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

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1 Disease/Condition name Method No of Asper Ophthalmics Achromatopsia 6 ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H 05 Age-related Macular Degeneration 2 ABCA4, ARMS2, C2, C3, C9, CCR3, CFB, CFH, 995* CFI, CST3, CXCL8, CX3CR, ERCC6, FBLN5, HMCN, HTRA, IL6, ILA, NLRP3, RAX2, TLR4 2/3 ARMS2, CFH 87 Aniridia 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 Optic Atrophy regions sequencing by OPA OPA, OPA3, TMEM26A (autosomal recessive optic atrophy) 030 Autosomal Dominant Retinitis Pigmentosa regions sequencing by 6 26 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 Autosomal Recessive Retinitis Pigmentosa regions sequencing by 28 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, KLHL7, 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 34 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 regions sequencing 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 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 2 CHST6, COL5A, COL7A, COL8A2, CYP4V2, DCN, GSN, KRT3, KRT2, LOXHD, PIKFYVE, PRDM5, SLC4A, SOD, ZEB, ZNF469, TAC- STD2, TCF4, TGFBI, UBIAD, VSX Glaucoma 9 ACVR, ASB0, BEST, CANT, COL8A, CYPB, FOXC, LMXB, LOXL, LTBP2, MYOC, NTF4, OPTN, PAX6, PITX2, PITX3, SBF2, SLC4A4, WDR36 Leber Congenital Amaurosis Leber Hereditary Optic Neuropathy regions sequencing by RFLP /3 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 Norrie Disease NDP 262 Vaksali 7A, 5040 Tartu, Estonia

3 Asper Ophthalmics Disease/Condition name Method No of Norrie Disease Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome 7 NDP AP3B, BLOCS3, BLOCS6, C0orf, DTNBP, GPR43, HPS, HPS3, HPS4, HPS5, HPS6, LYST, OCA2, SLC24A5, SLC45A2, TYR, TYRP Papillorenal Syndrome PAX2 525 Retinoblastoma RB 960 Stargardt Disease ABCA ABCA4, CNGB3, ELOVL4, PROM 030 Usher Syndrome regions sequencing by 9 20 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) Vitelliform Macular Dystrophy BEST BEST, PRPH2 030 X-Linked Retinitis Pigmentosa regions sequencing by, 2 RP2, RPGR (ORF5 included) 640 RPGR (ORF5 region only) 257, 3 OFD, RP2, RPGR (ORF5 included) 05 X-Linked Retinoschisis RS 395 Eye Diseases genes associated with different eye diseases 567 Whole Exome (WES) Whole Genome (WGS) Vaksali 7A, 5040 Tartu, Estonia

4 Asper Ophthalmics * 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 Disease/Condition name Method No of Ashkenazi Jewish Diseases Carriership Cystic Fibrosis Folate-Dependent Neural Tube Defects mutation analysis by APEX TruSightTM Inherited Disease mutation analysis by APEX mutation analysis 3/7 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 /289 Fragile X Syndrome Repeat FMR 262 Expansion/ Fragment Length Analysis PCR Male Factor Infertility 9/29 CFTR, DDX25, DNAH5, DNAH, DNAI, ESR2, 492 mutation FSHB, GNRHR, INSL3, NLRP4, PRDM9, PRM, analysis by PRM2, PRM3, RBMXL2, RXFP2, TEKT2, USP26, APEX, PCR UTP4C 47XXY AZF deletions CFTR CFTR MTHFR 47XXY N/A 87 PCR 3/8 (+9 for AZF deletions 87 extended analysis) Maternal Cell Contamination 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 Disease/Condition name Method No of Breast and Ovarian/ Endometrial Cancer 2 33 BRCA, BRCA2 ATM, BARD, BRCA, BRCA2, BRIP, CASP8, CDH, CHEK2, FANCA, FANCC, FANCD2 (excluding exon 5), FANCE, FANCF, FANCG, KRAS, MAP3K, MEN, MLH, MSH2, MSH6, MREA, MUTYH, NBN, PALB2, PTCH, PTEN, RAD50, RAD5C, RAD5D, STK, TGFB, TP53, XRCC2 Cancer Predisposition 92 AIP, ALK, APC, ATM, BAP, BLM, BMPRA, 05 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, HRAS, KIT, MAX, MEN, MET, MLH, MSH2, MSH6, MUTYH, NBN, NF, NF2, NSD, PALB2, PHOX2B, PRF, PRKARA, PTCH, PTEN, RAD5C, RAD5D, RB, RECQL4, RET, RHBDF2, RUNX, SBDS, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCB, STK, SUFU, TMEM27, TP53, TSC, TSC2, VHL, WRN, WT, XPA, XPC Familial Adenomatous Polyposis APC 773 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 2/NA MLH MSH2 MSH6 3 MLH, MSH2, MSH6 030 MLH, MSH2 3 CDK4, CDKN2A, MITF Microsatellite instability Fragment Analysis NA/6 75 MUTYH-associated Polyposis MUTYH 257 RFLP /2 MUTYH 70 Nijmegen Breakage Syndrome / NBN NBN Vaksali 7A, 5040 Tartu, Estonia

