Bardet-Biedl Syndrome

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Test Details

AAAS, ABCA1, ABCA4, ABCC6, ABCD1, ABHD12, ACBD5, ACO2, ACOX1, ACTB, ACTG1, ACVR1, ACVR2B, ADAM9, ADAMTS10, ADAMTS17, ADAMTS18, ADAMTSL4, ADGRV1 (GPR98), ADIPOR1, AGBL1, AGBL5, AGK, AGPS, AHI1, AIPL1, AIRE, AKAP9, ALDH18A1, ALDH1A3, ALDH3A2, ALG2, ALG6, ALMS1, ALX1, AMACR, AMT, ANKLE2, ANKS6, ANTXR1, AP3B1, AP3D1, ARL13B, ARL2BP, ARL3, ARL6, ARNT2, ARSB, ARX, ASB10 (GLC1F), ASPA, ASPH, ASRGL1, ATAD3A, ATF4, ATF6, ATIC, ATM, ATOH7, ATP13A2, ATP1A3, ATXN7, B3GALNT2, B3GALTL, B4GAT1, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BCS1L, BEST1, BFSP1, BFSP2, BLOC1S3, BLOC1S6, BMP1, BMP4, BMP7, BRAF, BRIP1, BTD, BUB1B, C10ORF11, C10orf2, C12ORF57, C12ORF65, C1ORF186, C1QTNF5, C21ORF2, C2CD3, C2ORF71, C5orf42, C8ORF37, CA2, CA4, CABP4, CACNA1A, CACNA1F, CACNA1H, CACNA2D4, CANT1, CAPN15, CAPN5, CASK, CAV1, CBS, CC2D2A, CCDC103, CCDC114, CCDC28B, CCDC39, CCDC40, CD320, CD96, CDH23, CDH3, CDHR1, CDKN2A, CDON, CEP164, CEP250, CEP290, CEP41, CEP78, CEP83, CERKL, CFAP57, CHD3, CHD7, CHM, CHMP4B, CHN1, CHRDL1, CHST14, CHST6, CHSY1, CIB2, CISD2, CKAP4, CLCN7, CLDN19, CLN3, CLN5, CLN6, CLN8, CLPB, CLRN1, CLUAP1, CNBP, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL17A1, COL18A1, COL1A1, COL1A2, COL2A1, COL4A1, COL4A3, COL4A4, COL4A5, COL5A1, COL5A2, COL8A2, COL9A1, COL9A2, COL9A3, COLEC11, COX14, COX6B1, COX7B, CP, CPAMD8, CRB1, CREBBP, CRELD1, CRIPT, CRTAP, CRX, CSPP1, CTC1, CTCF, CTDP1, CTNNA1, CTNS, CTSA, CTSD, CTSF, CWC27, CYP1B1, CYP27A1, CYP4V2, DAG1, DBH, DCDC1, DCN, DDB2, DDX11, DDX58, DFNB31, DHCR7, DHDDS, DHODH, DHX38, DIAPH1, DMD, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH10, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJC17, DNAJC19, DNAJC5, DNAL1, DNM2, DOCK6, DPAGT1, DPM1, DRAM2, DSE, DTHD1, DTNBP1, DYNC2H1, EBP, EDN3, EDNRA, EFEMP1, EIF4G1, ELOVL4, ELP4, EMC1, EPG5, EPHA2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ESCO2, EVC, EVC2, EXOSC2, EXOSC8, EYA1, EYS, FAM111A, FAM126A, FAM161A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAR1, FASTKD2, FBLN5, FBN2, FBXL4, FIBP, FKBP14, FKRP, FKTN, FLNB, FLVCR1, FOXC1, FOXC2, FOXD1, FOXE3, FOXF2, FOXH1, FOXL2, FOXRED1, FRAS1, FREM1, FREM2, FRMD7, FSCN2, FTL, FXN, FYCO1, FZD4, GALE, GALK1, GALNS, GALT, GBA, GBA2, GCNT2, GCSH, GDF1, GDF3, GDF6, GFER, GJA1, GJA8, GJB2, GJB6, GJE1, GLB1, GLDC, GLIS2, GLIS3, GM2A, GMPPA, GMPPB, GNAT1, GNAT2, GNB1, GNB3, GNPAT, GNPTG, GNS, GPC3, GPHN, GPR125, GPR143, GPR179, GRIP1, GRK1, GRM6, GRN, GSN, GSS, GTF2H5, GUCA1A, GUCA1B, GUCY2D, GUSB, HADHA, HADHB, HARS, HCCS, HCN1, HDAC6, HESX1, HEXA, HEXB, HGSNAT, HK1, HLCS, HMCN1, HMGB3, HMX1, HNRNPDL, HOXB1, HPS1, HPS3, HPS4, HPS5, HPS6, HSF4, HYLS1, IARS2, IBA57, IDH3B, IDUA, IFIH1, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT74, IFT80, IFT81, IFT88, IGBP1, IGFBP7, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, IRX1, ISCA2, ISPD, ITM2B, ITPR1, JAG1, JAM3, KAT6B, KCNJ13, KCNJ3, KCNV2, KCTD7, KDM6A, KERA, KIAA0586, KIAA1549, KIDINS220, KIF11, KIF5A, KIF7, KIZ, KLHL