Examines genetic causes of craniofacial conditions; 45 genes included

Genes: ALPL, ALX1, ALX3, ALX4, CDC45, CYP26B1, DHODH, EFNB1, EFTUD2, ERF, FBN1, FGFR1, FGFR2, FGFR3, FREM1, GLI3, IFT122, IFT43, IHH, IL11RA, KRAS, MASP1, MEGF8, MSX2, P4HB, PHF6, PHF8, POLR1C, POLR1D, POR, RAB23, RECQL4, RSPRY1, SEC24D, SKI, TCF12, TCOF1, TGFBR1, TGFBR2, TMCO1, TWIST1, WDR19, WDR35, ZIC1, ZSWIM6

Examines genetic causes of Fanconi anemia; 22 genes included

Genes: BRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, MAD2L2, PALB2, RAD51, RAD51C, RFWD3, SLX4, UBE2T, XRCC2

Examines genetic causes of anemia and other red blood cell disorders; 9 subpanels, 108 total genes included

• Congenital dyserythropoietic anemia: ALAS2, CAD, CDAN1, CDIN1, GATA1, KIF23, KLF1, LPIN2, RACGAP1, SEC23B, VPS4A; Preliminary evidence: COX4I2, MVK, PARP4, PRDX2
• Erythrocytosis: ANKRD26, BPGM, CYB5A, CYB5R3, EGLN1, EPAS1, EPO, EPOR, HBA1, HBA2, HBB, JAK2, PIEZO1, VHL; Preliminary evidence: ACO1, BHLHE41, EGLN2, EGLN3, GFI1B, HIF1A, HIF1AN, HIF3A, KDM6A, PFKM, SH2B3, SOCS3
• Erythropoietic porphyria: ALAS2, FECH, GATA1, UROS
• Hemoglobinopathy: HBA1, HBA2, HBB, HBD
• Megaloblastic anemia: ABCD4, AMN, CUBN, DHFR, HCFC1, HPRT1, LMBRD1, MMACHC, MMADHC, MTHFD1, MTR, MTRR, SLC19A2, SLC46A1, TCN2, UMPS; Preliminary evidence: SLC19A1
• RBC enzymopathy / Hemolytic anemia: AK1, ALDOA, CYB5R3, G6PD, GCLC, GPI, GSR, GSS, HK1, HMOX1, NT5C3A, PC, PFKM, PGK1, PKLR, TPI1; Preliminary evidence: GPX1
• RBC membranopathy / Hemolytic anemia: ABCG5, ABCG8, ANK1, ATP11C, COL4A1, EPB41, EPB42, KCNN4, PIEZO1, RHAG, SLC2A1, SLC4A1, SPTA1, SPTB, XK; Preliminary evidence: GYPC
• Sideroblastic anemia: ABCB7, ALAS2, FECH, GLRX5, HSPA9, LARS2, NDUFB11, PUS1, SLC19A2, SLC25A38, TRNT1, YARS2; Preliminary evidence: HSCB
• Other anemias: ATRX, CP, MTTP, SLC11A2, SLC40A1, TF, TMPRSS6

Examines genetic causes of ion channel-related phenotypes; 34 genes included

Genes: AQP5, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1F, CACNA1G, CACNA1H, CACNA1I, CACNA1S, CFTR, FBN1, FBN2, FBN3, PKD1, SCN10A, SCN11A, SCN1A, SCN1B, SCN2A, SCN2B, SCN3A, SCN3B, SCN4A, SCN4B, SCN5A, SCN7A, SCN8A, SCN9A, SCNN1A, SCNN1B, SCNN1D, SCNN1G

Examines genetic causes of decreased bone mineral density; 50 genes included

Conditions Included: Fragile bones, Osteopenia

Genes: ALPL, ANKH, ANO5, ATP6V0A2, B4GALT7, BMP1, CASR, CLCN5, COL1A1, COL1A2, CREB3L1, CRTAP, CYP27B1, DMP1, ENPP1, FGF23, FKBP10, GNAS, GORAB, IFIH1, IFITM5, LMNA, LRP5, MAFB, MMP2, NOTCH2, P3H1, P4HB, PHEX, PLOD2, PLS3, PPIB, PTH1R, PYCR1, RUNX2, SEC24D, SERPINF1, SERPINH1, SLC34A3, SP7, SPARC, TMEM38B, TNFRSF11A, TNFRSF11B, TREM2, TRPV6, TYROBP, WNT1, XYLT2, ZMPSTE24

Examines genetic causes of bone marrow failure; 230 genes included

Conditions Included: Thrombocytopenia, MDS and acute leukemia, Short telomere syndromes, Diamond-Blackfan anemia and DBA-like hypoplastic anemias, Fanconi anemia, Severe congenital neutropenia, Sideroblastic anemia, Familial MPN, additional genes