8 Asper Oncogenetics Disease/Condition name Method No of Polyposis Syndromes 6 APC, BMPRA, MUTYH, PTEN, SMAD4, STK 030 Thyroid Cancer 0 APC, CDC73, DICER, MEN, PRKARA, PTEN, 05 SDHB, SDHD, RET, TP53 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 Disease/Condition name Method No of Apolipoprotein C-II Deficiency Asper Cardiogenetics 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 Brugada Syndrome 5 Catecholaminergic Polymorphic Ventricular Tachycardia CACNAC, CACNA2D, CACNB2, GPDL, HCN4, KCND3, KCNE3, KCNEL, KCNJ8, RANGRF, SCN5A, SCNB, SCN2B, SCN3B, TRPM4 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 338 Familial Hypercholesterolemia CTNNA3, DES, DSG2, DSC2, DSP, JUP, LDB3, LMNA, PKP2, PLN, RYR2, TGFB3, TMEM43, TTN ANK2, CALM, CASQ2, KCNJ2, RYR2, TRDN APOB, LDLR, LDLRAP, PCSK Familial Lipoprotein Lipase Deficiency LPL 267 Familial Thoracic Aortic Aneurysm and Dissection and Related Syndromes 2 ACTA2, COL3A, COL5A, FBN, MYH, MYLK, 288 SLC2A0, SMAD3, TGFB2, TGFBR, TGFBR2, TGFBR3 Hyperlipoproteinemia, type 3 Hyperlipoproteinemia, type 5 /2 APOE 87 APOA5 267 Hypertriglyceridemia 6 APOA5, APOC2, GPD, GPIHBP, LMF, LPL 070 Hypertrophic Cardiomyopathy Lecithin Cholesterol Acyltransferase Deficiency 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 LCAT 267 Long QT Syndrome 4 05 AKAP9, ANK2, CACNAC, CALM, CAV3, KCNE, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ, SCN5A, SCN4B, SNTA Vaksali 7A, 5040 Tartu, Estonia

10 Disease/Condition name Method No of Statin-Induced Myopathy Asper Cardiogenetics Noonan Syndrome 3 BRAF, CBL, HRAS, KAT6B, KRAS, MAP2K, 05 MAP2K2, NRAS, PTPN, RAF, SHOC2, SOS, SPRED Pulmonary Arterial Hypertension / SLCOB 87 2 ACVRL, BMPR2, BMPRB, CAV, EIF2AK4, 338 ENG, FOXF, GDF2, KCNA5, KCNK3, SMAD4, SMAD9 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) 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 Disease/Condition name Method No of Alzheimer Disease Amyotrophic Lateral Sclerosis Autism Spectrum Disorders 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 Charcot-Marie-Tooth Disease 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 /NA PMP22 36 Cornelia de Lange Syndrome Craniosynostosis 5 HDAC8, NIPBL, RAD2, SMC3, SMCA 030, 7 FGFR, FGFR2, FGFR3, ILRA, MSX2, RECQL4, 05 TWIST 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 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, Vaksali 7A, 5040 Tartu, Estonia

