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, 96 total genes included

• Congenital dyserythropoietic anemia: ALAS2, CAD, CDAN1, CDIN1, GATA1, KIF23, KLF1, LPIN2, RACGAP1, SEC23B, VPS4A; Preliminary evidence: COX4I2, MVK, PARP4, PRDX2
• Erythrocytosis: BPGM, EGLN1, EPAS1, EPO, EPOR, HBA1, HBA2, HBB, JAK2, VHL; Preliminary evidence: SH2B3
• 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; 228 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, RECQL4, RNF168, RPL36, RPS15, RPS27A, SBF2, SLF2, SMC5, SP1, TCIRG1

Examines genetic causes of neuromuscular disorders; 3 subpanels, 251 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, ISPD, 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, 337 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, 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