Genomic Unity® Testing Comprehensive Neurology Testing Services Obtaining a molecular diagnosis for neurology patients can be challenging. It often involves a delicate balance between the type of variants and breadth of covered by a test versus its cost, which frequently leads to iterative testing. Genomic Unity® testing provides a single method approach for detection of multiple variant types from a single patient sample. The result is a cost-effective, comprehensive analysis of your patient’s DNA summarized in a single, unified clinical report.

The genetics of neurological disorders Traditional diagnostic path Neurological disorders have a complex inheritance pattern. Diagnosing neurological disorders can be very challenging. Variants may be inherited in an autosomal dominant, Phenotypes often overlap between diseases, plus patients autosomal recessive or X-linked manner, but they can also be frequently present with atypical symptoms. A traditional present in mitochondrial DNA or arise de novo. To complicate diagnostic path combines clinical evaluation with a matters, many different types of variants have been shown variety of neurological tests, including various imaging to cause neurological disorders including single nucleotide techniques, electrorencephalogram (EEG), lumbar puncture, variants and small indels, deletions and duplications of electroneuromyography (ENMG) tests and more. These tests varying sizes, as well as tandem repeat expansions. are often used to arrive at a preliminary diagnosis to guide confirmatory genetic testing. Unfortunately, the results don’t always point in the right molecular direction. This leads Benefits of genetic testing to long, iterative rounds of genetic testing where each individual round is limited by the (s) selected for testing Genetic testing is broadly supported as an important as well as the types of variants that can be detected by the tool in the diagnosis of pediatric and adultneurological assay. As a result of these limitations, you’re left with gaps in disorders. Its benefits include: variant coverage and an increased likelihood of a negative result.

Avoidance of costly, invasive testing procedures and/or empirical treatments with the potential to Why Genomic Unity® testing cause serious side effects Genomic Unity® provides comprehensive testing that is Knowledge to arrange surveillance and management based on whole genome sequencing (WGS) technology. of potentially treatable and avoidable co-morbidities Because the entire genome is sequenced without relying or to predict likelihood of recurrence on PCR amplification, WGS provides the ability to detect additional types of variants not covered by traditional Relief for the patient and family’s psychosocial microarray, gene panel or exome tests as well as the ability issues stemming from diagnostic uncertainty to reanalyze patient data without resequencing. You have the flexibility to start with multiple analysis options, which focus Information to help guide family planning and the phenotypic-driven analysis on select genes – including early diagnostic decisions for asymptomatic analysis of large structural variants located within or family members spanning these genes as well as relevant repeat expansions. If the initial analysis is nagative, you have the option to Potential opportunity to participate in clinical trials, reflex up to the broader Genomic Unity® Whole Genome research projects and patient registries Analysis. More comprehensive variant coverage Combining WGS’s consistent, comprehensive sequence coverage with proprietary algorithms, Genomic Unity® There are three distinct attributes of Genomic Unity® testing testing detects small indels as well as del/dup variants that contribute to more comprehensive variant coverage. without any size limitations. The result is more comprehensive testing of SNC1A, DMD and all genes.

More comprehensive del/dup analysis Tandem repeat analysis

Studies have shown that up to 30% of neurological disorders A number of neurological disorders are caused by the with a known genetic etiology are caused by small indels pathogenic expansion of tandem repeats. Genomic Unity® or deletions and duplications (del/dups) of varying sizes. testing specifically tests for expansion of >20 pathogenic Including many del/dups that are less than two in size. neurological disorder associated loci, depending on the This is significant because, as a general rule, microarray, gene patient’s clinical symptoms. panel and exome tests do not perform well at detecting del/dups smaller than two exons or small indels greater than Disorder Gene(s) 20 nucleotides. ATN1, ATXN1, ATXN2, ATXN3, ATXN7, As an example, consider the gene SCN1A. Coding for a type Ataxia ATXN8OS, ATXN10, CACNA1A, FXN, I sodium channel subunit, SCN1A variants are known to NOP56, PPP2R2B, TBP cause multiple disorders including Dravet syndrome and FTD-ALS C9ORF72 generalized epilepsy with febrile seizures plus (GEFS+). Reviewing more than 1,400 such variants, we see that Huntington related HTT, JPH3 greater than 35% are small indels, large del/dups or complex rearrangements as shown in the following graph1. Intellectual disability AFF2, AFF3, DIP2B, FMR1

