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NGS Panels for Mental Health, Dementia and Neuro Genetics


General Genetic Testing | Cardiology Genetics | Epilepsy Genetics | Hematology | Mental Health & Neurogenetics | Metabolism | Mitochondrial Genetics | Muscle Genetics | Ophthalmics | Reprogenetics |Respiratory System | More Genetic Disorder Testing


Neurogenetics deal with the genetic factors that are responsible for normal and abnormal function of the nervous system. 

Some common known neurological diseases are Alzheimer's disease and Parkinson's disease. For these neurodegenerative diseases the causes are not always clear. The advances in neurogenetics enabled by next generation sequencing studies help to better understand the background of these diseases and will support the development of new treatments. 

Different genes are described to be associated with certain forms of neurological diseases. Exemplarily, some of these genes and the related syndromes are introduced: APOE ε4, APP, PSEN1, PSEN2 (Alzheimer dementia (AD)), COQ2 (Multiple system atrophy (MSA)), SNCA, LRRK2 (Parkinson's Disease (PD)), C9orf72 (amyotrophic lateral sclerosis (ALS)), and GRN, TARDBP, FUS, MAPT (frontotemporal dementia (FTD)) (Scholz and Bras 2015).

This website list a number of NGS gene panels that are recommend for diagnosis of different neurogenetics disorders such as : ALS, AMD, Angelman Syndrome, Charcot Marie Tooth Disease, hereditary spastic paraplegia (HSP), lissencephaly, macro- and microencephaly, EOFAD, and more.

For detailed information on the NGS panels please contact the corresponding provider. For more detailed information on neurogenetics we recommend the NIH National Institute of Neurological Disorders and Stroke.


Degeneration and Dementia - NGS Panels

Alzheimer dementia and dementia panel

Targeted genes: APOE, APP, PRNP, PSEN1, PSEN2, SORL1, TREM2

Source: Centogene

Alzheimer disease (NGS panel)

Targeted genes: APOE, APP, PRNP, PSEN1, PSEN2, SORL1, SNCA, SNCB

Source: CGC Genetics

Dementia panel

Targeted genes: APOE, APP, C9orf72, CHMP2B, CSF1R, FUS, GRN, MAPT, PRNP, PSEN1, PSEN2, SORL1, TARDBP, TREM2, UBE3A, VCP

Source: Centogene

Early Onset Familial Alzheimer Disease (EOFAD) NGS Panel

Targeted Genes: APP, PSEN1, PSEN2
Source: Fulgent Diagnostics

Frontotemporal dementia (NGS panel)

Targeted genes (13): CHCHD10, CHMP2B, CSF1R, FUS, GRN, HNRNPA1, HNRNPA2B1, MAPT, PSEN1, TARDBP, TUBA4A, UBQLN2, VCP

Source: CGC Genetics

Frontotemporal dementia panel

Targeted genes: CHMP2B, GRN, VCP, FUS, TARDBP, C9orf72, MAPT, SIGMAR1, UBQLN2

Source: Centogene

Hereditary dementias (NGS panel)

Targeted genes (28): APOE, APP, ATP13A2, CHCHD10, CHMP2B, CSF1R, DNMT1, FUS, GRN, HNRNPA1, HNRNPA2B1, ITM2B, MAPT, NOTCH3, PRNP, PSEN1, PSEN2, SNCA, SNCB, SORL1, TARDBP, TIMM8A, TREM2, TRPM7, TUBA4A, TYROBP, UBQLN2, VCP

Source: CGC Genetics


Developmental Delay & Intellectual Disability -NGS Panels

AUTOSOMAL RECESSIVE NON-SPECIFIC INTELLECTUAL DISABILITY PANEL

Targeted Genes
ADAT3 ALDH5A1 ALG6 ANK3 AP4B1 AP4E1 AP4M1 AP4S1 ARFGEF2 C12orf57 CA8 CC2D1A CLIP1 CNTNAP2 CRADD CRBN D2HGDH DDHD2 ERLIN2 EZR FBXO31 FMN2 GRIK2 HERC2 KCNJ10 KIAA1033 KPTN L2HGDH LINS MAN1B1 MED23 METTL23 NDST1 NRXN1 NSUN2 PCNT PGAP1 PRSS12 SLC25A1 SLC6A17 SOBP ST3GAL3 TAF2 TECR TRAPPC9 TTI2 TUSC3 VLDLR VPS13B ZC3H14 ZNF526

