG4, COG5, COL18A1, COL4A1, COL4A2, COL6A3, COQ2, COX10, COX14, COX15, COX20, COX6B1, CP, CPS1, CPT1A, CPT1C, CRADD, CRB1, CRBN, CREBBP, CRX, CSF1R, CSPP1, CSTB, CTBP1, CTC1, CTDP1, CTLA4, CTNNB1, CTNND2, CTSD, CTSF, CUL4B, CWF19L1, CYC1, CYP27A1, CYP2U1, CYP7B1, DAG1, DAO, DARS, DARS2, DBT, DCAF17, DCTN1, DCX, DDC, DDHD1, DDHD2, DDX3X, DEAF1, DHCR24, DHFR, DKC1, DLAT, DLD, DLGAP4, DLL4, DMXL2, DNAJC13, DNAJC19, DNAJC3, DNAJC5, DNAJC6, DNASE1L3, DNM1, DNM1L, DNM2, DNMT1, DOCK6, DOCK8, DPM1, DPYD, DPYS, DRD2, DUSP6, DYNC1H1, DYRK1A, DYSF, EARS2, EBF3, ECHS1, EDC3, EDN3, EDNRB, EEF2, EGR2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF4G1, ELOVL4, ELOVL5, EML1, EMX2, ENPP1, ENTPD1, EOGT, EPB41L1, EPB41L4A, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERLIN1, ERLIN2, ETHE1, EXOSC3, EXOSC8, EXT2, EZH2, FA2H, FAAH, FAR1, FARS2, FASTKD2, FBXL4, FBXO31, FBXO7, FEZF1, FGD4, FGF14, FGF17, FGF8, FGFR1, FIG4, FKRP, FKTN, FLNA, FLRT1, FLRT3, FLVCR1, FMN2, FOXG1, FOXP1, FOXP3, FOXRED1, FTL, FUCA1 , FUS, FUZ, FXN, GABRA1, GABRB2, GABRD, GABRG2, GAD1, GALC, GAMT, GAN, GATAD2B, GBA, GBA2, GBE1, GCDH, GCH1, GDF3, GDF6, GEMIN4, GEMIN5, GFAP, GFM1, GIGYF2, GJA1, GJB1, GJB2, GJB6, GJC2, GLB1, GLI2, GLRA1, GLRX5, GLYCTK, GMPPA, GMPPB, GNAL, GNAO1, GNAQ, GNRH1, GNRHR, GOSR2, GPI, GPR101, GPR88, GRID2, GRIK2, GRIN1, GRIN2B, GRM1, GRN, GSS, GUCY2D, HACE1, HARS, HARS2, HCFC1, HCN1, HDAC8, HEPACAM, HESX1, HEXA, HEXB, HFE, HGSNAT, HIBCH, HIC1, HK1, HLA-DPB1, HMBS, HMGCS2, HNRNPA1, HNRNPA2B1, HPCA, HPGD, HPRT1, HS6ST1, HSD17B10, HSD17B4, HSPD1, HSPG2, HTRA2, IBA57, IDH2, IDUA, IFIH1, IFRD1, IFT140, IFT172, IFT27, IL10, IL12A, IL17RD, IL23R, IL6, IMPDH1, INPP5E, IQCB1, IQSEC2, ISCA2, ISPD, ITM2B, ITPR1, JAM3, KANK1, KAT6A, KATNB1, KCNA1, KCNA2, KCNAB2, KCNB1, KCNB2, KCNC3, KCND3, KCNJ10, KCNJ13, KCNJ6, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD17, KCTD7, KDM5C, KDM6A, KIAA0196, KIAA0226, KIAA0586, KIAA2022 (NEXMIF), KIF1A, KIF1C, KIF2A, KIF5A, KIF5C, KIRREL3, KISS1, KISS1R, KLC2, KLC4, L1CAM, L2HGDH, LAMA1, LAMB2, LARS, LARS2, LCA5, LDLR, LHX4, LIAS, LIPT1, LMBRD1, LMNB1, LMNB2, LRAT, LRPPRC, LRRK2, LRSAM1, LYRM7, LZTFL1, MAG, MAN1B1, MAN2B1, MAPT, MARS, MARS2, MAT1A, MATR3, MBD5, MCOLN1, MCPH1, MECP2, MED13L, MED17, MED23, MED25, MEF2C, MEFV, MEOX1, METTL23, MFN2, MFSD2A, MFSD8, MICU1, MKKS, MKS1, MLC1, MLLT3, MMADHC, MOCS1, MOCS2, MPDU1, MPV17, MPZ, MR1, MRE11A, MRPS22, MTFMT, MTO1, MTPAP, MTTP, MUT, MVK, MYCN, MYO5A, MYT1L, NAA10, NADK2, NAGA, NAGLU, NAGPA, NALCN, NAT8L, NDE1, NDRG1, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NEFH, NEFL, NFU1, NGLY1, NHP2, NIPA1, NKAIN2, NKX2-1, NKX6-2, NME1, NMNAT1, NOD2, NOP10, NOTCH1, NOTCH3, NPC1, NPC2, NPHP1, NRAS, NSD1, NSMF, NSUN2, NT5C2, NTNG1, NUBPL, NUP62, OCLN, OPA1, OPA3, OPHN1, OPTN, OTC, OTUD4, OTX2, PACRG, PAFAH1B1, PAFAH1B3, PAH, PAK3, PANK2, PARK2, PARK