12 Disease/Condition name Method No of Hereditary Spastic Paraplegia Menkes Disease ATP7A 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 Microcephaly 24 AP4M, ASPM, CASK, CDK5RAP2, CENPJ, 34 CEP63, CEP35, CEP52, EFTUD2, IER3IP, KIF, KNL (CASC5), MCPH, NDE, NHEJ, PAFAHB, PCNT, PNKP, POMT, SLC25A9, STIL, TUBB2B, TUBGCP6, WDR62 Mitochondrial Diseases 37 Mitochondrial Genome 030 / 33 AARS2, ABCB7, ACAD9, ACADL, ACADM, 34 ACADS, ACADVL, ADCK3, AFG3L2, AIFM, ALAS2, APTX, ATP5E, ATPAF2, AUH, BCSL, BOLA3, C0orf2, C2orf65, CISD2, COA5, COQ2, COQ6, COQ9, COX0, COX5, COX6B, CPTA, CPT2, DARS2, DGUOK, DLAT, DLD, DNAJC9, DNML, ETFA, ETFB, ETFDH, ETHE, FASTKD2, FBP, FH, FOXRED, G6PC, GAMT, GATM, GFER, Epilepsy 27 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, 546 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 Fragile X Syndrome Frontotemporal Dementia Repeat Expansion/ Fragment FMR 262 Length Analysis 5 CHMP2B, GRN, MAPT, TARDBP, 05 PSEN 34 ATL, AP4B, AP4E, AP4M, AP4S, AP5Z, B4GALNT, BSCL2, CYP7B, CYP2U, DDHD2, ERLIN2, FA2H, GBA2, GJC2, HSPD, KIAA096, KIFA, KIF5A, LCAM, NIPA, PLP, PNPLA6, REEP, RTN2, SLC6A2, SPAST, SPG7, SPG, SPG20, SPG2, TECPR2, VPS37A, ZFYVE26 34 / MT-ATP Vaksali 7A, 5040 Tartu, Estonia

13 Asper Neurogenetics Disease/Condition name Method No of Mitochondrial Diseases 33 GFM, GYS2, HARS2, HLCS, HADH, HADHA, HSPD, ISCU, LRPPRC, MFN2, MPV7, MRPS6, MRPS22, MTFMT, MTPAP, NDUFA, NDUFA0, NDUFA, NDUFA2, NDUFA2, NDUFAF, NDU- 34 FAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB3, NDUFB9, NDUFS, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV, NDUFV2, NFU, NUBPL, OPA, OPA3, PC, PDHA, PDHB, PDHX, 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, TYMP, UQCRB, UQCRQ, WFS, YARS2 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 Parkinson Disease 20 ADHC, ATP3A2, ATXN2, DNAJC6, EIF4G, FBXO7, GBA, GIGYF2, HTRA2, LRRK2, MAPT, PARK2, PARK7, PINK, PLA2G6, SLC6A3, SNCA, TBP (excluding exon 3), UCHL, VPS35 34 Short Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency Smith-Lemli-Opitz Syndrome ACADS 55 DHCR7 525 Spinocerebellar Ataxias 64 ABCB7, ABHD2, ACO2, ADCK3 (COQ8A), 34 AFG3L2, ANO0, APTX, ATCAY, ATM, ATN, 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, 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 2677 Vaksali 7A, 5040 Tartu, Estonia

14 Asper Neurogenetics Disease/Condition name Method No of Very Long Chain Acyl-Coenzyme A Dehydrogenase (VLCAD) Deficiency ACADVL 55 Wilson Disease ATP7B 773 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

15 Disease/Condition name Method No of Asper Otogenetics Alport Syndrome 3 COL4A3, COL4A4, COL4A5 030 Aminoglycoside-Induced Deafness sequencing / MT-RNR 87 Branchiootorenal Syndrome 3 EYA, SIX, SIX5 288 Jervell and Lange-Nielson Syndrome Palmoplantar Keratoderma with Deafness 2 KCNE, KCNQ 773 GJB2 257 Pendred Syndrome Sensorineural Hearing Loss regions sequencing by SLC26A4 773 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 Treacher-Collins Syndrome Usher Syndrome 3 POLRC, POLRD, TCOF 030 regions sequencing by 9 ADGRV (GPR98), CDH23, CLRN, MYO7A, 450 PCDH5, USH2A, USHC, USHG, WHRN (DFNB3) 20 ABHD2, ADGRV (GPR98), CDH23, CIB2, CLRN, COL4A6, DSPP (excluding exon 5), GIPC3, 05 HARS, KARS, LHFPL5, LOXHD, MYO7A, PCDH5, PDZD7, TNC, USH2A, USHC, USHG, WHRN (DFNB3) Waardenburg Syndrome 6 EDN3, EDNRB, MITF, PAX3, SNAI2, SOX0 030 Vaksali 7A, 5040 Tartu, Estonia