Disorders
Intellectual Disability
Autosomal recessive non-specific intellectual disability

Source: UCGS

Cerebellar ataxia panel

Targeted genes: ADCK3, APTX, COQ2, COQ9, DNMT1, FXN, PDSS1, PDSS2, POLG, SACS, SETX, SYNE1, TTPA, VLDLR

Source: Centogene

Cerebellar Hypoplasia NGS Panel

Targeted Genes: CASK, OPHN1, RARS2, SEPSECS, TSEN2, TSEN34, TSEN54, VRK1
Source: Fulgent Diagnostics

COMPREHENSIVE NON-SPECIFIC INTELLECTUAL DISABILITY SEQUENCING PANEL

Targeted Genes
ACSL4 ADAT3 ADNP AFF2 AGTR2 ALDH5A1 ALG6 ANK3 AP1S2 AP4B1 AP4E1 AP4M1 AP4S1 ARFGEF2 ARHGEF6 ARHGEF9 ARID1A ARID1B ARX ATP6AP2 ATRX BCOR BRWD3 C12orf57 CA8 CACNG2 CASK CC2D1A CCDC22 CDH15 CDKL5 CLIC2 CLIP1 CNTNAP2 CRADD CRBN CTCF CTNNB1 CUL4B D2HGDH DCX DDHD2 DEAF1 DLG3 DNMT3A DYNC1H1 DYRK1A EHMT1 EIF2S3 EPB41L1 ERLIN2 EZR FBXO31 FLNA FMN2 FMR1 FOXG1 FOXP1 FRMPD4 FTSJ1 GATAD2B GDI1 GRIA3 GRIK2 GRIN2A GRIN2B HCFC1 HERC2 HPRT1 HSD17B10 HUWE1 IDH2 IGBP1 IL1RAPL1 IQSEC2 KCNJ10 KDM5C KIAA1033 KIAA2022 KIF1A KIF4A KIRREL3 KLF8 KPTN L1CAM L2HGDH LINS MAGT1 MAN1B1 MAOA MBD5 MECP2 MED12 MED23 METTL23 MID1 MID2 NAA10 NDST1 NHS NLGN3 NLGN4X NRXN1 NSDHL NSUN2 OCRL OFD1 OPHN1 PACS1 PAK3 PCDH19 PCNT PDHA1 PGAP1 PHF6 PHF8 PLP1 PQBP1 PRPS1 PRSS12 PTCHD1 PURA RAB39B RAI1 RPL10 RPS6KA3 SCN2A SETD5 SHANK2 SHANK3 SHROOM4 SLC16A2 SLC25A1 SLC6A17 SLC6A8 SLC9A6 SMARCB1 SMC1A SMS SOBP SOX11 SRPX2 ST3GAL3 SYN1 SYNGAP1 SYP TAF2 TCF4 TECR TRAPPC9 TSPAN7 TTI2 TUBA1A TUSC3 UBE2A UBE3A UPF3B VLDLR VPS13B ZC3H14 ZDHHC15 ZDHHC9 ZEB2 ZMYND11 ZNF41 ZNF526 ZNF674 ZNF711 ZNF81

Source: UCGS

devACT® Clinical Management Panel

devACT® Clinical Management Panel is a Next Generation Sequencing panel focused on genes that inform actionableclinical management of patients with Developmental Delay, Intellectual Disability, and Autism Spectrum Disorders. Courtagen’s devACT® Clinical Management Panel provides the rapid analysis of genes that can inform meaningful treatment options while potentially avoiding both costly and invasive alternative diagnostic procedures.
Source: Courtagen