7, PARN, PAX3, PAX6, PCCA, PCCB, PCDH19, PCLO, PCNA, PDC, PDE10A, PDE8B, PDGFB, PDGFRB, PDHA1, PDHX, PDP1, PDSS2, PDYN, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFN1, PGAP1, PGK1, PGM3, PHC1, PHGDH, PHOX2B, PHYH, PIGA, PIGN, PIGQ, PIK3R5, PINK1, PLA2G6, PLCB1, PLEKHG2, PLEKHG4, PLP1, PLXND1, PMM2, PMP22, PMPCA, PNKD, PNKP, PNP, PNPLA6, PNPLA8, PNPT1, POLA1, POLG, POLG2, POLR1C, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PON1, PON2, PON3, POU1F1, PPARGC1A, PPM1K, PPT1, PQBP1, PRF1, PRICKLE1, PRKCG, PRKRA, PRNP, PROK2, PROKR2, PROP1, PRPH, PRPS1, PRRT2, PRSS12, PRTN3, PRX, PSAP, PSEN1, PSEN2, PTCH1, PTCH2, PTCHD1, PTPN22, PTRH2, PTS, PURA, QARS, QDPR, RAB18, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RAD50, RARS2, RASA1, RAX, RBFOX1, RBM10, RBPJ, RD3, RDH12, REEP1, REEP2, RELN, RETREG1, REV3L, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF125, RNF168, RNF170, RNF216, ROGDI, RPE65, RPGRIP1, RPGRIP1L, RPIA, RRM2B, RTEL1, RTN2, RTN4IP1, RTTN, SACS, SAMD9L, SAMHD1, SASS6, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN4A, SCN8A, SCN9A, SCO1, SCO2, SCP2, SCYL1, SDCCAG8, SDHA, SDHAF1, SDHB, SDHD, SEMA3A, SEPSECS, SERAC1, SETD2, SETX, SGCE, SHANK3, SHH, SIGMAR1, SIK1, SIL1, SIX3, SKI, SLC12A5, SLC12A6, SLC13A5, SLC16A2, SLC17A5 , SLC19A2, SLC19A3, SLC1A3, SLC1A4, SLC20A2, SLC25A1, SLC25A12, SLC25A15, SLC25A22, SLC25A4, SLC25A46, SLC2A1, SLC2A3, SLC30A10, SLC33A1, SLC39A14, SLC39A4, SLC46A1, SLC52A2, SLC52A3, SLC6A1, SLC6A17, SLC6A19, SLC6A3, SLC6A8, SLC9A1, SLC9A6, SMAD4, SMARCA4, SMARCB1, SMC1A, SMPD1, SNAP25, SNCA, SNX14, SOD1, SORL1, SOST, SOX10, SOX2, SOX3, SOX6, SPAST, SPATA5, SPATA7, SPG11, SPG20, SPG21, SPG7, SPR, SPRY4, SPTAN1, SPTBN2, SQSTM1, SRD5A3, ST3GAL3, ST3GAL5, STAMBP, STAT4, STIL, STK11, STRADA, STUB1, STX11, STXBP1, STXBP2, SUCLA2, SUCLG1, SUFU, SUMF1, SUOX, SURF1, SYNE1, SYNGAP1, SYNJ1, SYT14, SYT2, TAC3, TACO1, TACR3, TAF1, TAF2, TARDBP, TBC1D20, TBC1D24, TBK1, TBX18, TCF4, TCN2, TCTN1, TCTN2, TDP1, TDP2, TEAD1, TECPR2, TECR, TERT, TFG, TGM6, TH, THAP1, THG1L, TIMM8A, TINF2, TK2, TLR4, TMEM138, TMEM216, TMEM231, TMEM237, TMEM240, TMEM5, TMEM67, TMEM70, TOP2A, TOR1A, TOR1AIP1, TPI1, TPK1, TPM2, TPM3, TPP1, TRAPPC11, TRAPPC9, TREM2, TREX1, TRIM32, TRNT1, TSEN2, TSEN34, TSEN54, TSFM, TTBK2, TTC19, TTC8, TTF1, TTPA, TTR, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TULP1, TUSC3, TYMP, TYROBP, UBA5, UBE3A, UBQLN2, UBTF, UCHL1, UNC13A, UNC13D, UNC80, UPB1, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, UROC1, UROD, USB1, USP8, VAMP1, VAPB, VARS2, VCP, VLDLR, VPS13A, VPS13B, VPS16, VPS35, VPS37A, VPS53, VRK1, VWA3B, VWF, WDPCP, WDR11, WDR45, WDR48, WDR62, WDR73, WDR81, WFS1, WNK1, WRAP53, WWOX, XPA, XPR1, XRCC1, XRCC4, YWHAE, ZC3H14, ZC4H2, ZFR, ZFYVE26, ZFYVE27, ZNF335, ZNF423, ZNF592
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with ataxia

