Bardet-Biedl Syndrome

Forms and Documents

Test Details

AAAS, ABCA4, ABCB6, ABCC6, ABCD1, ABHD12, ACBD5, ACO2, ACTB, ACTG1, ACVR1, ACVR2B, ADAM9, ADAMTS10, ADAMTS17, ADAMTS18, ADAMTSL4, ADIPOR1, AFG3L2, AGBL1, AGBL5, AGK, AGPS, AHI1, AHR, AIPL1, AKR1E2, ALDH18A1, ALDH1A3, ALDH3A2, ALG2, ALG6, ALMS1, ALX1, AMACR, ANKS6, ANTXR1, AP3B1, AP3D1, AP5Z1, APTX, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARMC9, ARNT2, ARSG, ARX, ASB10 (GLC1F), ASIC5, ASPH, ASRGL1, ATAD3A, ATF6, ATM, ATOH7, ATP13A2, ATP1A3, ATP6V1E1, B3GALNT2, B4GAT1, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BCS1L, BEST1, BFSP1, BFSP2, BLOC1S3, BLOC1S6, BMP4, BMP7, BRIP1, BTD, C10ORF11, C10orf2, C12ORF57, C12ORF65, C1QTNF5, C21ORF2, C2CD3, C2ORF71, C5orf42, C8ORF37, CA2, CA4, CABP4, CACNA1A, CACNA1F, CACNA1H, CACNA2D4, CANT1, CAPN15, CAPN5, CASK, CAV1, CBS, CC2D2A, CCDC28B, CCT2, CD96, CDH23, CDH3, CDHR1, CDON, CENPF, CEP104, CEP120, CEP164, CEP19, CEP250, CEP290, CEP41, CEP78, CEP83, CERKL, CFAP57, CFH, CFI, CHD7, CHM, CHMP4B, CHN1, CHRDL1, CHST6, CIB2, CISD2, CKAP4, CLDN19, CLN3, CLN5, CLN6, CLN8, CLPB, CLRN1, CLUAP1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL17A1, COL18A1, COL1A1, COL2A1, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL5A1, COL8A2, COL9A1, COL9A2, COL9A3, COX14, COX6B1, COX7B, CPAMD8, CRB1, CRB2, CREBBP, CRX, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYGA, CRYGB, CRYGC, CRYGD, CRYGS, CSPP1, CTC1, CTDP1, CTNNA1, CTNNB1, CTNS, CTSD, CTSF, CWC27, CYP1B1, CYP27A1, CYP4V2, CYP51A1, DAG1, DCN, DDB2, DFNB31, DGKQ, DHCR7, DHDDS, DHX32, DHX38, DIAPH1, DNAH11, DNAJC17, DNAJC19, DNAJC5, DNM1L, DNM2, DNMBP, DPAGT1, DPM1, DRAM2, DSCAML1, DTHD1, DTNBP1, DYNC2H1, EDN3, EDNRB, EFEMP1, EIF2B2, ELOVL4, EMC1, EPG5, EPHA2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ESCO2, ESPN, EVC, EVC2, EXOC8, EXOSC2, EYA1, EYS, FAM126A, FAM161A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAR1, FASTKD2, FBLN5, FBXL4, FDXR, FIBP, FKRP, FKTN, FLVCR1, FOXC1, FOXC2, FOXD1, FOXE3, FOXL2, FOXRED1, FRAS1, FREM1, FREM2, FRMD7, FSCN2, FTL, FYCO1, FZD4, GALE, GALK1, GALT, GBA, GCNT2, GDF3, GDF6, GFER, GJA1, GJA3, GJA8, GJB2, GJB6, GJC3, GLA, GLB1, GLIS2, GMPPA, GMPPB, GNAI3, GNAT1, GNAT2, GNB1, GNB3, GNB5, GNPAT, GNPTG, GNS, GPR125, GPR143, GPR179, GPR98, GRIP1, GRK1, GRM6, GRN, GSN, GTF2H5, GUCA1A, GUCA1B, GUCY2D, HADHA, HADHB, HARS, HCCS, HCN1, HESX1, HEXA, HEXB, HGSNAT, HK1, HMCN1, HMGB3, HMX1, HPS1, HPS3, HPS4, HPS5, HPS6, HSF4, HYLS1, IARS2, IDH3A, IDH3B, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT74, IFT80, IFT81, IFT88, IGBP1, IGFBP7, IMPDH1, IMPG1, IMPG2, INPP5E, INPP5K, INVS, IQCB1, ISCA2, ISPD, ITM2B, ITPR1, JAG1, JAM3, KAT6B, KCNJ13, KCNV2, KCTD7, KERA, KIAA0556, KIAA0586, KIAA0753, KIAA1549, KIDINS220