Website

Intellectual Disability NGS Panel

Number of Targeted Genes: 391
Source: Fulgent Diagnostics

Invitae Ciliopathies Sensory Panel

The Invitae Sensory Ciliopathies Panel analyzes 39 genes that are important for the development and maintenance of the primary cilium, the sensory organelle of the cell. These genes are associated with a group of disorders known as sensory ciliopathies, and were selected, based on the available evidence to date, to provide a comprehensive test for the diagnosis of these disorders.
Ciliopathies share many overlapping symptoms, which makes clinical distinction between them difficult to determine. The Invitae Sensory Ciliopathies panel test may be indicated for patients whose clinical features can be associated with several ciliopathies, including Joubert syndrome and related disorders (JSRD), Bardet-Biedl syndrome (BBS), nephronophthisis, Meckel syndrome, and Jeune asphyxiating thoracic dystrophy.
Source: Invitae

Mental retardation, X-linked (NGS panel)

Targeted genes (89): ABCD1, ACSL4, AFF2, AP1S2, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCOR, BRWD3, CASK, CDKL5, CLIC2, CUL4B, DCX, DKC1, DLG3, DMD, FANCB, FGD1, FLNA, FMR1, FTSJ1, GDI1, GK, GPC3, GRIA3, HCCS, HCFC1, HDAC8, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IL1RAPL1, IQSEC2, KDM5C, KIAA2022, KIF4A, L1CAM, LAMP2, MAOA, MBTPS2, MECP2, MED12, MID1, MID2, NDP, NDUFA1, NHS, NLGN4X, NSDHL, OCRL, OFD1, OPHN1, OTC, PAK3, PCDH19, PDHA1, PGK1, PHF6, PHF8, PLP1, PORCN, PQBP1, PRPS1, RAB39B, RPS6KA3, SHROOM4, SLC16A2, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SRPX2, SYN1, SYP, TIMM8A, TSPAN7, UBE2A, UPF3B, USP9X, ZDHHC9, ZNF711, ZNF81

Source: CGC Genetics

X-LINKED NON-SPECIFIC INTELLECTUAL DISABILITY SEQUENCING PANEL

Targeted Genes
ACSL4 AFF2 AP1S2 ARHGEF6 ARHGEF9 ARX ATP6AP2 ATRX BCOR BRWD3 CASK CCDC22 CDKL5 CLIC2 CUL4B DCX DLG3 EIF2S3 FLNA FMR1 FRMPD4 FTSJ1 GDI1 GRIA3 HCFC1 HPRT1 HSD17B10 HUWE1 IGBP1 IL1RAPL1 IQSEC2 KDM5C KIAA2022 KIF4A KLF8 L1CAM MAOA MECP2 MED12 MID1 MID2 NAA10 NHS NLGN3 NLGN4Z NSDHL OCRL OFD1 OPHN1 PAK3 PCDH19 PDHA1 PHF6PHF8 PLP1 PQBP1 PRPS1 PTCHD1 RAB39B RPL10 RPS6KA3 SHROOM4 SLC16A2 SLC6A8 SLC9A6 SMC1A SMS SRPX2 SYN1 SYP TSPAN7 UBE2A UPF3B ZDHHC15 ZDHHC9 ZNF711 ZNF81

Disorders
Intellectual Disability
X-linked non-specific intellectual disability

Source: UCGS

XLID Next-Gen Panel™

The Ambry XLID Next-Gen Panel™ targets detection of mutations in 81 genes by either Next-Generation or Sanger sequencing of all coding domains plus at least 10 bases into the 5’ and 3’ ends of all the introns.
Source: Ambry Genetics


Multiple Sclerosis - NGS Panel

MSPrecise

MSPrecise® is a proprietary next-generation DNA sequencing (NGS) assay for the identification of patients with relapsing-remitting multiple sclerosis (RRMS) at first clinical presentation. MSPrecise utilizes next-generation sequencing to measure DNA mutations found in rearranged immunoglobulin genes in immune cells initially isolated from cerebrospinal fluid. MSPrecise would augment the current standard of care for the diagnosis of MS by providing a more accurate assessment of a patient's immune response to a challenge within the central nervous system.
Source: Amarantus

Website


Neurogenetics & Brain - NGS Panels

Aicardi-Goutieres syndrome

Targeted genes: ADAR, IFIH1, TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1