Ordering

J762
6 weeks
2-5 mL Blood - Lavender Top Tube
Dried Blood Spots | Buccal Swabs

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

Billing

81286x1, 81185x1, 81403x1, 81404x1, 81405x2, 81406x4, 81407x1, 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.

References

  1. Bird T. Hereditary Ataxia Overview. 1998 Oct 28 [Updated 2016 Nov 3]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncbi.nlm.nih.gov/boo
  2. Finsterer et al. (2009) Can J Neurol Sci 36 (4):409-28 (PMID: 19650351)
  3. Jayadev et al. (2013) Genet. Med. 15 (9):673-83 (PMID: 23538602)
  4. Sandford et al. (2014) Genes (Basel) 5 (3):586-603 (PMID: 25055202)
  5. Durr et al. (2010) Lancet Neurol 9 (9):885-94 (PMID: 20723845)
  6. Embiruçu et al. (2009) Arq Neuropsiquiatr 67 (4):1143-56 (PMID: 20069237)
  7. Kalia et al. (2016) Genet. Med.: (PMID: 27854360)
  8. Nemeth et al. (2013) Brain 136 (Pt 10):3106-18 (PMID: 24030952)
  9. Sastry et al. Exome Sequencing Provides a Broad Evaluation and High Diagnostic Rate for Ataxia-Related Disorders [abstract and platform presentation] To be presented at the 2017 ACMG Annual Clinical Genetics Meeting, March 21-25, 2016 Phoenix, AZ
  10. Retterer et al. (2015) Genet. Med.: (PMID: 26633542)

Forms and Documents

Test Details

AARS, AARS2, ABAT, ABCD1, ACADS, ACER3, ACOX1, ACY1, ADAR, ADGRG1, ADSL, AHDC1, AIMP1, ALDH3A2, ALDH6A1, AMN, AMPD2, ANK3, AP4B1, AP4S1, APOPT1, ARHGAP31, ARHGEF10, ARNT2, ARSA, ASNS, ASPA, ASXL1, AUH, BCAP31, BCS1L, BEST1, BMP4, BRAT1, CARS2, CCDC88A, CHMP2B, CLCN2, CLN6, CLP1, COL4A1, COL4A2, COX10, COX15, COX7B, CPLX1, CSF1R, CTBP1, CTC1, CTDP1, CYP27A1, CYP7B1, D2HGDH, DAG1, DARS, DARS2, DDHD2, DEAF1, DHFR, DHH, DLL4, DNM2, DOCK6, DPYS, DYRK1A, EARS2, EDNRB, EGR2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ENTPD1, EOGT, ERCC2, ERCC6, ERCC8, FA2H, FAM126A, FBXL4, FGD4, FGFRL1, FIG4, FKRP, FOXC1, FOXG1, FOXRED1, GAA, GALC, GAN, GBE1, GCDH, GDAP1, GFAP, GFM1 (EFG1), GJA1, GJB1, GJC2, GLB1, GLUL, GLYCTK, GNAO1, GRM7, GRN, HEPACAM, HEXA, HSD17B4, HSPD1, HTRA1, IBA57, IDUA, IER3IP1, IFIH1, ISCA2, ITPA, KARS, KCNJ10, KCNT1, L2HGDH, LAMA1, LAMA2, LAMB1, LARGE1, LETM1, LIPT1, LITAF, LMNB1, LRPPRC, LYRM7, MAPT, MARS2, MAT1A, MCOLN1, MEF2C, MLC1, MOCS1, MOCS2, MPV17, MPZ, MRPS22, MTFMT, MTTP, MUT, NADK2, NDRG1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF3 (C3ORF60), NDUFAF4 (C6ORF66), NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NEFL, NFU1, NGLY1, NOTCH1, NOTCH3, NRXN1, NSD2, NUBPL, OCRL, PAFAH1B1, PC, PCDH12, PDYN, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PHGDH, PHYH, PIGA, PLEKHG2, PLP1, PMP22, POLG, POLR1C, POLR3A, POLR3B, POMK, POMT1, PPP2R1A, PRKDC, PRPS1, PRX, PSAP, PSEN1, PTEN, PURA, PYCR2, QARS, RARS, RBPJ, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF216, RPIA, RPS6KC1, SAMHD1, SBF2, SCP2, SDHA, SDHAF1, SDHB, SDHD, SEPSECS, SH3TC2, SHANK3, SHPK, SLC16A2, SLC17A5 , SLC1A4, SLC25A1, SLC25A12, SLC25A22, SLC33A1, SLC35A2, SLC46A1, SLC6A8, SNIP1, SOX10, SPATA5, SPG11, SPG20, SPTAN1, SQSTM1, SSR4, STAMBP, STAT1, STXBP1, SUMF1, SURF1, SYNE1, TACO1, TAF2, TARS2, TM4SF20, TMEM126B, TMEM165, TMEM187, TMEM70, TRAPPC9, TREM2, TREX1, TRMT10A, TRMT5, TSC1, TSEN54, TUBB2A, TUBB4A, TUFM, TYMP, TYROBP, UBE2A, UPB1, VARS2, VCP, VPS11, WWOX, ZEB2, ZFYVE26, ZNF335
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with leukodystrophy or leukoencephalopathy
  • 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

