Genomic Unity® TestingComprehensive 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 genes 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 disordersNeurological disorders have a complex inheritance pattern. Variants may be inherited in an autosomal dominant, autosomal recessive or X-linked manner, but they can also be present in mitochondrial DNA or arise de novo. To complicate matters, many different types of variants have been shown to cause neurological disorders including single nucleotide variants and small indels, deletions and duplications of varying sizes, as well as tandem repeat expansions.

Benefits of genetic testing

Genetic testing is broadly supported as an importanttool in the diagnosis of pediatric and adultneurological disorders. Its benefits include:

Traditional diagnostic path

Diagnosing neurological disorders can be very challenging. Phenotypes often overlap between diseases, plus patients frequently present with atypical symptoms. A traditional diagnostic path combines clinical evaluation with a variety of neurological tests, including various imaging techniques, electrorencephalogram (EEG), lumbar puncture, electroneuromyography (ENMG) tests and more. These tests 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 to long, iterative rounds of genetic testing where each individual round is limited by the gene(s) selected for testing as well as the types of variants that can be detected by the assay. As a result of these limitations, you’re left with gaps in variant coverage and an increased likelihood of a negative result.

Why Genomic Unity® testing

Genomic Unity® provides comprehensive testing that is based on whole genome sequencing (WGS) technology. Because the entire genome is sequenced without relying on PCR amplification, WGS provides the ability to detect additional types of variants not covered by traditional microarray, gene panel or exome tests as well as the ability to reanalyze patient data without resequencing. You have the flexibility to start with multiple analysis options, which focus the phenotypic-driven analysis on select genes – including analysis of large structural variants located within or spanning these genes as well as relevant repeat expansions. If the initial analysis is nagative, you have the option to reflex up to the broader Genomic Unity® Whole Genome Analysis.

Avoidance of costly, invasive testing proceduresand/or empirical treatments with the potential tocause serious side effects

Knowledge to arrange surveillance and management of potentially treatable and avoidable co-morbidities or to predict likelihood of recurrence

Relief for the patient and family’s psychosocial issues stemming from diagnostic uncertainty

Information to help guide family planning andearly diagnostic decisions for asymptomaticfamily members

Potential opportunity to participate in clinical trials, research projects and patient registries

Disorder Gene(s)

AtaxiaATN1, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, CACNA1A, FXN, NOP56, PPP2R2B, TBP

FTD-ALS C9ORF72

Huntington related HTT, JPH3

Intellectual disability AFF2, AFF3, DIP2B, FMR1

Myoclonic epilepsy CSTB

Myotonic dystrophy CNBP, DMPK

Neuronal intranuclear inclusion disease NOTCH2NLC

Spinal and bulbar muscular atrophy AR

More comprehensive variant coverage

There are three distinct attributes of Genomic Unity® testing that contribute to more comprehensive variant coverage.

Tandem repeat analysis

A number of neurological disorders are caused by the pathogenic expansion of tandem repeats. Genomic Unity® testing specifically tests for expansion of >20 pathogenic neurological disorder associated loci, depending on the patient’s clinical symptoms.

More comprehensive del/dup analysis

Studies have shown that up to 30% of neurological disorders with a known genetic etiology are caused by small indels or deletions and duplications (del/dups) of varying sizes. Including many del/dups that are less than two exons in size. This is significant because, as a general rule, microarray, gene panel and exome tests do not perform well at detecting del/dups smaller than two exons or small indels greater than 20 nucleotides.

As an example, consider the gene SCN1A. Coding for a type I sodium channel subunit, SCN1A variants are known to cause multiple disorders including Dravet syndrome and generalized epilepsy with febrile seizures plus (GEFS+). Reviewing more than 1,400 such variants, we see that greater than 35% are small indels, large del/dups or complex rearrangements as shown in the following graph1.

Mitochondrial analysis

Neurological disorders caused by mitochondrialmutations include Leigh syndrome, Kearns-Sayresyndrome and others. Unlike gene panel and exome testswhich 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%.

As a second example, consider the gene DMD. Coding for the dystrophin protein, DMD variants are known to causeboth Duchenne and Becker muscular dystrophy. Reviewing more than 3,400 such variants we see that greater than 50% are del/dups or complex rearrangements as shown in the following graph2.

Combining WGS’s consistent, comprehensive sequence coverage with proprietary algorithms, Genomic Unity® testing detects small indels as well as del/dup variants without any size limitations. The result is more comprehensive testing of SNC1A, DMD and all genes.

Full mutation 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.

Gene panel and exome tests are unable to assess allele sizes, leaving repeat expansion variants uncovered.

References

1. HGMD Professional database, version 2018.3, Qiagen2. 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, DOCK7, 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

Genomic Unity® CSTB Analysis CSTB

CSTB

Genomic Unity® Intellectual Disability Analysis

AFF2, AFF3, DIP2B, FMR1

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 Analysis

AR, C9ORF72

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 Analysis

ATN1, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, CACNA1A, FXN, 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-sion Analysis

ATN1, ATXN1, ATXN2, ATXN3, ATXN7, 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 Disorders Analysis

CNBP, DMPK

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

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 5mlgDNA – 5 μg minimumSaliva

Flexible billing options

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

Turnaround time

6-8 weeks after sample receipt

Contact us

Have questions? Want to request a sample collection kit, or schedule mobile phlebotomy? Contact our clinical coordinators at 617-209-2090 or info@variantyx.com.

Variantyx Inc. 1671 Worcester Road, Suite 300 Framingham MA 01701

617 209 2090info@variantyx.comwww.variantyx.com

Updated 10-23-2020Controlled document #: DCVXNTCSB0028

Test (included genes) Sequence analysis Del/dup analysis Tandem repeat expansion analysis of

Genomic Unity® Exome Analysis

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

All nuclear genes

Genomic Unity® Whole Genome Analysis

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

All nuclear genes plus mitochondrial genome analysis