Achromatopsia NGS 6 ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H ARMS2, CFH Sequencing PAX6 MLPA 1 PAX6

Transcription

1 Asper Ophthalmics Achromatopsia 6 ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H 05 Age-related Macular Degeneration 5 ABCA4, ARMS2, C2, C3, C9, CFB, CFH, CFI, 995* CST3, CX3CR, ERCC6, FBLN5, HMCN, HTRA, RAX2 2/3 ARMS2, CFH 87 Aniridia PAX6 MLPA PAX6 773 Anophthalmia/ Microphthalmia/ Coloboma/Anterior Segment Dysgenesis 35 ABCB6, ALDHA3, ASPH, BCOR, B3GLCT, BMP4, CHD7, COL4A, CYPB, EYA, FOXC, FOXE3, GDF3, GDF6, HCCS, HESX, HMGB3, LTBP2, MAB2L2, MFRP, OTX2, PAX6, PITX2, PRSS56, RARB, RAX, SIX6, SLC38A8, SMOC, SOX2, STRA6, TENM3, VAX, VSX, VSX2 34 Autosomal Dominant Retinitis Pigmentosa Autosomal Recessive Retinitis Pigmentosa by by CA4, CRX, FSCN2, IMPDH, KLHL7, NR2E3, NRL, PRPF3, PRPF8, PRPF3, PRPH2, RHO, ROM, RP, RP9, TOPORS AIPL, BEST, CA4, CRX, FSCN2, GUCAB, IMPDH, KLHL7, NR2E3, NRL, PRKCG, PRPF3, PRPF6, PRPF8, PRPF3, PRPH2, RDH2, RGR, RHO, ROM, RP, RP9, RPE65, SEMA4A, SNRNP200, TOPORS MLPA 4 IMPDH, PRPF3, RHO, RP ABCA4, AIPL, CERKL, CLRN, CNGA, CNGA3, CNGB, CNGB3, CRB, EYS, GRK, IMPG2, LRAT, MERTK, NR2E3, PDE6A, PDE6B, PROM, RBP3, RDH2, RGR, RHO, RLBP, RP, RPE65, SAG, TULP, USH2A ABCA4, AIPL, ARL6, BEST, C2orf7, C8ORF37, CA4, CERKL, CLRN, CNGA, CNGB, CRB, CRX, DHDDS, EYS, FAM6A, FLVCR, FSCN2, GUCAB, IDH3B, IMPDH, IMPG2, LRAT, MAK, MERTK, NR2E3, NRL, PDE6A, PDE6B, PDE6G, PRCD, PROM, PRPF3, PRPF6, PRPF8, PRPF3, PRPH2, RBP3, RDH2, RGR, RHO, RLBP, ROM, RP, RP2, RP9, RPE65, RPGR (ORF5 excluded), SAG, SEMA4A, SPATA7, TOPORS, TTC8, TULP, USH2A, ZNF53 MLPA 7 EYS, IMPDH, PRPF3, RHO, RP, RP2, RPGR RPE65 55 Vaksali 7A, 5040 Tartu, Estonia

2 Disease/Condition name Method No No of of genes Bardet-Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson- Forssman-Lehmann Syndrome, Alstrom Syndrome, Albright Hereditary Osteodystrophy by 6 Asper Ophthalmics ALMS (excluding exon 8), ARL6, BBS, BBS2, BBS4, BBS5, BBS7, BBS9, BBS0, BBS2, GNAS, MKKS, MKS, PHF6, TRIM32, TTC8 22 ALMS, ARL6, BBS, BBS2, BBS4, BBS5, BBS7, BBS9, BBS0, BBS2, CCDC28B, CEP290, GNAS, 34 LZTFL, MKS, MKKS, PHF6, SDCCAG8, TMEM67, TRIM32, TTC8, WDPCP 450 Cataract 44 AGK, BCOR, BFSP, BFSP2, CHMP4B, CRYAA, CRYAB, CRYBA, CRYBA4, CRYBB, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP, EPHA2, EYA, FTL, FYCO, GALK, GCNT2, GJA, GJA3, GJA8, HSF4, LIM2, LSS, MAF, MIP, NHS, P3H2, PAX6, PITX3, PXDN, SIPAL3, SIL, SIX6, SLC6A2, TDRD7, UNC45B, VIM, VSX2 34 Choroideremia CHM 773 MLPA CHM Cone-Rod Dystrophy 32 ABCA4, ADAM9, AIPL, BEST, CABP4, CAC- NAF, CACNA2D4, CDHR, CERKL, CNGB3, CNNM4, C8ORF37, CRX, GNAT2, GUCAA, GUCY2D, KCNV2, PDE6C, PDE6H, PITPNM3, PROM, PRPH2, RAB28, RAX2, RDH5, RGS9, RGS9BP, RIMS, RPGR (ORF5 excluded), RPGRIP, SEMA4A, UNC9 34 Congenital Stationary Night Blindness 3 CABP4, CACNAF, CHM, GNAT, GRK, GRM6, NYX, PDE6B, RDH5, RHO, SAG, SLC24A, TRPM 05 Corneal Dystrophy 20 CHST6, COL5A, COL7A, COL8A2, CYP4V2, DCN, GSN, KRT3, KRT2, LOXHD, PIKFYVE, PRDM5, SLC4A, SOD, ZEB, ZNF469, TAC- STD2, TGFBI, UBIAD, VSX Glaucoma 9 ACVR, ASB0, BEST, CANT, COL8A, CYPB, FOXC, LMXB, LOXL, LTBP2, MYOC, NTF4, OPTN, PAX6, PITX2, PITX3, SBF2, SLC4A4, WDR Leber Congenital Amaurosis by 5 20 AIPL, CEP290, CRB, CRX, GUCY2D, IQCB, LCA5, LRAT, MERTK, RD3, RDH2, RPE65, RPGRIP, SPATA7, TULP AIPL, CABP4, CEP290 (intronic position c a>g included), CRB, CRX, GDF6, GUCY2D, IMPDH, IQCB, KCNJ3, LCA5, LRAT, NMNAT, OTX2, RD3, RDH2, RPE65, RPGRIP, SPATA7, TULP MLPA 8 AIPL, CEP290, CRB, CRX, GUCY2D, RDH2, RPE65, RPGRIP 806 Vaksali 7A, 5040 Tartu, Estonia