, KIF11, KIF21A, KIF5A, KIF7, KITLG, KIZ, KLHL7, KRT12, KRT3, LAMA1, LAMB1, LCA5, LCT, LEFTY2, LEMD2, LEPREL1, LIM2, LMX1B, LONP1, LOXHD1, LOXL1, LRAT, LRIT3, LRP2, LRP5, LRPAP1, LSS, LTBP2, LTBP3, LYST, LZTFL1, MAB21L2, MAF, MAK, MAN2B1, MAPKAPK3, MCOLN1, MECR, MED25, MERTK, MFF, MFN2, MFRP, MFSD8, MIP, MITF, MKKS, MKS1, MLPH, MMACHC, MMP1, MMP19, MPDU1, MPDZ, MSMO1, MTTP, MVK, MYH9, MYO5A, MYO7A, MYOC, NAA10, NBAS, NDP, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEK1, NEK2, NEK8, NEU1, NEUROD1, NF1, NHS, NLRP1, NMNAT1, NOD2, NODAL, NOTCH2, NPC1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NTF4, NUBPL, NUS1, NXNL1, NYX, OAT, OCA2, OCRL, OFD1, OPA1, OPA3, OPN1LW, OPN1SW, OPTC, OPTN, OR2W3, OTX2, OVOL2, P4HA2, PANK2, PAX2, PAX3, PAX6, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDZD7, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PHOX2A, PHYH, PIBF1, PIEZO2, PIGL, PIGT, PIGY, PIK3R1, PIKFYVE, PITPNM3, PITX2, PITX3, PLA2G5, PLK4, PLOD1, PLOD3, PMM2, PNPLA6, POC1B, POC5, POGZ, POMGNT1, POMT1, PORCN, PPT1, PQBP1, PRCD, PRDM13, PRDM5, PRIMPOL, PRKCG, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PRSS56, PTCH1, PVRL3, PXDN, RAB18, RAB27A, RAB28, RAB3GAP1, RAB3GAP2, RARB, RAX, RAX2, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, RECQL4, REEP6, RERE, RGR, RGS6, RGS9, RGS9BP, RHO, RIMS1, RLBP1, RNLS, ROBO3, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPS19, RRAGA, RRM2B, RS1, RTN4IP1, SACS, SAG, SALL1, SALL2, SALL4, SAMD11, SBF2, SC5D, SCAPER, SCLT1, SCO2, SDCCAG8, SDHAF1, SEC23A, SEMA3E, SEMA4A, SETX, SH3PXD2B, SHH, SIL1, SIPA1L3, SIX3, SIX5, SIX6, SLC16A12, SLC18A3, SLC24A1, SLC24A5, SLC25A1, SLC25A4, SLC25A46, SLC2A1, SLC33A1, SLC38A8, SLC39A5, SLC45A2, SLC4A11, SLC4A4, SLC4A5, SLC4A7, SLC52A2, SLC7A14, SLITRK6, SLX4, SMCHD1, SMOC1, SMPD1, SNAI2, SNRNP200, SOX10, SOX2, SOX3, SPATA7, SPINT2, SPP2, SRD5A3, SREBF2, STRA6, STS, STT3B, STX3, SUCLA2, SUFU, SUOX, SYTL4, TACSTD2, TBC1D20, TCF4, TCIRG1, TCTN1, TCTN2, TCTN3, TDRD7, TEAD1, TEK, TENM3, TFAP2A, TGFB1, TGFBI, TIMM8A, TIMP3, TINF2, TLR3, TLR4, TMED7, TMEM107, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM5, TMEM67, TMEM70, TMEM98, TNPO1, TOPORS, TPP1, TRAF3IP1, TREX1, TRIM32, TRNT1, TRPM1, TSFM, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TTR, TUB, TUBA8, TUBB, TUBB3, TUBB4B, TUBGCP4, TUBGCP6, TULP1, TYMP, TYR, TYRP1, UBE3B, UBIAD1, UCHL1, UNC119, UNC45B, USH1C, USH1G, USH2A, USP9X, VAX1, VCAN, VIM, VPS13B, VSX1, VSX2, WDPCP, WDR19, WDR34, WDR35, WDR36, WDR60, WDR87, WFS1, WRN, XPA, XPC, XYLT2, YAP1, YME1L1, ZEB1, ZEB2, ZIC3, ZNF408, ZNF423, ZNF469, ZNF513, ZNF644, ZNHIT3
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with retinal dystrophies
  • 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