Myoclonic epilepsy CSTB

Myotonic dystrophy CNBP, DMPK

Neuronal intranuclear NOTCH2NLC inclusion disease Spinal and bulbar AR muscular atrophy

Full tandem repeats, and in some cases intermediate and/or premutation repeats, are reported with the number of repeats. All reported tandem repeat expansions are independently confirmed by an orthogonal technology. As a second example, consider the gene DMD. Coding for the dystrophin , DMD variants are known to cause Gene panel and exome tests are unable to assess allele both Duchenne and Becker . Reviewing sizes, leaving repeat expansion variants uncovered. more than 3,400 such variants we see that greater than 50% are del/dups or complex rearrangements as shown in the Mitochondrial analysis following graph2. Neurological disorders caused by mitochondrial include Leigh syndrome, Kearns-Sayre syndrome and others. Unlike gene panel and exome tests which do not typically focus on mitochondrial genes, Genomic Unity® testing, depending on the option selected, includes analysis of mitochondrial variants. Using the 2000X mitochondrial coverage obtained by WGS, variants are detected down to a heteroplasmy level of 5%.

References

1. HGMD Professional database, version 2018.3, Qiagen 2. HGMD Professional database, version 2018.2, Qiagen Test (included genes) Sequence analysis Del/dup analysis Tandem repeat expansion analysis of

Genomic Unity® Epilepsy Analysis AFF2, AFF3, CSTB, DIP2B, FMR1

AARS1, ABAT, ABCD1, ACY1, ADAR, ADGRG1, ADSL, AFF2, AFF3, AFG3L2, AGA, AIFM1, AIMP1, ALDH3A2, ALDH5A2, ALDH7A2, ALG13, ALG9, ALPL, AMACR, AMT, ANKRD11, AP4B1, AP4E1, AP4M1, AP4S1, ARFGEF2, ARG1, ARHGEF9, ARSA, ARV1, ARX, ASAH1, ASNS, ASPA, ASPM, ATP13A2, ATP1A2, ATP1A3, ATP2A2, ATP6AP2, ATP6V0A2, ATRX, BCKDK, BRAT1, BTD, C12ORF57, CACNA1A, CACNA1H, CACNA2D2, CACNB4, CARS2, CASK, CASR, CC2D1A, CDKL5, CERS1, CHD2, CHRNA2, CHRNA4, CHRNB2, CLCN2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, COA8, COL4A1, COX15, COX6B1, CP2, CPA6, CSF1R, CSTB, CTC1, CTFD, CTNNB1, CTSF, CUL4B, CYP27A1, D2HGDH, DARS1, DARS2, DCX, DDX3X, DEAF1, DEPDC5, DHFR, DIP2B, DNAJC5, DNM1, , DPYD, DPYS, DYNC1H1, DYRK1A, EARS2, ECHS1, ECM1, EEF1A2, EFHC1, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EMX2, EPM2A, ETFDH, ETHE1, FA2H, FAM126A, FAR1, FARS2, FGD1, FGF12, FGFR3, FH, FKRP, FKTN, FLNA, FMR1, FOLR1, FOXG1, FOXRED1, FRRS1L, GABBR2, GABRA1, GABRB2, GABRB3, GABRD, GABRG2, GALC, GAMT, GATM, GCDH, GCH1, GCSH, GFAP, GFM1, GJC2, GLB1, GLDC, GLRA1, GNAO (GNOA1), GNB1, GNE, GOSR2, GPC3, GPHN, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRN, GTPBP3, GUF1, HACE1, HCN1, HCN4, HECW2, HEPACAM, HIBCH, HNRNPU, HPRT1, HSD17B10, HSPB1, HTRA1, HTT, IBA57, IER3IP1, IQSEC2, ITPA, JMJD1C, KANSL1, KCNA1, KCNA2, KCNB1, KCNC1, KCNH1, KCNJ10, KCNJ11, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD17, KDM5C, KDM6A, KIF1A, KIFBP, KMT2D, L2HGDH, LAMA2, LARGE1, LGI1, LIAS, LMNB1, LMNB2, LRPPRC, MAGI2, MBD5, MCPH1, MCPH2, MED12, MEF2C, MFSD8, MLC1, MOCS1, MRPL44, MTFMT, MTOR, NACC1, NALCN, NDE1, NDUFA1, NDUFAF5, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NECAP1, NEDD4L, NEU1, NEXMIF, NFU1, NGLY1, NHLRC1, NIPBL, NOTCH3, NPRL3, NR2F1, NRXN1, NUBPL, OFD1, OPHN1, PAFAH1B1, PAK3, PCDH19, PEX7, PGK1, PHF6, PHGDH, PIGN, PIGO, PIGT, PIGV, PLCB1, PLP1, PNKD, PNKP, PNPO, POLG, POLR3A, POLR3B, POMGNT1, POMT1, POMT2, PPP2R5D, PPT1, PQBP1, PRICKLE1, PRICKLE2, PRIMA1, PRODH, PRRT2, PSAP, PTS, PURA, PYCR2, QARS1, QDPR, RAB39B, RAB3GAP1, RAI1, RARS1, RELN, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF216, ROGDI, SAMHD1, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SCO1, SDHAF1, SERAC1, SERPINI1, SETBP1, SETD2, SGCE, SHH, SIK1, SIX3, SLC12A5, SLC13A5, SLC19A3, SLC1A2, SLC25A1, SLC25A12, SLC25A15, SLC25A19, SLC25A22, SLC2A1, SLC35A2, SLC39A8, SLC46A1, SLC6A1, SLC6A8, SLC9A6, SMC1A, SMC3, SMS, SNORD118, SOX10, SPATA5, SPTAN1, SRPX2, ST3GAL3, ST3GAL5, STIL, STRADA, STX1B, STXBP1, SUCLA2, SUMF1, SUOX, SYN1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TBCD, TBCE, TBCK, TBL1XR1, TBX1, TCF4, TPK1, TPP1, TREX1, TSC1, TSC2, TSEN54, TTC19, TUBA1A, TUBA8, TUBB2B, TUBB4A, UBA5, UBE2A, UBE3A, UNC80, VPS13A, VPS13B, WDR26, WDR45, WDR62, WWOX, YY1, ZEB2, ZFYVE26 CSTB Genomic Unity® CSTB Analysis