3 Asper Ophthalmics Leber Hereditary Optic Neuropathy RFLP 3/3 MT-ND, MT-ND4, MT-ND6 76 Norrie Disease NDP 262 Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome 7 AP3B, BLOCS3, BLOCS6, DTNBP, GPR43, HPS, HPS3, HPS4, HPS5, HPS6, LRMDA, LYST, OCA2, SLC24A5, SLC45A2, TYR, TYRP MLPA 3 GPR43, OCA2, TYR Optic Atrophy by OPA OPA, OPA3, TMEM26A 030 MLPA OPA Papillorenal Syndrome PAX2 525 Retinoblastoma MLPA RB RB 960 Stargardt Disease ABCA ABCA4, CNGB3, ELOVL4, PROM 030 MLPA ABCA4 Usher Syndrome by 9 ADGRV (GPR98), CDH23, CLRN, MYO7A, PCDH5, USH2A, USHC, USHG, WHRN (DFNB3) ABHD2, ADGRV (GPR98), CDH23, CIB2, CLRN, COL4A6, DSPP (excluding exon 5), GIPC3, HARS, KARS, LHFPL5, LOXHD, MYO7A, PCDH5, PDZD7, TNC, USH2A, USHC, USHG, WHRN (DFNB3) 05 MLPA USH2A MLPA PCDH5 Vitelliform Macular Dystrophy BEST MLPA 2 Vitreoretinopathy 9 BEST, PRPH2 BEST, PRPH2 BEST, CAPN5, COL2A, COL9A, COL9A2, COL9A3, COLA, COLA2, COL8A, FZD4, KCNJ3, KIF, LRP5, NDP, NR2E3, RS, TSPAN2, VCAN, ZNF Vaksali 7A, 5040 Tartu, Estonia

4 Asper Ophthalmics X-Linked Retinitis Pigmentosa by,, 2 3 MLPA 2 RP2, RPGR RP2, RPGR (ORF5 included) RPGR (ORF5 region only) OFD, RP2, RPGR (ORF5 included) X-Linked Retinoschisis RS 395 Eye Diseases genes associated with different eye diseases 567 Whole Exome (WES) Whole Genome (WGS) * Clinical interpretation is not available Service includes DNA extraction Genotyping Bioinformatic analysis of detected variants Detected variants available in Excel format (on request) Validation of phenotype/diagnosis associated known or possibly pathogenic variants Clinical and biological interpretation Results delivery by registered mail (on request) TAT 2-9 weeks, excl. WES and WGS 5 weeks Online ordering, specimen requirements and shipping instructions are available at Vaksali 7A, 5040 Tartu, Estonia

5 Ashkenazi Jewish Diseases Carriership Cystic Fibrosis Folate-Dependent Neural Tube Defects by TruSightTM Inherited Disease 3 33 Asper Reprogenetics ABCC8, AGL, ASPA, BBS2, BCKDHB, BLM, BRCA, BRCA2, CFTR, CLRN, DHDDS, DLD, FAM6A, F, FANCC, GBA, GJB2, G6PC, HEXA, IKBKAP, LCA5, LDLR, MAK, MCOLN, MEFV, NEB, PCDH5, SERPINA, SMPD, TMEM26, TORA ABCC8, AGL, ASPA, BCKHDB, BLM, BRCA, BRCA2, CFTR, CLRN, CYP2A2, DLD, F, FANCC, FKTN, GBA, GJB2, G6PC, HEXA, IKBKAP, LCA5, LDLR, LRRK2, MCOLN, MEFV, MSH2, MSH6, NEB, PCDH5, SERPINA, SMN, SMPD, TMEM26, TORA genes associated with inherited diseases Fragile X Syndrome Repeat FMR 262 Expansion/ Fragment Length Analysis CFTR MLPA CFTR mutation analysis Male Factor Infertility 9 CFTR, DDX25, DNAH5, DNAH, DNAI, ESR2, 624 FSHB, GNRHR, INSL3, NLRP4, PRDM9, PRM, PRM2, PRM3, RBMXL2, RXFP2, TEKT2, USP26, by, PCR UTP4C 47XXY AZF deletions by 9 MTHFR CFTR, DDX25, DNAH5, DNAH, DNAI, ESR2, FSHB, GNRHR, INSL3, NLRP4, PRDM9, PRM, PRM2, PRM3, RBMXL2, RXFP2, TEKT2, USP26, UTP4C Maternal Cell Contamination PCR 47XXY N/A 87 PCR 3/8 (+9 for AZF deletions 87 extended analysis) Fragment Analysis NA/6 87 Whole Exome (WES) Whole Genome (WGS) Vaksali 7A, 5040 Tartu, Estonia

6 Asper Reprogenetics * Clinical interpretation is not available Service includes DNA extraction Genotyping Bioinformatic analysis of detected variants Detected variants available in Excel format (on request) Validation of phenotype/diagnosis associated known or possibly pathogenic variants Clinical and biological interpretation Results delivery by registered mail (on request) TAT 2-9 weeks, excl. WES and WGS 5 weeks Online ordering, specimen requirements and shipping instructions are available at Vaksali 7A, 5040 Tartu, Estonia