Ordering

J853
6 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

81404x5, 81405x6, 81406x5, 81401x1
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.

References

  1. Vanderver A et al. Leukodystrophy Overview. 2014 Feb 6. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncbi.nlm.nih.gov/books/NBK184570/.
  2. Bonkowsky et al. (2010) Neurology 75 (8):718-25 (PMID: 20660364)
  3. Heim P, Claussen M, Hoffmann B, Conzelmann E, Gärtner J, Harzer K, Hunneman DH, Köhler W, Kurlemann G, Kohlschütter A. Leukodystrophy incidence in Germany. Am J Med Genet. 1997;71:475–8 (PMID: 9286459).
  4. Zou et al. Whole exome sequencing: an effective and comprehensive genetic testing approach for leukodystrophy [abstract submitted] To be presented at the 2017 ASHG Annual Genetics Meeting, October 17-21, Orlando, FL.

Forms and Documents

Test Details

ABCA3, ABHD5, ADAMTSL4, AGK, AKR1E2, ALDH18A1, BCOR, BEST1, BFSP1, BFSP2, CHMP4B, COL11A1, COL2A1, COL4A1, COL4A2, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, CYP27A1, CYP51A1, EBP, EPG5, EPHA2, ERCC2, ERCC5, ERCC6, ERCC8, EYA1, FAM126A, FOXC1, FOXE3, FTL, FYCO1, FZD4, GALK1, GALT, GCNT2, GFER, GJA1, GJA3, GJA8, HMX1, HSF4, JAM3, LIM2, LONP1, LSS, MAF, MAN2B1, MIP, MIR184, MYH9, NDP, NF2, NHS, OCRL, OPA3, PAX6, PEX11B, PEX7, PITX2, PITX3, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RECQL4, RGS6, RNLS, RRAGA, SC5D, SIL1, SIPA1L3, SIX6, SLC16A12, SLC33A1, TBC1D20, TDRD7, TFAP2A, TMEM70, UNC45B, VIM, VSX2, WDR87, WFS1, WRN
  • Cataracts that are not age-related
  • Cataracts co-occurring with other symptoms
  • Microopthalmia and glaucoma commonly co-occur. Additional eye findings may suggest a syndrome
  • Sporadic or familial inheritance patterns

Ordering

J958
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

81403x1; 81404x1; 81405x2; 81406x1; 81479x1
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.

References

  1. Deng et al. (2014) Eur J Med Genet 57 (2-3):113-22 (PMID: 24384146)
  2. Patel et al. (2017) Hum. Genet. 136 (2):205-225 (PMID: 27878435)
  3. Ma et al. (2016) Hum. Mutat. 37 (4):371-84 (PMID: 26694549)
  4. Shiels et al. (2015) Prog Mol Biol Transl Sci 134 :203-18 (PMID: 26310156)
  5. Aldahmesh et al. (2012) Genetics In Medicine : Official Journal Of The American College Of Medical Genetics 14 (12):955-62 (PMID: 22935719)