CSTB

Genomic Unity® Intellectual Disability AFF2, AFF3, DIP2B, FMR1 Analysis ABCD1, ACSL4, ADNP, AFF2, AFF3, AGA, AHDC1, AIFM1, ALG13, AMMECR1, ANKRD11, AP1S2, AP4B1, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARSE, ARX, ASXL1, ASXL3, ATP6AP2, ATP7A, ATRX, AUT22, BCAP31, BCOR, BCORL1, BDNF, BRWD3, CA8, CACNA1A, CASK, CC2D1A, CCDC22, CDKL5, CHD2, CHD7, CHD8, CLCN4, CNKSR2, CNTNAP2, CREBBP, CSNK2A1, CTCF, CTNNB1, CTNND2, CUL4B, DCX, DDX3X, DHCR7, DIP2B, DKC1, DLG3, DMD, DNM1, DNMT3A, DYNC1H1, DYRK1A, EBP, EFTUD2, EHMT1, EIF2S3, EP300, EZH2, FANCB, FGD1, FLNA, FMR1, FOLR1, FOXG1, FOXP1, FRMPD4, FTCD, FTSJ1, GAMT, GATAD2B, GATM, GDI1, GK, GNAO1, GPC3, GRIA3, GRIN1, GRIN2A, GRIN2B, HAL, HCCS, HCFC1, HCN1, HDAC6, HDAC8, HIVEP, HMGB3, HNRNPH2, HNRNPU, HOXA1, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IKBKG, IL1RAPL1, IQSEC2, ITPR1, KANSL1, KAT6A, KCNB1, KCNJ10, KDM5C, KDM6A, KIF1A, KIF4A, KLF8, KLHL15, KMT2A, KMT2D, L1CAM, LAMP2, LAS1L, LINS1, MAGT1, MAN1B1, MAOA, MAP2K1, MBD5, MBTPS2, MECP2, MED12, MED13L, MED23, MEF2C, MID1, MID2, MTM1, MTOR, MYT1L, NAA10, NALCN, NDP, NDUFA1, NEXMIF, NF1, NHS, NIPBL, NLGN3, NLGN4X, NONO, NR2F1, NRXN1, NSD1, NSDHL, NSF5, NSUN2, OCRL, OFD1, OGT, OPHN1, OTC, PACS1, PAK3, PAX6, PCDH19, PDHA1, PGAP2, PGK1, PHF6, PHF8, PIGA, PIGO, PIGV, PLA2G6, PLP1, PNKP, POGZ, POLA1, PORCN, PPP2R5D, PPT1, PQBP1, PRPS1, PTCHD1, PTEN, PTPN11, PURA, RAB39B, RAD21, RAI1, RBM10, RIT1, RLIM, RNF113A, RPL10, RPS6KA3, SATB2, SCN1A, SCN2A, SCN8A, SETBP1, SETD5, SHANK3, SHROOM4, SLC16A2, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SMS, SOS1, SOX3, SRPX2, SSR4, ST3GAL3, STAG2, STXBP1, SYN1, SYNGAP1, SYP, TAF1, TBC1D24, TBL1XR1, TBR1, TCF4, THOC2, TIMM8A, TMLHE, TRAPPC9, TRIO, TSC1, TSC2, TSPAN7, TUSC3, UBE2A, UBE3A, UPF3B, USP27X, USP9X, VPS13B, WAC, WDR45, WT1, ZC4H2, ZDHHC15, ZDHHC9, ZEB2, ZMYM3, ZNF41, ZNF711, ZNF81 Genomic Unity® MECP2 Analysis