7 Asper Oncogenetics Breast and Ovarian/ Endometrial Cancer 2 23 BRCA, BRCA2 MLPA 2 BRCA, BRCA MLPA 2 BRCA, BRCA2 803 ATM, BARD, BRCA, BRCA2, BRIP, CDH, CHEK2, MEN, MLH, MREA, MSH2, MSH6, MUTYH, NBN, PALB2, PTCH, PTEN, RAD50, RAD5C, RAD5D, STK, TP53, XRCC Cancer Predisposition 02 AIP, ALK, APC, ATM, BAP, BARD, BLM, BMPRA, BRCA, BRCA2, BRIP, BUBB, CDC73, CDH, CDK4, CDKNC, CDKN2A, CEBPA, CEP57, CHEK2, CYLD, DDB2, DICER, DIS3L2, EGFR, EPCAM, ERCC2, ERCC3, ERCC4, ERCC5, EXT, EXT2, EZH2, FANCA, FANCB, FANCC, FANCD2 (excluding exon 5, 6), FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GATA2, GPC3, HNFA, HOXB3, HRAS, KIT, MAX, MEN, MET, MITF, MLH, MREA, MSH2, MSH6, MUTYH, NBN, NF, NF2, NSD, NTHL, PALB2, PHOX2B, POLD, PRF, PRKARA, PRSS, PTCH, PTEN, RAD50, RAD5C, RAD5D, RB, RECQL4, RET, RHBDF2, RUNX, SBDS, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCB, STK, SUFU, TMEM27, TP53, TSC, TSC2, VHL, WRN, WT, XPA, XPC, XRCC2 05 MLPA RB MLPA WT MLPA 2 NF, NF2 070 Familial Adenomatous Polyposis APC 773 MLPA APC Fanconi Anemia Lynch Syndrome Melanoma 7 BRCA2, BRIP, ERCC4, FANCA, FANCB, 05 FANCC, FANCD2 (excluding exons 5, 6), FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, RAD5C, SLX4, XRCC2 MLPA 4 FANCA, FANCB, FANCD2, PALB2 070 MLH MSH2 MSH6 3 MLH, MSH2, MSH6 030 MLPA 2 MLH, MSH2 MLPA MSH6 3 CDK4, CDKN2A, MITF 070 MLPA 4 CDK4, CDKN2A, CDKN2B, MITF Vaksali 7A, 5040 Tartu, Estonia

8 Asper Oncogenetics Microsatellite instability MUTYH-associated Polyposis Nijmegen Breakage Syndrome Fragment Analysis MLPA NA/6 / MUTYH MUTYH RFLP /2 MUTYH 70 NBN NBN Polyposis Syndromes 6 MLPA 3 MLPA APC, BMPRA, MUTYH, PTEN, SMAD4, STK BMPRA, PTEN, SMAD4 STK 030 Thyroid Cancer 0 APC, CDC73, DICER, MEN, PRKARA, PTEN, 05 SDHB, SDHD, RET, TP53 MLPA 3 SDHB, SDHC, SDHD MLPA MEN Whole Exome (WES) Whole Genome (WGS) Service includes DNA extraction Genotyping Bioinformatic analysis of detected variants Detected variants available in Excel format (on request) Validation of phenotype/diagnosis associated known or possibly pathogenic variants Clinical and biological interpretation Results delivery by registered mail (on request) TAT 2-9 weeks, excl. WES and WGS 5 weeks Online ordering, specimen requirements and shipping instructions are available at Vaksali 7A, 5040 Tartu, Estonia

9 Asper Cardiogenetics Apolipoprotein C-II Deficiency APOC2 267 Arrhythmia 40 ABCC9, AKAP9, ANK2, CACNAC, CACNA2D, CACNB2, CASQ2, CAV3, DES, DSC2, DSG2, DSP, GJA5, GPDL, HCN4, JUP, KCNA5, KCND3, 338 KCNE, KCNE2, KCNE3, KCNE5 (KCNEL), KCNH2, KCNJ2, KCNJ8, KCNQ, LMNA, NKX2-5, NPPA, PKP2, PLN, RYR2, SCNB, SCN2B, SCN3B, SCN4B, SCN5A, SNTA, TGFB3, TMEM43 Arrhythmogenic Right Ventricular Dysplasia/ Cardiomyopathy 4 CTNNA3, DES, DSG2, DSC2, DSP, JUP, LDB3, 070 LMNA, PKP2, PLN, RYR2, TGFB3, TMEM43, TTN MLPA 2 DSP, PKP2 Brugada Syndrome 5 CACNAC, CACNA2D, CACNB2, GPDL, HCN4, KCND3, KCNE3, KCNEL, KCNJ8, RANGRF, SCN5A, SCNB, SCN2B, SCN3B, TRPM4 34 MLPA SCN5A Catecholaminergic Polymorphic Ventricular Tachycardia 6 ANK2, CALM, CASQ2, KCNJ2, RYR2, TRDN 070 Dilated Cardiomyopathy 44 ABCC9, ACTC, ACTN2, ANKRD, BAG3, CSRP3, CRYAB, DES, DMD, DNAJC9, DOLK, DSC2, DSG2, DSP, EMD, EYA4, GATAD, JUP, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEXN, PKP2, PLN, RAF, RBM20, SCN5A, SGCD, TAZ, TBX20, TCAP, TMPO, TNNC, TNNI3, TNNT2, TPM, TTN, TTR, VCL 070 MLPA 2 BAG3, TNNT2 Familial Hypercholesterolemia Familial Lipoprotein Lipase Deficiency Familial Thoracic Aortic Aneurysm and Dissection and Related Syndromes 4 APOB, LDLR, LDLRAP, PCSK9 030 MLPA LDLR LPL 267 MLPA LPL 2 ACTA2, COL3A, COL5A, FBN, MYH, MYLK, 288 SLC2A0, SMAD3, TGFB2, TGFBR, TGFBR2, TGFBR3 MLPA 3 FBN, TGFBR, TGFBR2 806 Hyperlipoproteinemia, type 3 Hyperlipoproteinemia, type 5 /2 APOE 87 APOEA5 267 Hyperlipidemia 6 APOA5, APOC2, GPD, GPIHBP, LMF, LPL 070 Vaksali 7A, 5040 Tartu, Estonia