J905
8 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

81434x1
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. Sahel et al. (2014) Cold Spring Harb Perspect Med 5 (2):a017111 (PMID: 25324231)
  2. Kocur et al. (2002) Br J Ophthalmol 86 (7):716-22 (PMID: 12084735);
  3. Ayuso et al. (2010) Genome Med 2 (5):34 (PMID: 20519033)
  4. Finger et al. (2011) Invest. Ophthalmol. Vis. Sci. 52 (7):4381-9 (PMID: 21447690)
  5. den Hollander et al. (2006) American Journal Of Human Genetics 79 (3):556-61 (PMID: 16909394)
  6. Braun et al. (2013) Human Molecular Genetics 22 (25):5136-45 (PMID: 23918662)
  7. Zernant et al. (2014) Hum. Mol. Genet. 23 (25):6797-806 (PMID: 25082829)
  8. Bauwens et al. (2015) Hum. Mutat. 36 (1):39-42 (PMID: 25346251)
  9. Schulz et al. (2017) Invest. Ophthalmol. Vis. Sci. 58 (1):394-403 (PMID: 28118664)
  10. Beryozkin et al. (2015) Sci Rep 5 :13187 (PMID: 26306921)
  11. Lee et al. (2015) Am. J. Ophthalmol. 160 (2):354-363.e9 (PMID: 25910913)
  12. de Castro-Miro et al. (2016) PLoS ONE 11 (12):e0168966 (PMID: 28005958)
  13. Haer-Wigman et al. (2017) Eur. J. Hum. Genet. 25 (5):591-599 (PMID: 28224992)
  14. Riera et al. (2017) Sci Rep 7 :42078 (PMID: 28181551)
  15. Carss et al. (2017) Am. J. Hum. Genet. 100 (1):75-90 (PMID: 28041643)
  16. Retterer et al. (2015) Genet. Med.: (PMID: 26633542)