MECP2 Genomic Unity® Motor Neuron Disorders AR, C9ORF72 Analysis ALDH18A1, ALS2, AMPD2, ANG, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, AR, ARL6IP1, ASAH1, ATL1, ATP13A2, ATP7A, B4GALNT1, BICD2, BSCL2, C12ORF65, C19ORF12, C9ORF72, CAPN1, CCT5, CHCHD10, CHMP2B, CPT1C, CYP2U1, CYP7B1, DCTN1, DDHD1, DDHD2, DNAJB2, DYNC1H1, ENTPD1, ERBB4, ERLIN1, ERLIN2, EXOSC3, EXOSC8, FA2H, FARS2, FBXO38, FIG4, FUS, GARS1, GBA2, GJC2, GRN, HACE1, HINT1, HNRNPA1, HSPB1, HSPB3, HSPD1, IBA57, IGHMBP2, KDM5C, KIDINS220, KIF1A, KIF1C, KIF5A, L1CAM, LAS1L, MAG, MAPT, MARS1, MATR3, NEFH, NIPA1, NT5C2, OPTN, PFN1, PLEKHG5, PLP1, PNPLA6, PRPH, RAB3GAP2, REEP1, REEP2, RTN2, SACS, SETX, SIGMAR1, SLC16A2, SLC1A4, SLC33A1, SLC52A3, SLC5A7, SMN1, SMN2, SOD1, SPART, SPAST, SPG11, SPG21, SPG7, SQSTM1, TAF15, TARDBP, TBK1, TECPR2, TFG, TRPV4, TUBA4A, UBA1, UBAP1, UBQLN2, USP8, VAMP1, VAPB, VCP, VPS37A, VRK1, WASHC5, ZFYVE26, ZFYVE27 Genomic Unity® SMN1/2 Analysis