10 Hypertrophic Cardiomyopathy Lecithin Cholesterol Acyltransferase Deficiency Pulmonary Arterial Hypertension Statin-Induced Myopathy Asper Cardiogenetics Noonan Syndrome 3 BRAF, CBL, HRAS, KAT6B, KRAS, MAP2K, 05 MAP2K2, NRAS, PTPN, RAF, SHOC2, SOS, SPRED / SLCOB 87 2 ACVRL, BMPR2, BMPRB, CAV, EIF2AK4, 338 ENG, FOXF, GDF2, KCNA5, KCNK3, SMAD4, SMAD9 MLPA 2 ACVRL, BMPR2 Short QT Syndrome 5 CACNAC, CACNB2, KCNH2, KCNJ2, KCNQ 070 Tangier Disease ABCA 070 Thrombophilia RFLP 3/4 F2, F5, MTHFR 87 Whole Exome (WES) 28 ACTC, ACTN2, CALR3, CAV3, CSRP3, GLA, JPH2, LAMP2, LDB3, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, PLN, PRKAG2, SLC25A4, TCAP, TNNC, TNNI3, TNNT2, TPM, TTR, VCL 34 MLPA 3 MYBPC3, MYH7, TNNT2 806 LCAT 267 Long QT Syndrome 4 AKAP9, ANK2, CACNAC, CALM, CAV3, 05 KCNE, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ, SCN5A, SCN4B, SNTA MLPA 2 KCNH2, KCNQ Whole Genome (WGS) Service includes DNA extraction Genotyping Bioinformatic analysis of detected variants Detected variants available in Excel format (on request) Validation of phenotype/diagnosis associated known or possibly pathogenic variants Clinical and biological interpretation Results delivery by registered mail (on request) TAT 2-9 weeks, excl. WES and WGS 5 weeks Online ordering, specimen requirements and shipping instructions are available at Vaksali 7A, 5040 Tartu, Estonia

11 Alzheimer Disease Amyotrophic Lateral Sclerosis Autism Spectrum Disorders Charcot-Marie-Tooth Disease Congenital Myopathy and Distal Myopathy Asper Neurogenetics /2 APOE ALS2, ANG, CHCHD0, CHMP2B, ERBB4, FIG4, FUS, MATR3, OPTN, PFN, SETX, SIGMAR, SOD, SPART, SPG, SQSTM, TARDBP, TBK, TUBA4A, UBQLN2, VAPB, VCP ADNP, ADSL, ANKRD, ARX, AVPRA, BRAF, CACNAC, CDKL5, CHD2, CHD7, CNTNAP2, CREBBP, DHCR7, EHMT, EN2, FOXG, FOXP, 338 FOXP2, GABRB3, HDAC8, HOXA, HPRT, MAGEL2, MECP2, MED2, MID, NHS, NIPBL, NLGN3, NLGN4X, NRXN, NSD, NTNG, OXTR, PCDH9, PDE8B, POGZ, PTCHD, PTEN, PTPN, PQBP, RAD2, RAI, RELN, RPL0, SCNA, SCN2A, SETD2, SHANK2, SHANK3, SLC6A4, SLC6A8, SLC9A9, SMC3, SMCA, TBLXR, TCF4, TSC, TSC2, UBE3A, VPS3B, ZEB2 67 AARS, AIFM, ARSA, BSCL2, C2orf65, COX6A, 34 DCTN, DHTKD, DNAJB2, DNM2, DYNCH, EGR2, FGD4, FIG4, GAN, GARS, GDAP, GJB, GNB4, HARS, HINT, HK, HSPB, HSPB3, HSPB8, IGHMBP2, INF2, KARS, KIFA, KIF5A, KIFB, LITAF, LMNA, LRSAM, MARS, MED25, MFN2, MORC2, MPZ, MTMR2, NAGLU, NDRG, NGF, PDK3, PLEKHG5, PMP22, POLG, PRPS, PRX, RAB7A, REEP, SBF, SBF2, SCN9A, SETX, SH3TC2, SLC5A7, SPTLC, SPTLC2, SURF, TFG, TRIM2, TRPV4, TYMP, VCP, WNK, YARS MLPA 2 KIFB, PMP22 MLPA GJB MLPA 2 MFN2, MPZ MLPA 5 GARS, HSPB, HSBP8, RAB7A, SPTLC MLPA 7 EGR2, GDAP, MTMR2, NEFL, SBF2, SH3TC2, PRX 42 ACTA, ANO5, BAG3, BIN, CAV3, CCDC78, CFL2, 338 CNTN, COL6A, COL6A3, COL2A, CRYAB, DES, DNAJB6, DNM2, DYSF, FHL, FLNC, GNE, KLHL40, KLHL4, LDB3, LMOD3, MATR3, MEGF0, MICU, MTM, MTMR4, MYF6, MYH7, MYOT, NEB, RYR, SELENON, STAC3, SQSTM, TIA, TNNT, TPM2, TPM3, TTN, VCP MLPA 2 MTM, MTMR Cornelia de Lange Syndrome Craniosynostosis 9 AFF4, ANKRD, HDAC8, KMT2A, NIPBL, RAD2, 030 SMC3, SMCA, TAF6 MLPA NIPBL, 7 AFF4, ANKRD, HDAC8, KMT2A, NIPBL, RAD2, 05 SMC3, SMCA, TAF6 MLPA TWIST Vaksali 7A, 5040 Tartu, Estonia