7, KMT2D, KRT12, KRT2, KRT3, LAMA1, LAMB1, LAMB2, LARGE1, LCA5, LCT, LEFTY2, LEMD2, LHX2, LIM2, LMX1B, LONP1, LOXHD1, LOXL1, LRAT, LRIT3, LRP2, LRP5, LRPAP1, LRRC6, LSS, LTBP2, LTBP3, LYST, LZTFL1, MAB21L2, MAF, MAK, MAN2B1, MAP3K7, MAPKAPK3, MBD5, MBTPS2, MCEE, MCOLN1, MECR, MED25, MERTK, MFF, MFN2, MFRP, MFSD8, MICALCL, MIP, MIPEP, MKKS, MKS1, MLPH, MMAA, MMAB, MMACHC, MMADHC, MMP1, MMP19, MOCS1, MPDU1, MPLKIP, MRE11, MSMO1, MTTP, MUT, MVK, MYH9, MYO5A, MYO7A, MYOC, NAA10, NBAS, NDP, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEK1, NEK2, NEK4, NEK8, NEU1, NEUROD1, NF1, NHS, NKX2-5, NLRP1, NME8, NMNAT1, NOD2, NODAL, NOTCH2, NPC1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NSD1, NT5C2, NTF4, NUB1, NUS1, NXNL1, NYX, OAT, OCA2, OCRL, OFD1, OPA1, OPA3, OPN1LW, OPN1SW, OPTN, OSMR, OSTM1, OTX2, OVOL2, P3H2, P4HA2, PANK2, PAX2, PAX3, PAX6, PCDH15, PCNA, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDZD7, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGK1, PHGDH, PHYH, PIEZO2, PIGL, PIGT, PIGY, PIK3R1, PIKFYVE, PITPNM3, PITX2, PITX3, PLA2G5, PLG, PLK4, PLOD1, PLOD3, PLP1, PMM2, PNPLA6, POC1B, POGZ, POLA1, POMGNT1, POMGNT2, POMK, POMT1, PORCN, PPT1, PQBP1, PRCD, PRDM13, PRDM5, PRIMPOL, PRKACA, PRKCG, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PRSS56, PTCH1, PTF1A, PTPN11, PVRL3, PXDN, RAB18, RAB27A, RAB28, RAB3GAP1, RAB3GAP2, RAD50, RAI1, RARB, RAX, RAX2, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, RECQL4, REEP6, RERE, RGR, RGS9, RGS9BP, RHO, RIMS1, RIPK4, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPS19, RRM2B, RS1, RSPH4A, RSPH9, RSPO1, SACS, SAG, SALL2, SALL4, SAMD9, SBF2, SC5D, SCARF2, SCN8A, SCO2, SDCCAG8, SDHAF1, SEC23A, SEMA3E, SEMA4A, SERPINH1, SH3PXD2B, SHH, SIL1, SIPA1L3, SIX3, SIX5, SIX6, SLC16A12, SLC24A1, SLC24A5, SLC25A1, SLC25A46, SLC2A1, SLC33A1, SLC38A8, SLC39A5, SLC45A2, SLC4A11, SLC4A4, SLC4A5, SLC4A7, SLC52A2, SLC52A3, SLC7A14, SLITRK6, SLX4, SMCHD1, SMG9, SMOC1, SMPD1, SNAI2, SNRNP200, SNX10, SNX3, SOD1, SON, SOX2, SOX3, SPARC, SPATA7, SPINT2, SPP2, SPTBN2, SRD5A3, SREBF2, ST3GAL5, STIM1, STK38L, STN1, STRA6, STS, STT3B, SUCLA2, SUOX, TACSTD2, TAT, TBC1D20, TBC1D7, TBCE, TBL1XR1, TCF4, TCIRG1, TCOF1, TCTN1, TCTN2, TCTN3, TDRD7, TEAD1, TEK, TENM1, TENM3, TFAP2A, TGFB1, TGFBI, TIMM8A, TIMP3, TINF2, TLR3, TLR4, TMEM107, TMEM114, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM5, TMEM67, TMEM70, TMEM98, TMTC3, TNFSF11, TNPO1, TOPORS, TPP1, TRAF3IP1, TREX1, TRIM32, TRIM37, TRIM44, TRNT1, TRPC1, TRPM1, TRPM2, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TTR, TUB, TUBA8, TUBB, TUBGCP4, TUBGCP6, TULP1, TYR, TYRP1, UBE3B, UBIAD1, UBR1, UCHL1, UNC119, UNC45B, USH1C, USH1G, USH2A, USP9X, VAX1, VCAN, VIM, VPS13B, VSX1, VSX2, WAC, WASF3, WDPCP, WDR19, WDR34, WDR35, WDR36, WFS1, WRN, XPA, XPC, XPNPEP3, YAP1, YME1L1, ZEB1, ZEB2, ZIC3, ZNF408, ZNF423, ZNF469, ZNF513, ZNF592, ZNF644
  • 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

Billing

81434x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

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)