SMN1, SMN2 Genomic Unity® Movement Disorders ATN1, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, CACNA1A, FXN, Analysis NOP56, NOTCH2NLC, PPP2R2B, TBP ABCB7, ABHD12, ABHD5, ACO2, ADAR, ADCY5, AFG3L2, AHI1, ALDH5A1, ANO10, ANO3, APTX, AR, ARL13B, ARL6, ARSA, ATCAY, ATM, ATN1, ATP13A2, ATP1A3, ATP2B3, ATP7B, ATP8A2, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BEAN1, C9ORF72, CA8, CACNA1A, CACNA1B, CACNA1G, CACNB4, CAMTA1, CAPN1, CASK, CC2D2A, CCDC88C, CEP290, CEP41, CIZ1, CLCN2, CLN5, CLPP, CNBP, COASY, COL6A3, COQ8A, COX20, CP, CPLANE1, CSTB, CWF19L1, CYP27A1, CYP2U1, DCAF17, DDC, DLAT, DMPK, DNAJC19, DNAJC6, DNMT1, EBF3, EEF2, ELOVL4, ELOVL5, FA2H, FBXL4, FBXO7, FGF14, FLVCR1, FMR1, FTL, FXN, GBA2, GCDH, GCH1, GFAP, GLRA1, GNAO (GNOA1), GOSR2, GRID2, GRM1, GSS, HARS2, HEXA, HIBCH, HPCA, INPP5E, ITN2B, ITPR1, KCNA1, KCNC3, KCND3, KCNJ1, KCNMA1, KCTD17, KIF1C, KIF7, KMT2B, LAMA1, LARS2, LMNB1, LRPPRC, LRRK2, MAPT, MARS2, MECR, MKKS, MKS1, MME, MRE11, MTFMT, MTPAP, MTTP, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NKX2-1, NOL3, NPC1, NPC2, NPHP1, NUBPL, OFD1, OPA1, OPHN1, PANK2, PARK7, PDGFB, PDGFRB, PDYN, PEX7, PEX10, PHYH, PINK1, PLA2G6, PNKD, PNKP, PNPL86, POLG, POLR3A, POLR3B, PPP2R2B, PRKCG, PRKN, PRKRA, PRRT2, RELN, RNF216, RPGRIP1L, RUBCN, SACS, SCN2A, SCP2, SERAC1, SETX, SGCE, SIL1, SLC16A2, SLC19A3, SLC1A3, SLC20A2, SLC25A46, SLC2A1, SLC30A10, SLC52A2, SLC6A3, SLC9A6, SNCA, SNX14, SPG7, SPR, SPTBN2, STUB1, SYNE1, SYNJ1, SYT14, TAF1, TBP, TCTN1, TCTN2, TCTN3, TDP1, TGM6, TH, THAP1, TIMM8A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM240, TMEM67, TOR1A, TOR1AIP1, TPK1, TPP1, TRAPPC11, TRIM32, TTBK2, TTC19, TTC8, TTPA, TUBB4A, TWNK, UBA5, VAMP1, VLDLR, VPS13A, VPS35, WDPCP, WDR45, WDR81, WFS1, WWOX, XPR1, ZFYVE26, ZNF423 Test (included genes) Sequence analysis Del/dup analysis Tandem repeat expansion analysis of Genomic Unity® AR Analysis AR

AR

Genomic Unity® Ataxia Analysis ATN1, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, CACNA1A, FXN, NOP56, PPP2R2B, TBP AFG3L2, ANO10, APTX, ATM, ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, CACNA1A, CACNA1G, CACNB4, COQ8A, EEF2, ELOVL4, ELOVL5, FGF14, FLVCR1, FXN, GRM1, ITPR1, KCNA1, KCNC3, KCND3, MME, MRE11, MTPAP, NOP56, PDYN, POLG, PPP2R2B, PRKCG, SACS, SETX, SIL1, SLC1A3, SNX14, SPTBN2, STUB1, SYNE1, SYT14, TBP, TDP1, TGM6, TMEM240, TTBK2, TTPA, TWNK, VAMP1 Genomic Unity® Ataxia Repeat Expan- ATN1, ATXN1, ATXN2, ATXN3, ATXN7, sion Analysis ATXN8OS, ATXN10, CACNA1A, FXN, NOP56, PPP2R2B, TBP ATN1, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, CACNA1A, FXN, NOP56, PPP2R2B, TBP

Genomic Unity® CACNA1A Analysis CACNA1A

CACNA1A

Genomic Unity® FXN Analysis FXN

FXN

Genomic Unity® Neuromuscular CNBP, DMPK Disorders Analysis ACTA1, AGRN, ALG14, ALG2, ANO5, ATP2A1, B3GALNT2, B4GAT1, BAG3, BIN1, CACNA1S, CAPN3, CAV3, CCDC78, CFL2, CHAT, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CLCN1, CNBP, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, COLQ, CPT2, CRYAB, DAG1, DES, DMD, DMPK, DNAJB6, DNM2, DOK7, DPAGT1, DPM1, DPM2, DPM3, DYSF, EMD, FHL1, FKBP14, FKRP, FKTN, FLNC, GAA, GFPT1, GMPPB, GNE, GYS1, HINT1, HNRNPA2B1, HNRNPDL, HSPG2, ISPD, ITGA7, KBTBD13, KCNJ2, KLHL40, KLHL41, KLHL9, LAMA2, LAMB2, LAMP2, LARGE1, LDB3, LIMS2, LMNA, LMOD3, LRP4, MATR3, MEGF10, MTM1, MTMR14, MUSK, MYF6, MYH2, MYH7, MYO9A, MYOT, MYPN, NEB, PLEC, PNPLA2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PREPL, RAPSN, RXYLT1, RYR1, SCN4A, SELENON, SGCA, SGCB, SGCD, SGCG, SLC5A7, SMCHD1, SNAP25, STAC3, STIM1, SUN1, SUN2, SYNE1, SYNE2, TCAP, TIA1, TMEM43, TNNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TTN, VCP, VMA21 Genomic Unity® Muscular Dystrophy Analysis