12 Asper Neurogenetics Dystonia 39 ACTB, ADCY5, ANO3, ARSA, ATM, ATPA3, 34 ATP7B, CACNAB, CIZ, COL6A3, DRD2, GCDH, GCH, GNAL, GNAO, HPCA, KCNMA, KCTD7, PANK2, PLA2G6, PNKD, PRKN, PRKRA, PRRT2, RELN, SGCE, SLC2A, SLC6A3, SLC25A, SLC30A0, SLC39A4, SPR, TAF, TBCE, TH, THAP, TIMM8A, TORA, TUBB4A MLPA 7 ATPA3, GCH, PRKRA, SGCE, TH, THAP, TORA 70 Fragile X Syndrome Epilepsy 27 AARS, ADAR, ADSL, ALDH7A, ALG3, ALG3, ARHGEF9, ARX, ATPA2, ATPA3, ATP6AP2, ATRX, BRAT, CACNAA, CACNAD, CACNAH, CACNB4, CASK, CDKL5, CERS, CHD2, CHRNA2, CHRNA4, CHRNB2, CLCN2, CPA6, CSTB, DEPDC5, DNM, DOCK7, EEFA2, EFHC, EPM2A, FGF2, 546 FLNA, FOXG, GABRA, GABRB3, GABRD, GABRG2, GAMT, GATM, GNAO, GOSR2, GPHN, GRIN, GRIN2A, GRIN2B, HCN, HUWE, ITPA, IQSEC2, KCNA, KCNA2, KCNB, KCNC, KCNMA, KCNQ2, KCNQ3, KCNT, KCTD7, KIAA2022, KIFA, KIF5C, LGI, MBD5, MCCC, MECP2, MEF2C, MOCS, MOCS2, MTOR, NECAP, NHLRC, NRXN, PCDH9, PIK3R2, PIGA, PIGO, PIGT, PLCB, PNKP, PNPO, POLG, PRICKLE, PRRT2, PURA, RELN, ROGDI, SCARB2, SCNA, SCNB, SCN2A, SCN8A, SERPINI, SIK, SLC2A5, SLC3A5, SLC25A22, SLC2A, SLC35A2, SLC35A3, SLC6A, SLC6A8, SLC9A6, SMARCA2, SNIP, SPATA5, SPTAN, SRPX2, ST3GAL3, ST3GAL5, STXB, STXBP, SYN, SYNGAP, SYP, SZT2, TBCD24, TCF4, TSC, TSC2, TUBB3, UBE3A, WDR45, WWOX, ZDHHC9 MLPA CHRNA4, CHRNB2, EPM2A, KCNQ, KCNQ3, 334 NHLRC, PCDH9, SCNA, SLC2A, STXBP, WWOX Repeat Expansion/ Fragment FMR 262 Length Analysis Frontotemporal Dementia Hereditary Spastic Paraplegia 5 CHMP2B, GRN, MAPT, TARDBP, 05 PSEN MLPA 3 CRHR, GRN, MAPT 34 ATL, AP4B, AP4E, AP4M, AP4S, AP5Z, B4GALNT, BSCL2, CYP7B, CYP2U, DDHD2, ERLIN2, FA2H, GBA2, GJC2, HSPD, KIFA, KIF5A, LCAM, NIPA, PLP, PNPLA6, REEP, RTN2, SLC6A2, SPAST, SPG7, SPG, SPG20, SPG2, TECPR2, VPS37A, WASHC5, ZFYVE26 34 / MT-ATP6 87 MLPA 5 ATL, NIPA, SPAST, SPG7, REEP 806 Vaksali 7A, 5040 Tartu, Estonia

13 Asper Neurogenetics Joubert Syndrome 29 AHI, ARL3B, B9D, B9D2, C5orf42, CC2D2A, CEP290, CEP4, CEP04, CSPP, INPP5E, KIF7, KIAA0556, KIAA0586, MKS, NPHP, OFD, PDE6D, RPGRIPL, TCTN, TCTN2, TCTN3, TMEM38, TMEM26, TMEM23, TMEM67, TMEM237, TTC2B, ZNF423 Leukodystrophy and Leukoencephalopathy, 40 ABCD, ADAR, AIMP, ARSA, ASPA, CLCN2, CSFR, DARS2, EARS2, EIF2B, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FAM26A, FOLR, GALC, GFAP, GJC2, HEPACAM, HSPD, HTRA, L2HGDH, LMNB, MLC, NOTCH3, PLP, POLR3A, POLR3B, PSAP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD, SCP2, SOX0, SUMF, TREX, TUBB4A MLPA 7 ABCD, ASPA, L2HGDH, LMNB, MLC, 070 NOTCH3, PLP Limb-Girdle Muscular Dystrophy Menkes Disease 27 ANO5, CAPN3, CAV3, DAG, DES, DNAJB6, 338 DYSF, FKTN, GMPPB, HNRNPDL, ISPD, LMNA, MYOT, PLEC, POMGNT, POMK, POMT, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TRAPPC, TRIM32, TTN MLPA 2 ANO5, CAPN3, DYSF, FKRP, LCAV3, MNA, 343 MYOT, SGCA, SGCB, SGCD, SGCG, ZMPSTE24 ATP7A 030 MLPA ATP7A Microcephaly 24 Mitochondrial Diseases AP4M, ASPM, CASC5, CASK, CDK5RAP2, CENPJ, CEP63, CEP35, CEP52, EFTUD2, IER3IP, KIF, MCPH, NDE, NHEJ, PAFAHB, PCNT, PNKP, POMT, SLC25A9, STIL, TUBB2B, TUBGCP6, WDR62 37 Mitochondrial Genome 030 / 33 AARS2, ABCB7, ACAD9, ACADL, ACADM, 34 ACADS, ACADVL, AFG3L2, AIFM, ALAS2, APTX, ATPAF2, ATP5FE, AUH, BCSL, BOLA3, C2orf65, CISD2, COA5, COQ2, COQ6, COQ9, COQ8A, COX0, COX5, COX6B, CPTA, CPT2, DARS2, DGUOK, DLAT, DLD, DNAJC9, DNML, ETFA, ETFB, ETFDH, ETHE, FASTKD2, FBP, FH, FOXRED, G6PC, GAMT, GATM, GFER, GFM, GYS2, HARS2, HLCS, HADH, HADHA, HSPD, ISCU, LRPPRC, MFN2, MPV7, MRPS6, MRPS22, MTFMT, MTPAP, NDUFA, NDUFA0, NDUFA, NDUFA2, NDUFA2, NDUFAF, NDUFAF2, NDU- FAF3, NDUFAF4, NDUFAF5, NDUFB3, NDUFB9, NDUFS, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV, NDUFV2, NFU, NUBPL, OPA, OPA3, PC, PDHA, PDHB, PDHX, 34 Vaksali 7A, 5040 Tartu, Estonia