Genes: ABCB7, ACD, ACTB, ACTN1, ADA2, AK2, ALAS2, ANKRD26, AP3B1, AP3D1, ATG2B, ATM, ATR, BLM, BLOC1S3, BLOC1S6, BPGM, BRAF, BRCA1, BRCA2, BRD4, BRIP1, CBL, CD40LG, CDIN1, CEBPA, CHEK2, CLPB, CSF3R, CTC1, CXCR2, CXCR4, CYCS, DCLRE1B, DDX41, DHX34, DKC1, DNAJC21, DNASE2, DNMT3A, DUT, EFL1, EGLN1, EIF2AK3, ELANE, EPAS1, EPCAM, EPO, EPOR, ERCC4, ERCC6L2, ETV6, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FLI1, FLNA, FYB1, G6PC3, GATA1, GATA2, GFI1, GFI1B, GINS1, GLRX5, GP1BA, GP1BB, GP9, HAX1, HBB, HDAC8, HOXA11, HYOU1, IKZF1, IKZF5, ITGA2B, ITGB3, ITK, JAGN1, JAK2, KRAS, LAMTOR2, LIG4, LYST, LZTR1, MAD2L2, MAGT1, MAP2K1, MAP2K2, MBD4, MDM4, MECOM, MLH1, MPIG6B, MPL, MRAS, MRTFA, MSH2, MSH6, MYH9, MYSM1, NAF1, NBEAL2, NBN, NF1, NHEJ1, NHP2, NIPBL, NOP10, NRAS, PALB2, PARN, PAX5, PGM3, PMS2, POT1, PRKACG, PTPN11, PUS1, RAB27A, RAC2, RAD21, RAD50, RAD51, RAD51C, RAF1, RBBP6, RBM8A, RFWD3, RIT1, RPA1, RPL11, RPL15, RPL18, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL5, RPL9, RPS10, RPS15A, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, RRAS2, RTEL1, RUNX1, SALL4, SAMD9, SAMD9L, SBDS, SH2B3, SLC19A2, SLC37A4, SLFN14, SLX4, SMARCD2, SMC1A, SMC3, SOS1, SOS2, SRC, SRP54, SRP72, STIM1, STK4, STN1, TAFAZZIN, TBXAS1, TCN2, TERC, TERF2IP, TERT, TET2, THPO, TINF2, TP53, TRNT1, TSR2, TUBB1, UBE2T, USB1, VHL, VPS13B, VPS45, VWF, WAS, WDR1, WIPF1, WRAP53, WRN, XPC, XRCC2, YARS2, ZCCHC8; Preliminary evidence: DBF4, ERBB3, ERG, EXOC3L2, FAAP100, GRHL2, HLTF, MASTL, NPM1, NSMCE3, POLA2, RECQL4, RNF168, RPA2, RPL36, RPS15, RPS27A, SBF2, SLF2, SMC5, SP1, TCIRG1

Examines genetic causes of neuromuscular disorders; 3 subpanels, 254 total genes included

• Myopathy: ACTA1, ADSS1, AGL, AGRN, ALG14, ALG2, AMPD1, ANO5, ASAH1, ATP2A1, B3GALNT2, B4GAT1, BAG3, BIN1, BVES, CACNA1S, CAPN1, CAPN3, CASQ1, CAV3, CAVIN1, CCDC78, CFL2, CHAT, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CLCN1, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, CPT2, CRPPA, CRYAB, DAG1, DCTN1, DES, DMD, DNAJB6, DNM2, DOK7, DPAGT1, DPM1, DPM2, DPM3, DYSF, EMD, FBXO38, FHL1, FKBP14, FKRP, FKTN, FLNC, GAA, GARS1, GBE1, GFPT1, GLE1, GMPPB, GNE, GYS1, HNRNPA1, HNRNPA2B1, HNRNPDL, ISCU, ITGA7, KBTBD13, KCNJ2, KLHL40, KLHL41, KY, LAMA2, LAMP2, LARGE1, LDB3, LIMS2, LMNA, LMOD3, LRP4, MATR3, MEGF10, MICU1, MTM1, MUSK, MYH2, MYH3, MYH7, MYO18B, MYOT, MYPN, NALCN, NEB, ORAI1, PAX7, PFKM, PLEC, PMM2, PNPLA2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PREPL, PYGM, PYROXD1, RAPSN, RXYLT1, RYR1, SCN4A, SELENON, SETX, SGCA, SGCB, SGCD, SGCE, SGCG, SIL1, SLC18A3, SLC52A2, SLC5A7, SNAP25, SPEG, SQSTM1, STAC3, STIM1, SYNE1, SYNE2, SYT2, TAFAZZIN, TCAP, TIA1, TMEM43, TNNI2, TNNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIP4, TTN, UBA1, VCP, VMA21, VRK1
• Charcot-Marie-Tooth disease: AARS1, AIFM1, ATL1, ATP7A, BICD2, BSCL2, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, ELP1, FGD4, FIG4, GAN, GARS1, GDAP1, GJB1, GLA, GNB4, HARS1, HINT1, HSPB1, HSPB8, IGHMBP2, INF2, KIF1A, KIF5A, LITAF, LMNA, LRSAM1, MFN2, MME, MORC2, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, PHKA1, PLEKHG5, PMP22, PRDM12, PRPS1, PRX, RAB7A, REEP1, RETREG1, SBF1, SBF2, SCN11A, SCN9A, SEPTIN9, SH3TC2, SLC12A6, SLC52A2, SLC52A3, SPTLC1, SPTLC2, TFG, TRIM2, TRPV4, TTR, WNK1, YARS1
• Hereditary spastic paraplegia: ABCD1, ALDH18A1, ALS2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ATL1, ATP13A2, B4GALNT1, BSCL2, CYP2U1, CYP7B1, DDHD1, DDHD2, ERLIN2, FA2H, GBA2, GJC2, HSPD1, KIF1A, KIF1C, KIF5A, L1CAM, MTRFR, NIPA1, NT5C2, PLP1, PNPLA6, REEP1, RTN2, SACS, SLC16A2, SLC33A1, SPART, SPAST, SPG11, SPG21, SPG7, TECPR2, TFG, VPS37A, WASHC5, ZFYVE26