16 Disease/Condition name Method No of Zellweger Spectrum Disorders Asper Otogenetics 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

17 HEMATOLOGY Asper Hematology Disease/Condition name Method No of Alpha-Thalassemia PCR 2/7 HBA, HBA2 9 Beta-Thalassemia, Sickle Cell Disease HBB 257 Fanconi Anemia 7 BRCA2, BRIP, ERCC4, FANCA, FANCB, FANCC, FANCD2 (excluding exons 5, 6), FANCE, 05 FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, RAD5C, SLX4, XRCC2 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

18 Disease/Condition name Method No of 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 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 Skeletal Dysplasia, 5 ALPL, COL2A, ESCO2, FGFR, FGFR2, FGFR3, 05 ILRA, MSX2, RECQL4, ROR2, SLC26A2, SOX9, TRIP, TWIST, WNT5A Smith-Lemli-Opitz Syndrome DHCR7 525 Vaksali 7A, 5040 Tartu, Estonia

19 Asper Dysmorphology Disease/Condition name Method No of 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

20 ENDOCRINOLOGY Disease/Condition name Method No of Androgen Insensitivity Syndrome AR Asper Endocrinology 535 Combined pituitary hormone deficiency 6 HESX, LHX3, LHX4, OTX2, POUF, PROP 070 Familial Hypocalciuric Hypercalcemia CASR 535 Hypothyroidism and Thyroid Hormone Resistance 22 DUOX2, DUOXA2, GNAS, HESX, IYD, NKX2-, NKX2-5, PAX8, POUF, PROP, SECISBP2, SLC5A5, SLC6A2, SLC26A4, TG, THRA, THRB, TPO, TRHR, TSHB, TSHR Maturity Onset Diabetes of the Young (MODY) 5 ABCC8, BLK, CEL, GCK, HNFA, HNF4A, HNFB, INS, KCNJ, KLF, NEUROD, PAX4, PDX, RFX6, ZFP Thyroid Dyshormonogenesis 6 DUOX2, DUOXA2, IYD, SLC5A5, TG, TPO 070 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 METABOLIC DISORDERS Asper Metabolic Disorders Disease/Condition name Method No of Citrin Deficiency SLC25A3 803 Citrullinemia, type 2 ASS 803 Fatty Acid Oxidation Disorder Glutaric Aciduria, type Glutaric Aciduria, type 2 Glycogen Storage Disease Lysosomal Storage Disease Metabolic Myopathy and Rhabdomyolysis Methylmalonic Aciduria and Homocystinuria Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency ACAD9, ACADM, ACADS, ACADVL, CPTA, CPT2, ETFA, ETFB, ETFDH, GLUD, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSD7B0, LPIN, PPARG, SLC22A5, SLC25A20, TAZ 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 AGA, ARSA, ARSB, ASAH, CLN3, CLN5. CLN6, 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 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 ABCD4, ACSF3, AMN, CBS, CD320, CUBN, GIF, IVD, LMBRD, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTHFR, MTR, MTRR, MUT, SUCLA2, SUCLG, TCN, TCN2 Porphyria 9 ALAD, ALAS2, CPOX, FECH, HFE, HMBS, PPOX, UROD, UROS Smith Lemli Opitz Syndrome GCDH EFTA ACADS DHCR7 Urea Cycle Disorder 0 ARG, ASL, ASS, CPS, NAGS, OAT, OTC, SLC7A7, SLC25A3, SLC25A Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency ACADVL 535 Vaksali 7A, 5040 Tartu, Estonia

22 METABOLIC DISORDERS Asper Metabolic Disorders Disease/Condition name Method No of 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