ANO5, B3GALNT2, B4GAT1, CAPN3, CAV3, CHKB, COL12A1, COL6A1, COL6A2, COL6A3, DAG1, DES, DMD, DNAJB6, DYSF, EMD, FHL1, FKRP, FKTN, GMPPB, HNRNPDL, ISPD, ITGA7, LAMA2, LARGE1, LIMS2, LMNA, MYOT, PLEC, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RXYLT1, SELENON, SGCA, SGCB, SGCD, SGCG, SMCHD1, SUN1, SUN2, SYNE1, SYNE2, TCAP, TMEM43, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN

Genomic Unity® DMD Analysis

DMD

Genomic Unity® Neuropathies Analysis

AARS1, AIFM1, ARHGEF10, ATL1, ATL3, ATP1A1, ATP7A, BICD2, BSCL2, CCT5, CHCHD10, COA7, COX6A1, DCAF8, DCTN1, DHTKD1, DNAJB2, DNM2, DNMT1, DST, DYNC1H1, EGR2, ELP1, FBXO38, FGD4, FIG4, FLRT1, GAN, GARS1, GDAP1, GJB1, GNB4, HARS1, HINT1, HK1, HSPB1, HSPB3, HSPB8, IGHMBP2, IKBKAP, INF2, KARS1, KIF1A, KIF1B, KIF5A, LAS1L, LITAF, LMNA, LRSAM1, MARS1, MCM3AP, MED25, MFN2, MME, MORC2, MPZ, MTMR2, NDRG1, NEFH, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PRDM12, PRPS1, PRX, RAB7A, REEP1, RETREG1, SBF1, SBF2, SCN10A, SCN11A, SCN9A, SEPTIN9, SETX, SH3TC2, SIGMAR1, SLC12A6, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SPG11, SPTLC1, SPTLC2, SURF1, TFG, TRIM2, TRPV4, TTR, UBA1, VAPB, VCP, VRK1, WNK1, YARS1 Genomic Unity® Neurology Analysis AFF2, AFF3, AR, ATN1, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, C9ORF72, CACNA1A, CNBP, CSTB, DIP2B, DMPK, FMR!, FXN, HTT, JPH3, NOP56, NOTCH2NLC, PPP2R2B, TBP