Source: CGC Genetics

Aicardi-Goutières Syndrome

Multi Gene Panel (6 Genes)
Targeted genes: ADAR RNASEH2A RNASEH2B RNASEH2C SAMHD1 TREX1
Source: Medical Genetics Center

Aicardi-Goutieres syndrome panel

Targeted genes: ADAR, IFIH1, TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1

Source: Centogene

AllNeuro panel

Targeted genes: A2M, AAAS, AANAT, AARS, AARS2, AASS, ABAT, ABCA1, ABCB7, ABCC6, ABCC8, ABCD1, ABCD4, ABHD12, ABHD5, ACACA, ACAD9, ACADM, ACADS, ACADSB, ACAT1, ACE, ACO2, ACOX1, ACSF3, ACSL4, ACTA1, ACTA2, ACTB, ACTG1, ACVRL1, ACY1, ADAM10, ADAR, ADCK3, ADK, ADSL, AFF2, AFG3L2, AGA, AGK, AGRN, AGTR2, AGXT, AHCY, AHI1, AIFM1, AIMP1, AKT1, AKT3, ALAD, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALOX5AP, ALS2, ALX1, ALX3, ALX4, AMACR, AMN, AMPD1, AMT, ANG, ANK3, ANKRD11, ANO10, ANO5, AP1S1, AP3B1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APOA1, APOE, APP, APTX, AR, ARFGEF2, ARG1, ARHGAP31, ARHGEF10, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARL13B, ARL6, ARSA, ARSB, ARSE, ARX, ASAH1, ASCL1, ASL, ASNS, ASPA, ASPM, ASS1, ASXL1, ATCAY, ATIC, ATL1, ATM, ATP10A, ATP13A2, ATP1A2, ATP1A3, ATP2A1, ATP2A2, ATP5E, ATP6AP2, ATP6V0A2, ATP7A, ATP8A2, ATPAF2, ATR, ATRX, B3GALTL, B4GALT1, B9D1, B9D2, BAG3, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCOR, BCS1L, BDNF, BIN1, BLOC1S3, BLOC1S6, BOLA3, BRAF, BRAT1, BRWD3, BSCL2, BSND, C10orf2, C12orf57, C12orf65, C19orf12, C5orf42, C9orf72, CA8, CACNA1A, CACNA1D, CACNA1H, CACNA1S, CACNB4, CACNG2, CAMTA1, CASC5, CASK, CASR, CBL, CC2D1A, CC2D2A, CCDC28B, CCDC88C, CCM2, CCT5, CD207, CD320, CD36, CD59, CD96, CDH15, CDK11A, CDK5RAP2, CDKL5, CDON, CENPJ, CEP135, CEP152, CEP290, CEP41, CEP63, CFL2, CHAT, CHD2, CHD8, CHMP2B, CHRM3, CHRNA1, CHRNA2, CHRNA4, CHRNB1, CHRNB2, CHRND, CHRNE, CHSY1, CISD2, CISH, CLCN1, CLCN2, CLCNKA, CLCNKB, CLIC2, CLN3, CLN5, CLN6, CLN8, CNBP, CNTN1, CNTNAP2, CNTNAP4, COA5, COG1, COG4, COG5, COG6, COG7, COG8, COL18A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COL7A1, COLQ, COX10, COX15, COX6B1, CPA6, CPT2, CR1, CRADD, CRBN, CREBBP, CRYAB, CSF1R, CSF2RB, CST3, CSTB, CTC1, CTDP1, CTNNB1, CTSD, CUL4B, CYP11B2, CYP27A1, CYP7B1, DARC, DARS2, DBT, DCAF17, DCTN1, DCX, DDOST, DES, DGUOK, DHCR7, DHH, DIAPH3, DKC1, DLD, DLG3, DMD, DNAH9, DNAJB2, DNAJC19, DNAJC5, DNAJC6, DNM1L, DNM2, DNMT1, DOCK8, DOK7, DOLK, DPAGT1, DPM1, DPM3, DRD2, DRD3, DSC3, DST, DTNBP1, DUX4, DYNC1H1, DYNC2H1, DYRK1A, EARS2, EBP, EDN3, EDNRB, EFHC1, EFTUD2, EGR2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF4E, EIF4G1, ELOVL4, EMX2, ENTPD1, EP300, EPB41L1, EPM2A, ERBB4, ERCC1, ERCC2, ERCC5, ERCC6, ERLIN2, ESCO2, ETHE1, EXOSC3, F2, F5, FA2H, FADD, FAM126A, FAM134B, FANCB, FASTKD2, FBXO7, FCGR2B, FGA, FGD1, FGD4, FGF10, FGF14, FGFR1, FGFR2, FGFR3, FH, FHL1, FIG4, FKRP, FKTN, FLNA, FLVCR1, FLVCR2, FOLR1, FOXG1, FOXP1, FOXP2, FOXP3, FOXRED1, FREM1, FRG1, FRMD7, FTL, FTO, FTSJ1, FUS, FXN, FZD9, GAA, GABRA1, GABRB3, GABRD, GABRG2, GAD1, GALC, GALNS, GAMT, GAN, GARS, GATM, GBA, GBE1, GCH1, GCSH, GDAP1, GDI1, GDNF, GFER, GFM1, GFPT1, GIGYF2, GJB1, GJB3, GJC2, GK, GLB1, GLDC, GLI2, GLI3, GLRA1, GLRB, GM2A, GNPAT, GNS, GOSR2, GP1BA, GPC3, GPR143, GPR56, GPR98, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIP1, GRM1, GRN, GSN, GUSB, HADHA, HADHB, HCCS, HDAC4, HDAC8, HEPACAM, HERC2, HESX1, HEXA, HEXB, HFE, HGSNAT, HK1, HMGCS2, HPD, HPRT1, HPS1, HPS3, HPS4, HPS5, HPS6, HPSE2, HRAS, HSD17B10, HSD17B4, HSPB1, HSPB3, HSPB8, HSPD1, HTRA1, HTRA2, HTT, HUWE1, HYAL1, ICAM1, ICK, IDS, IDUA, IER3IP1, IFRD1, IFT140, IGBP1, IGF1, IGHMBP2, IKBKAP, IKBKG, IL11RA, IL1RAPL1, IL1RN, IL4, INF2, INS, IQSEC2, IRX5, ITM2B, ITPR1, KANK1, KARS, KAT6B, KCNA1, KCNC3, KCND3, KCNE1L, KCNJ1, KCNJ10, KCNJ11, KCNK18, KCNK9, KCNMA1, KCNQ2, KCNQ3, KCTD7, KDM5C, KDM6A, KIAA0196, KIAA0226, KIAA1279, KIAA2022, KIF11, KIF1A, KIF1B, KIF21A, KIF5A, KIF7, KIRREL3, KMT2D, KRAS, KRIT1, KRT5, L1CAM, LAMA2, LAMB1, LAMB2, LAMP2, LARGE, LBR, LGI1, LHX4, LINS, LITAF, LMBRD1, LMNA, LMNB1, LPIN2, LRP2, LRPPRC, LRRK2, LRSAM1, LYZ, LZTFL1, MAGI2, MAGT1, MAN1B1, MAOA, MAPT, MARS2, MASP1, MATR3, MBD5, MBTPS2, MCEE, MCPH1, MECP2, MED12, MED17, MED23, MED25, MEF2C, MET, MFN2, MFSD8, MGAT2, MID1, MKKS, MKS1, MLC1, MMAA, MMAB, MMACHC, MMADHC, MOGS, MPDU1, MPDZ, MPI, MPV17, MPZ, MRE11A, MSX1, MSX2, MTFMT, MTHFR, MTM1, MTMR14, MTMR2, MTO1, MTPAP, MTR, MTRR, MUSK, MUT, MVK, MYCN, MYF6, MYH14, MYH7, MYH9, MYO5A, MYOT, NAA10, NAGA, NAGLU, NAT8L, NBN, NDE1, NDN, NDP, NDRG1, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