Forms and Documents

Test Details

A2ML1, ABCC9, ABL1, ACTA2, ACTB, ACTC1, ACTG1, ACVR1, ACVR2B, ADAMTS10, ADAMTS17, ADNP, AFF4, AHI1, AK7, ALG9, AMER1, ANKRD1, ANKS6, ARHGAP31, ARID1A, ARID1B, ARL13B, ARL2BP, ARL6, ARMC4, ASXL2, B3GLCT, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCL9L, BCOR, BRAF, BRIP1, C21ORF59, C2CD3, CBL, CC2D2A, CCBE1, CCDC103, CCDC114, CCDC151, CCDC22, CCDC28B, CCDC39, CCDC40, CCDC65, CCNO, CD96, CDC42, CDK13, CDKN1C, CEP104, CEP120, CEP164, CEP290, CEP41, CEP57, CEP83, CFAP53, CFC1, CHD4, CHD7, CHUK, CITED2, CPLANE1, CREBBP, CRELD1, CSPP1, DCDC2, DCHS1, DDX11, DDX59, DHCR7, DLL4, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH6, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DNMT3A, DOCK6, DPH1, DRC1, DYNC2H1, DYNC2LI1, DYX1C1, ECE1, EFTUD2, EHMT1, ELN, EOGT, EP300, EPHB4, ERCC4, ESCO2, EVC, EVC2, EXOC8, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FLNA, FLT4, FOXC1, FOXC2, FOXH1, FTO, G6PC3, GALNT11, GAS8, GATA4, GATA5, GATA6, GDF1, GJA1, GJA5, GLIS2, GPC3, HAAO, HAND1, HES7, HNRNPK, HOXA1, HRAS, HYDIN, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT57, IFT80, INPP5E, INTU, INVS, IQCB1, JAG1, KANSL1, KAT6A, KAT6B, KDM6A, KIAA0556, KIAA0586, KIAA0753, KIF11, KIF14, KIF7, KMT2D, KRAS, KYNU, LEFTY2, LRRC6, LTBP2, LTBP4, LZTFL1, LZTR1, MAD2L2, MAP2K1, MAP2K2, MAP3K7, MCIDAS, MCTP2, MED13L, MED25, MEGF8, MEIS2, MGP, MID1, MKKS, MKS1, MMP21, MYCN, MYH11, MYH6, MYH7, MYRF, NAA10, NAA15, NEK1, NEK2, NEK8, NF1, NFE2L2, NHS, NIPBL, NKX2-5, NKX2-6, NME8, NODAL, NOTCH1, NOTCH2, NPHP1, NPHP3, NPHP4, NR2F2, NRAS, NSD1, NSDHL, OFD1, PALB2, PBX1, PDE6D, PDGFRA, PIBF1, PIGA, PIGL, PIGN, PIGO, PIH1D3, PITX2, PKD1L1, PKD2, PLD1, POC1A, PPP1CB, PQBP1, PRDM6, PRKD1, PTPN11, RAB23, RAD21, RAD51, RAD51C, RAF1, RARB, RBFOX2, RBM10, RBPJ, RECQL4, RERE, RFWD3, RIT1, ROR2, RPGR, RPGRIP1L, RPL11, RPL15, RPL26, RPL27, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS29, RPS6KA3, RRAS, RSPH1, RSPH3, RSPH4A, RSPH9, SALL1, SALL4, SCLT1, SDCCAG8, SEMA3E, SETBP1, SETD5, SHOC2, SLC2A10, SLX4, SMAD2, SMAD4, SMAD6, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SMG9, SON, SOS1, SOS2, SOX11, SPAG1, SPECC1L, STRA6, STRADA, TAB2, TBX1, TBX2, TBX20, TBX3, TBX5, TCTEX1D2, TCTN1, TCTN2, TCTN3, TFAP2B, TGDS, TKT, TLL1, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM260, TMEM67, TRAF7, TRAP1, TRIM32, TRRAP, TTC21B, TTC25, TTC8, TWIST1, UBE2T, UBR1, USP9X, WDPCP, WDR19, WDR34, WDR35, WDR60, WNT5A, XRCC2, ZEB2, ZFPM2, ZIC3, ZMYND10, ZNF423
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with treatment/management decisions
  • Recurrence risk assessment

Ordering

TJ07
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

81307x1; 81404x2; 81405x2; 81406x2; 81407x1; 81408x2
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.