14 Mitochondrial Diseases Asper Neurogenetics 33 PDP, PDSS, PDSS2, PDX, POLG, POLG2, PUS, RARS2, REEP, RRM2B, SARS2, SCO, SCO2, SDHA, SDHAF, SETX, SLC9A3, SLC25A20, SLC25A3, SLC25A4, SLC6A8, SLC37A4, SOD, SPG7, SUCLA2, SUCLG, SURF,TACO, TAZ, TIMM8A, TK2, TMEM26A, TMEM70, TRMU, TSFM, TTC9, TUFM, TWNK, TYMP, UQCRB, UQCRQ, WFS, YARS2 34 MLPA 0 DGUOK, MPV7, POLG, POLG2, RRM2B, 70 SLC25A4, SUCLA2, SUCLG, TK2, TWNK Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS Syndrome) / MT-TL 87 Neurodegeneration with Brain Iron Accumulation 0 ATP3A2, COASY, C9orf2, CP, DCAF7, FA2H, 05 FTL, PANK2, PLA2G6, WDR45 MLPA 2 PANK2, PLA2G6 Parkinson s Disease 22 ADHC, ATP3A2, ATP6AP2, ATXN2, DNAJC6, EIF4G, FBXO7, GBA, GIGYF2, HTRA2, LRRK2, MAPT, PARK7, PINK, PLA2G6, PRKN, SLC6A3, SNCA, SNCB, TBP (excluding exon 3), UCHL, VPS35 34 MLPA 7 GCH, LRRK2, PARK7, PINK, PRKN, SNCA, 70 UCHL Short Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency Smith-Lemli-Opitz Syndrome ACADS 55 DHCR7 525 Spinocerebellar Ataxias 66 ABCB7, ABHD2, ACO2, ADCK3 (COQ8A), 34 AFG3L2, ANO0, APTX, ATCAY, ATM, ATP8A2, CASK, CCDC88C, CLCN2, CLN5, C0orf2 (TWNK), CWF9L, CYP27A, DARS2, FXN, GOSR2, GRM, DNMT, EEF2, ELOVL4, ELOVL5, FGF4, FLVCR, ITPR, KCNC3, KCND3, KCNJ0, LAMA, NOP56, NPC, NPC2, OPHN, PDYN, PHYH, PNKP, PNPLA6, POLG, PRKCG, RUBCN (KIAA0226), PTFA, RNF26, SACS, SETX, SIL, SLC9A, SLC9A6, SLC52A2, SNX4, SPTBN2, STUB, SYNE, SYT4, TTBK2, TDP, TGM6, TMEM240, TPP, TTPA, TUBB4A, WFS, WWOX, ZNF592 Repeat Expansion Analysis 2 ATXN, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN0, ATN, BEAN, CACNAA, FXN, NOP56, PPP2R2B, TBP Tuberous Sclerosis 2 TSC, TSC2 803 MLPA 2 TSC, TSC Vaksali 7A, 5040 Tartu, Estonia

15 Asper Neurogenetics Very Long Chain Acyl-Coenzyme A Dehydrogenase (VLCAD) Deficiency Wilson Disease ACADVL 55 MLPA ACADVL ATP7B 773 MLPA ATP7B Whole Exome (WES) Whole Genome (WGS) Service includes DNA extraction Genotyping Bioinformatic analysis of detected variants Detected variants available in Excel format (on request) Validation of phenotype/diagnosis associated known or possibly pathogenic variants Clinical and biological interpretation Results delivery by registered mail (on request) TAT 2-9 weeks, excl. WES and WGS 5 weeks Online ordering, specimen requirements and shipping instructions are available at Vaksali 7A, 5040 Tartu, Estonia

16 Asper Otogenetics Alport Syndrome 3 COL4A3, COL4A4, COL4A5 030 MLPA COL4A5 Aminoglycoside-Induced Deafness / MT-RNR 87 Branchiootorenal Syndrome 3 EYA, SIX, SIX5 288 MLPA EYA Jervell and Lange-Nielson Syndrome Palmoplantar Keratoderma with Deafness 2 KCNE, KCNQ 773 GJB2 257 Pendred Syndrome Sensorineural Hearing Loss SLC26A4 773 MLPA SLC26A4 by GJB2, GJB3, GJB6, KCNQ4, MYO7A, MYO5A, 450 MT-RNR, MT-TS, SLC26A4, SLC26A5, TMC ACTG, ATP2B2, ATP6VB, BSND, CCDC50, CDH23, CEACAM6, CIB2, CLDN4, CLRN, COCH, COLA2, CRYM, DFNA5, DFNB3, DFNB59, DIABLO, DIAPH, DIAPH3, ESPN, ESRRB, EYA4, FOXI, GIPC3, GJB2, GJB3, GJB6, GPR98, GPSM2, GRHL2, GRXCR, HGF, ILDR, KCNJ0, KCNQ4, LHFPL5, LOXHD, LRTOMT, MARVELD2, MIR96, MSRB3, MYH4, MYH9, MYO5A, MYOA, MYO3A, MYO6, MYO7A, OTOA, OTOF, PCDH5, PDZD7, POU3F4, POU4F3, PRPS, PTPRQ, RDX, SERPINB6, SIX, SLC7A8, SLC26A4, SLC26A5, SMPX, STRC, TECTA, TJP2, TMC, TMIE, TMPRSS3, TPRN, TRIOBP (excluding exon 7), TRMU, USH2A, USHC, USHG, WFS GJB2 257 Stickler Syndrome 6 COL2A, COLA, COLA2, COL9A, COL9A2, 030 COL9A3 MLPA COLA Treacher-Collins Syndrome 3 POLRC, POLRD, TCOF 030 MLPA TCOF Vaksali 7A, 5040 Tartu, Estonia