Combines all of the above analyses

Genomic Unity® Mitochondrial Analysis Mitochondrial genome analysis

AARS2, ABCB6, ABCB7, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACSF3, AFG3L2, AGK, AGL, AIFM1, AK2, ALAS2, ALDH18A1, ALDH2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, AMACR, AMT, APTX, ATP5A1, ATP5E, ATP7B, ATP8B1, ATPAF2, ATXN2, AUH, BAX, BCKDHA, BCKDHB, BCKDK, BCL2, BCS1L, BOLA3, C12ORF65, C19ORF12, CA5A, CARS2, CAVIN1, CHCHD10, CISD2, CLPB, CLPP, COA5, COA6, COA8, COQ2, COQ4, COQ6, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX4I2, COX6A1, COX6B1, COX7B, CPT1A, CPT1C, CPT2, CYC1, CYCS, CYP11A1, CYP27A1, D2HGDH, DARS2, DBT, DDHD1, DECR1, DGMDH, DGUOK, DHODH, DHTKD1, DIABLO, DLAT, DLD, DNA2, DNAJC19, DNM1L, EARS2, ECHS1, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FAH, FARS2, FASTKD2, FBXL4, FDX10, FH, FOXRED1, FXN, G6PC, GAA, GAMT, GATM, GBE1, GCDH, GCSH, GDAP1, GFER, GFM1, GFM2, GLDC, GLRX5, GLUD1, GPI, GPT2, GPX1, GRHPR, GSR, GSS, GTPBP3, GYS1, GYS2, HADHA, HADHB, HARS2, HAX1, HCCS, HK1, HMGCL, HMGCS2, HOGA1, HSD17B10, HSD3B2, HSPA9, HSPD1, HTRA2, IARS2, IBA57, IDH2, IDH3B, ISCA2, ISCU, IVD, KIF1B, L2HGDH, LARS2, LGHA, LIAS, LIPT1, LONP1, LRPPRC, LYRM4, LYRM7, MARS2, MCCC1, MCCC2, MCEE, MECR, MFF, MFN2, MGME1, MICU1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MPC1, MPV17, MRPL12, MRPL3, MRPL44, MRPS16, MRPS22, MRPS7, MSRB3, MTFMT, MTO1, MTPAP, NADK2, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFA1, NFU1, NNT, NUBPL, OAT, OGDH, OGG1, OPA1, OPA3, OXCT1, PAM16, PANK2, PARS2, PC, PCCA, PCCB, PCK2, PDHA1, PDHB, PDHX, PDK3, PDSS1, PDSS2, PET100, PFKM, PGAM2, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PINK1, PKLR, PNPLA8, PNPT1, POLG, POLG2, PPM1K, PRKAG2, PRODH, PRPS1, PTRH2, PUS1, PYCR1, PYCR2, PYGM, QARS1, RANBP2, RARS2, REEP1, RMND1, RNASEH1, RNASEL, RRM2B, SARDH, SARS2, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A38, SLC25A4, SLC25A46, SLC37A4, SLC6A8, SOD2, SPG7, STAR, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TAZ, TIMM44, TIMM8A, TK2, TMEM126A, TMEM70, TMLHE, TPI1, TPK1, TRIT1, TRMU, TRNT1, TSFM, TTC19, TUFM, TWNK, TXNRD2, TYMP, UNG, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, WDR81, WFS1, XPNPEP3, YARS2

Mitochondrial genes

MT-ATP8, MT-ATP6, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4L, MT-ND4, MT-ND5, MT-ND6, MT-RNR2, MT-TA, MT-TR, MT-TN, MT-TD, MT-TC, MT-TE, MT-TQ, MT- TG, MT-TH, MT-TI, MT-TL1, MT-TL2, MT-TK, MT-TM, MT-TF, MT-TP, MT-TS1, MT-TS2, MT-TT, MT-TW, MT-TY, MT-TV, MT-RNR1, MT-RNR2 Test (included genes) Sequence analysis Del/dup analysis Tandem repeat expansion analysis of Genomic Unity® Exome AFF2, AFF3, AR, ATN1, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, C9ORF72, CACNA1A, CNBP, Analysis CSTB, DIP2B, DMPK, FMR1, FXN, HTT, JPH3, NOP56, NOTCH2NLC, PHOX2B, PPP2R2B, TBP, TCF4

All nuclear genes

Genomic Unity® Whole AFF2, AFF3, AR, ATN1, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, C9ORF72, CACNA1A, CNBP, Genome Analysis CSTB, DIP2B, DMPK, FMR1, FXN, HTT, JPH3, NOP56, NOTCH2NLC, PHOX2B, PPP2R2B, TBP, TCF4

All nuclear genes plus mitochondrial genome analysis

All tests include the option to reflex up to Genomic Unity® Whole Genome Analysis when the initial result is not positive.

A custom analysis of any combination of >4,000 genes can be ordered. Contact a clinical coordinator for specific details.

Accepted sample types

Blood – optimally 5ml gDNA – 5 μg minimum Saliva

Turnaround time

6-8 weeks after sample receipt

Flexible billing options In addition to institutional billing, Variantyx provides 3rd party billing for many commercial insurances, Medicare and many Medicaid plans.

Contact us Have questions? Want to request a sample collection kit, or schedule mobile phlebotomy? Contact our clinical coordinators at 617-209-2090 or [email protected].

Variantyx Inc. Controlled document #: DCVXNTCSB0028 617 209 2090 1671 Worcester Road, Suite 300 Updated 10-23-2020 [email protected] Framingham MA 01701 www.variantyx.com