Examines genetic causes of diffuse lung disease; 3 subpanels, 137 total genes included

• Mucociliary disorders: BRWD1, CCDC103, CCDC39, CCDC40, CCDC65, CCNO, CFAP298, CFAP300, CFAP74, CFTR, CLXN, DAW1, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH1, DNAH11, DNAH5, DNAH7, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, FOXJ1, GAS2L2, GAS8, HYDIN, LRRC56, MCIDAS, NEK10, NME5, NME8, ODAD1, ODAD2, ODAD3, ODAD4, OFD1, RPGR, RSPH1, RSPH3, RSPH4A, RSPH9, SCNN1A, SCNN1B, SCNN1G, SPAG1, STK36, TP73, TTC12, WFDC2, ZMYND10
• Interstitial lung disease: ABCA3, AP3B1, COPA, CSF2RA, CSF2RB, DKC1, ELMOD2, FLCN, FLNA, FOXF1, GATA2, GBA, HPS1, HPS4, IDUA, MARS, NAF1, NF1, NKX2-1, NPC2, OAS1, PARN, RAB5B, RTEL1, SFTPA1, SFTPA2, SFTPB, SFTPC, SLC34A2, SLC7A7, SMPD1, STAT3, TBX4, TERC, TERT, TINF2, TMEM173, TSC1, TSC2, ZCCHC8
• Pulmonary vascular disorders: ABCC8, ABCC9, ACVRL1, ARHGAP31, ATP13A3, BMPR2, CAV1, DLL4, DOCK6, EIF2AK4, ENG, EOGT, FOXF1, FOXRED1, GDF2, GGCX, KCNK3, KDR, NFU1, NOTCH1, RASA1, RBPJ, SARS2, SMAD4, SMAD9, SOX17, TBX4, TET2, TMEM70; Preliminary evidence: AQP1, BMP10, BMPR1A, BMPR1B, COX5A, FBLN2, KCNJ8 , KLF2, KLK1, NOTCH3, PDGFD, SMAD1