17 Usher Syndrome Zellweger Spectrum Disorders by Asper Otogenetics 9 ADGRV (GPR98), CDH23, CLRN, MYO7A, 450 PCDH5, USH2A, USHC, USHG, WHRN (DFNB3) 20 ABHD2, ADGRV (GPR98), CDH23, CIB2, CLRN, 05 COL4A6, DSPP (excluding exon 5), GIPC3, HARS, KARS, LHFPL5, LOXHD, MYO7A, PCDH5, PDZD7, TNC, USH2A, USHC, USHG, WHRN (DFNB3) MLPA USH2A MLPA PCDH5 Waardenburg Syndrome 6 EDN3, EDNRB, MITF, PAX3, SNAI2, SOX0 030 MLPA 3 MITF, PAX3, SOX0 4 PEX, PEX2, PEX3, PEX5, PEX6, PEX7, PEX0, 05 PEX2, PEX3, PEX4, PEX6, PEX9, PEX26, PHYH Whole Exome (WES) Whole Genome (WGS) Service includes DNA extraction Genotyping Bioinformatic analysis of detected variants Detected variants available in Excel format (on request) Validation of phenotype/diagnosis associated known or possibly pathogenic variants Clinical and biological interpretation Results delivery by registered mail (on request) TAT 2-9 weeks, excl. WES and WGS 5 weeks Online ordering, specimen requirements and shipping instructions are available at Vaksali 7A, 5040 Tartu, Estonia

18 HEMATOLOGY Asper Hematology Alpha-Thalassemia PCR 2/7 HBA, HBA2 9 MLPA 2 HBA, HBA2 Beta-Thalassemia, Sickle Cell Disease HBB 257 MLPA HBB Fanconi Anemia 7 BRCA2, BRIP, ERCC4, FANCA, FANCB, FANCC, 05 FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, RAD5C, SLX4, XRCC2 MLPA 4 FANCA, FANCB, FANCD2, PALB2 070 Hereditary Sideroblastic Anemia 9 ABCB7, ALAS2, GLRX5, HSPA9, PUS, SLC9A2, 338 SLC25A38, TRNT, YARS2 Thrombocytopenia 4 ADAMTS3, ANKRD26, CYCS, GATA, GPBA, 070 GPBB, GP9, ITGA2B, ITGB3, MASTL, MPL, MYH9, RUNX, WAS Whole Exome (WES) Whole Genome (WGS) Service includes DNA extraction Genotyping Bioinformatic analysis of detected variants Detected variants available in Excel format (on request) Validation of phenotype/diagnosis associated known or possibly pathogenic variants Clinical and biological interpretation Results delivery by registered mail (on request) TAT 2-9 weeks, excl. WES and WGS 5 weeks Online ordering, specimen requirements and shipping instructions are available at Vaksali 7A, 5040 Tartu, Estonia

19 Asper Dysmorphology Brain malformations 47 ACTB, ACTG, ADGRG, AHI, AKT3, AMPD2, AMT, AP4M, ARFGEF2, ARL3B, ARX, ASPM, ATP6V0A2, ATR, ATRX, B9D, B3GALNT2, B4GAT, CASK, CC2D2A, CCND2, CDK5RAP2, CENPJ, CEP35, CEP290, CEP52, CEP63, CEP4, CHMPA, CLP, C5orf42, CREBBP, CUL4B, DCX, DHCR7, DHCR24, DLAT, DLD, DYNCH, ETFA, EFTUD2, ERMARD, ETFB, ETFDH, EXOSC3, 34 FAT4, FKRP, FKTN, FLNA, GCSH, GLDC, GMPPB, GPSM2, IER3IP, INPP5E, ISPD, KIF, KIF7, KIF2A, KIFBP, KIF5C, KNL, LAMA2, LAMB, LAMC3, LARGE, MCPH, MECP2, MKS, NBN, NDE, NHEJ, NPHP*, OCLN, OFD, OPHN, PAFAHB, PCNT, PDHA, PDHB, PDHX, PDP, PEX, PEX2, PEX3, PEX5, PEX6, PEX0, PEX2, PEX3, PEX4, PEX6, PEX9, PEX26, PIEZO2, PIK3R2, PNKP, POMGNT, POMGNT2, POMK, POMT, POMT2, PQBP, RAB8, RAB3GAP, RAB3GAP2, RARS2, RELN, RPGRIPL, RTTN, SEPSECS, SLC2A6, SLC25A9, SNAP29, SRD5A3, SRPX2, STIL, TBCD20, TCF4, TCTN, TCTN2, TCTN3, TMEM23, TMEM237, TMEM26, TMEM38, TMEM67, TMEM5, TSEN2, TSEN34, TSEN54, TTC2B, TUBAA, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG, TUBGCP6, VLDLR, VRK, WASHC5, WDR62, ZEB2, ZNF423 * - 250kb deletion in the heterozygous state is not with the test Craniosynostosis, 7 FGFR, FGFR2, FGFR3, ILRA, MSX2, RECQL4, 05 TWIST MLPA TWIST Microcephaly AP4M, ASPM, CASK, CDK5RAP2, CENPJ, CEP63, CEP35, CEP52, EFTUD2, IER3IP, KIF, KNL (CASC5), MCPH, NDE, NHEJ, PAFAHB, PCNT, PNKP, POMT, SLC25A9, STIL, TUBB2B, TUBGCP6, WDR62 Noonan Syndrome 3 BRAF, CBL, HRAS, KAT6B, KRAS, MAP2K, 05 MAP2K2, NRAS, PTPN, RAF, SHOC2, SOS, SPRED Skeletal Ciliopathies 23 CEP20, COMP, CSPP, DYNC2H, DYNC2LI, EVC, EVC2, FGFR3, IFT43, IFT22, IFT52, IFT80, IFT40, IFT72, KIAA0586, NEK, TCTEXD2, 546 TCTN3, TTC2B, WDR9, WDR34, WDR35, WDR60 Vaksali 7A, 5040 Tartu, Estonia