Examines genetic causes of renal disease; 3 subpanels, 338 total genes included

• Glomerular diseases and complement genes: ACE, ACTN4, ADAMTS13, ALG1, ALMS1, ANLN, APOE, APOL1, AQP2, ARHGAP24, ARHGDIA, AVPR2, C1QA, C1QB, C1QC, C1R, C1S, C2, C2CD3, C3, C3AR1, C4A, C4B, C4BPA, C4BPB, C5, C5AR1, C6, C7, C8A, C8B, C8G, C9, CD151, CD2AP, CD46, CD55, CD59, CD93, CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFP, CLU, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ6, COQ8B, CR1, CR2, CRB2, CUBN, DGKE, ELANE, EMP2, ENPP1, F2, FAT1, FCN1, FCN2, FCN3, FGA, FN1, G6PD GLA, GLIS3, GREM1, HNF1B, HNF4A, INF2, ITGA3, ITGAM, ITGAX, ITGB2, ITGB4, LAMB2, LMX1B, MBL2, MEFV, MMACHC, MYH9, MYO1E, NPHS1, NPHS2, NUP107, NUP205, NUP93, OCRL, PAX2, PDSS2, PLCE1, PLCG2, PODXL, REN, SCARB2, SERPING1, SGPL1, SLC17A5, SLC5A1, SLC5A2, SMARCAL1, THBD, TNFRSF1A, TRPC6, VEGFA, VSIG4, VTN, WDR73, WT1
• Disorders of ion transport, nephrolithiasis, and nephrocalcinosis: ACE, ADCY10, AGT, AGTR1, AGXT, APRT, AQP2, ATP6V0A4, ATP6V1B1, ATP7B, AVPR2, BSND, CA2, CACNA1D, CACNA1H, CACNA1S, CASR, CDC73, CLCN5, CLCNKA, CLCNKB, CLDN16, CLDN19, CNNM2, CUL3, CYP11B1, CYP11B2, CYP24A1, DMP1, EGF, EHHADH, ENPP1, FAH, FGF23, FXYD2, GATA3, GRHPR, HNF4A, HOGA1, HPRT1, HSD11B2, KCNJ1, KCNJ10, KCNJ2, KCNJ5, KLHL3, LRP5, MAGED2, NEDD4L, NHERF1, NOTCH2, NR3C2, OCRL, PHEX, PLG, REN, SARS2, SCN4A, SCNN1A, SCNN1B, SCNN1G, SLC12A1, SLC12A3, SLC22A12, SLC2A9, SLC34A1, SLC34A3, SLC3A1, SLC4A1, SLC4A4, SLC7A9, TRPM6, VDR, WNK1, WNK4, XDH
• CAKUT, ciliopathies, tubulointerstitial diseases, and other: ACE, AGT, AGTR1, AHI1, ALG9, ALMS1, ANKS6, APOA1, ARL13B, ARL6, B2M, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BICC1, BMP4, BMPER, CC2D2A, CDC73, CEP104, CEP120, CEP164, CEP290, CEP41, CEP83, CFAP418, CHD1L, CHD7, CLCN5, COLEC10, COLEC11, COQ8A, CPLANE1, CREBBP, CSPP1, CTNS, DACH1, DCDC2, DHCR7, DHTKD1, DLC1, DLG1, DNAJB11, DSTYK, DYNC2H1, E2F3, EYA1, FAH, FAN1, FAT1, FGA, FGF20, FGFR1, FOXP1, FRAS1, FREM1, FREM2, GANAB, GATA3, GDNF, GLI3, GLIS2, GLIS3, GPC3, GRIP1, GSN, HNF1B, IFT122, IFT140, IFT172, IFT27, IFT43, IFT74, IFT80, INPP5E, INVS, IQCB1, ITGA8, ITGB2, JAG1, KCTD1, KATNIP, KIAA0586, KIF12, KIF14, KIF7, LMNA, LRP5, LYZ, LZTFL1, MASP1, MASP2, MEFV, MKKS, MKS1, NEIL1, NEK1, NEK8, NLRP3, NOTCH2, NPHP1, NPHP3, NPHP4, OFD1, PAX2, PBX1, PDE6D, PKD1, PKD2, PKHD1, PMM2, REN, RET, ROBO2, RPGRIP1L, SALL1, SALL4, SARS2, SDCCAG8, SEC61A1, SEMA3E, SIX1, SIX2, SIX5, SLC2A2, SLC41A1, SLIT2, SOX17, SRGAP1, TBX18, TCTN1, TCTN2, TCTN3, TFAP2A, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TNXB, TRAP1, TRIM32, TSC1, TSC2, TTC21B, TTC8, TTR, UMOD, UPK3A, UPK3B, VHL, VIPAS39, VPS33B, WDPCP, WDR19, WDR35, WNT4, WT1, XPNPEP3, ZMPSTE24, ZNF423

Examines genetic causes of short-rib polydactyly and skeletal ciliopathies; 23 genes included

Conditions Included: Short-rib polydactyly, Skeletal ciliopathies

Genes: CEP120, CSPP1, DYNC2H1, EVC, EVC2, FGFR1, FGFR2, FGFR3, IFT122, IFT140, IFT172, IFT80, KIAA0586, NEK1, PAPSS2, SLC26A2, SOX9, TCTN3, TTC21B, WDR19, WDR34, WDR35, WDR60

Examines genetic causes Stickler syndrome and 22q11 deletion syndrome; 10 genes and targeted analysis for 22q11 deletion included

Genes: COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, LOXL3, LRP2, VCAN, TBX1 (for dosage only)

Examines genetic causes of short telomere disorders; 15 genes included

Genes: ACD, CTC1, DKC1, NAF1, NHP2, NOP10, PARN, POT1, RTEL1, STN1, TERC, TERT, TINF2, WRAP53, ZCCHC8

• TeloZoom does not include telomere length measurement. Telomere length testing by flowFISH is offered through the Johns Hopkins Genomics Molecular Diagnostics Laboratory.
• Other testing relevant to the valuation of inherited pulmonary fibrosis: PulmZoom