20 Asper Dysmorphology Skeletal Dysplasia, 5 ALPL, COL2A, ESCO2, FGFR, FGFR2, FGFR3, 05 ILRA, MSX2, RECQL4, ROR2, SLC26A2, SOX9, TRIP, TWIST, WNT5A MLPA COL2A MLPA TWIST Smith-Lemli-Opitz Syndrome DHCR7 525 Whole Exome (WES) Whole Genome (WGS) Service includes DNA extraction Genotyping Bioinformatic analysis of detected variants Detected variants available in Excel format (on request) Validation of phenotype/diagnosis associated known or possibly pathogenic variants Clinical and biological interpretation Results delivery by registered mail (on request) TAT 2-9 weeks, excl. WES and WGS 5 weeks Online ordering, specimen requirements and shipping instructions are available at Vaksali 7A, 5040 Tartu, Estonia

21 ENDOCRINOLOGY Asper Endocrinology Androgen Insensitivity Syndrome Combined Pituitary Hormone Deficiency Familial Hypocalciuric Hypercalcemia Hypothyroidism and Thyroid Hormone Resistance Maturity Onset Diabetes of the Young (MODY) Thyroid Dyshormonogenesis Whole Exome (WES) MLPA AR 6 HESX, LHX3, LHX4, OTX2, POUF, PROP MLPA 7 GH, GHRHR, HESX, LHX3, LHX4, POUF, PROP AR MLPA CASR 22 DUOX2, DUOXA2, GNAS, HESX, IYD, NKX2-, 070 NKX2-5, PAX8, POUF, PROP, SECISBP2, SLC5A5, SLC6A2, SLC26A4, TG, THRA, THRB, TPO, TRHR, TSHB, TSHR MLPA GNAS 5 ABCC8, BLK, CEL, GCK, HNFA, HNF4A, HNFB, INS, KCNJ, KLF, NEUROD, PAX4, PDX, RFX6, ZFP57 MLPA 0 CEL, GCK, HNFA, HNF4A, HNFB, INS, KLF, NEUROD, PAX4, PDX 6 CASR 535 DUOX2, DUOXA2, IYD, SLC5A5, TG, TPO MLPA 5 FOXE, NKX2-, PAX8, TPO, TSHR Whole Genome (WGS) Service includes DNA extraction Genotyping Bioinformatic analysis of detected variants Detected variants available in Excel format (on request) Validation of phenotype/diagnosis associated known or possibly pathogenic variants Clinical and biological interpretation Results delivery by registered mail (on request) TAT 2-9 weeks, excl. WES and WGS 5 weeks Online ordering, specimen requirements and shipping instructions are available at Vaksali 7A, 5040 Tartu, Estonia

22 METABOLIC DISORDERS Asper Metabolic Disorders Citrin Deficiency SLC25A3 803 Citrullinemia, type 2 ASS 803 Fatty Acid Oxidation Disorder Glutaric Aciduria, type Glutaric Aciduria, type 2 Glycogen Storage Disease 2 ACAD9, ACADM, ACADS, ACADVL, CPTA, 070 CPT2, ETFA, ETFB, ETFDH, GLUD, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSD7B0, LPIN, PPARG, SLC22A5, SLC25A20, TAZ MLPA SLC22A5 25 GCDH EFTA AGL, ALDOA, ENO3, FBP, G6PC, GAA, GBE, GYG, GYS, GYS2, LAMP2, LDHA, PFKM, PGAM2, PGK, PGM, PHKA, PHKA2, PHKB, PHKG2, PRKAG2, PYGL, PYGM, SLC2A2, SLC37A4 Hemochromatosis 5 HAMP, HFE, HFE2, SLC40A, TFR Lysosomal Storage Disease 50 AGA, ARSA, ARSB, ASAH, CLN3, CLN5. CLN6, 338 CLN8, CTNS, CTSA, CTSC, CTSD, CTSK, DNAJC5, FUCA, GAA, GALC, GALNS, GBA, GLA, GLB, GM2A, GNPTAB, GNPTG, GNS, GUSB, HEXA, HEXB, HGSNAT, HYAL, IDS, IDUA, LAMP2, LIPA, MAN2B, MANBA, MCOLN, MFSD8, NAGA, NAGLU, NEU, NPC, NPC2, PPT, PSAP, SGSH, SLC7A5, SMPD, SUMF, TPP MLPA GLA MLPA IDS MLPA 2 NPC, NPC2 MLPA HEXA Metabolic Myopathy and Rhabdomyolysis 43 ABHD5, ACAD9, ACADM, ACADVL, AGL, ALDOA, AMPD, CAV3, CPT2, ENO3, ETFA, ETFB, ETFDH, GAA, GBE, GYG, GYS, HADHA, HADHB, ISCU, LDHA, LPIN, OPA, OPA3, PFKM, PGAM2, PGK, PGM, PHKA, PNPLA2, PRKAG2, POLG, POLG2, PYGM, RRM2B, RYR, SLC22A5, SLC25A20, SUCLA2, TAZ, TK2, TWNK (C0ORF2), TYMP 070 Methylmalonic Aciduria and Homocystinuria 23 ABCD4, ACSF3, AMN, CBS, CD320, CUBN, GIF, 070 IVD, LMBRD, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTHFR, MTR, MTRR, MUT, SUCLA2, SUCLG, TCN, TCN2 MLPA MLYCD Vaksali 7A, 5040 Tartu, Estonia

23 METABOLIC DISORDERS Asper Metabolic Disorders Porphyria MLPA 9 7 ALAD, ALAS2, CPOX, FECH, HFE, HMBS, PPOX, UROD, UROS ALAD, CPOX, FECH, HMBS, PPOX, UROD, UROS Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency Smith Lemli Opitz Syndrome Whole Exome (WES) ACADS Urea Cycle Disorder 0 ARG, ASL, ASS, CPS, NAGS, OAT, OTC, 070 SLC7A7, SLC25A3, SLC25A5 MLPA OTC Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency DHCR7 ACADVL Whole Genome (WGS) Service includes DNA extraction Genotyping Bioinformatic analysis of detected variants Detected variants available in Excel format (on request) Validation of phenotype/diagnosis associated known or possibly pathogenic variants Clinical and biological interpretation Results delivery by registered mail (on request) TAT 2-9 weeks, excl. WES and WGS 5 weeks Online ordering, specimen requirements and shipping instructions are available at Vaksali 7A, 5040 Tartu, Estonia