NEFH, NEFL, NEU1, NF1, NFIX, NFU1, NGF, NHEJ1, NHLRC1, NHS, NIPA1, NIPBL, NKX2-1, NLGN3, NLGN4X, NLRP12, NLRP3, NOD2, NOG, NOP56, NOS2, NOS3, NOTCH2, NOTCH3, NPC1, NPC2, NPHP1, NPHP3, NRAS, NRG1, NRXN1, NSD1, NSDHL, NSUN2, NTRK1, NTRK2, NUBPL, OCLN, OCRL, OFD1, OPA1, OPA3, OPHN1, OPTN, ORC1, OTC, PAFAH1B1, PAH, PAK3, PANK2, PARK2, PARK7, PAX6, PC, PCBD1, PCDH19, PCK2, PCNT, PDCD10, PDE8B, PDHA1, PDYN, PEX1, PEX7, PFN1, PGK1, PGM1, PHF6, PHF8, PHOX2B, PHYH, PIEZO2, PIGA, PIGL, PIGN, PIGO, PIGV, PIK3CA, PIK3R2, PIK3R5, PINK1, PLA2G6, PLCB1, PLEC, PLEKHG4, PLEKHG5, PLP1, PMM2, PMP22, PNKD, PNKP, PNPLA6, PNPO, POLG, POLG2, POLR3A, POLR3B, POMGNT1, POMT1, POMT2, PORCN, PPT1, PQBP1, PREPL, PRICKLE1, PRICKLE2, PRKAG2, PRKCG, PRKCH, PRKRA, PRNP, PROP1, PRPH2, PRPS1, PRRT2, PRRX1, PRSS12, PRX, PSAP, PSEN1, PSEN2, PTCH1, PTEN, PTF1A, PTPN11, PTS, PUS1, PVRL1, QDPR, RAB39B, RAB3GAP1, RAB3GAP2, RAB40AL, RAB7A, RABGGTA, RAD21, RAD50, RAF1, RAI1, RANBP2, RAPSN, RARS2, RBBP8, RBM10, RBM8A, REEP1, RELN, RET, RFT1, RIN2, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF135, RNF170, RNU4ATAC, ROGDI, ROR2, RPGRIP1L, RPL10, RPS6KA3, RRM2B, RTN2, RYR1, SACS, SAMHD1, SBF2, SCARB2, SCN10A, SCN1A, SCN1B, SCN2A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1, SCO2, SCP2, SDCCAG8, SDHA, SDHAF1, SEPSECS, SERPINI1, SETBP1, SETX, SGCE, SGSH, SH3TC2, SHANK2, SHH, SHOC2, SHROOM4, SIGMAR1, SIX3, SIX6, SKI, SLC12A6, SLC16A2, SLC17A5, SLC19A3, SLC1A3, SLC20A2, SLC25A12, SLC25A19, SLC25A22, SLC25A3, SLC25A4, SLC2A1, SLC30A10, SLC33A1, SLC35A1, SLC35C1, SLC3A1, SLC4A1, SLC4A4, SLC5A7, SLC6A3, SLC6A5, SLC6A8, SLC9A6, SLC9A9, SMARCA2, SMARCA4, SMARCAD1, SMARCB1, SMC1A, SMC3, SMN1, SMN2, SMPD1, SMS, SNAP29, SNCA, SNCAIP, SNIP1, SNX3, SOBP, SOD1, SORL1, SOS1, SOX10, SOX3, SPAST, SPG11, SPG20, SPG21, SPG7, SPR, SPTAN1, SPTBN2, SPTLC1, SPTLC2, SRD5A3, SRPX2, ST3GAL3, ST3GAL5, STIL, STRADA, STXBP1, SUCLA2, SUCLG1, SURF1, SYN1, SYNE1, SYNGAP1, SYP, SYT14, TACO1, TAF1, TAF2, TARDBP, TAS2R38, TAZ, TBC1D24, TBCE, TBP, TBX1, TCF4, TCTN1, TCTN2, TDP1, TECR, TFAP2A, TFAP2B, TG, TGFB1, TGFB2, TGFBR1, TGFBR2, TGIF1, TGM6, TH, THAP1, TICAM1, TIMM8A, TIRAP, TK2, TLR3, TLR5, TMCO1, TMEM126A, TMEM138, TMEM165, TMEM216, TMEM237, TMEM67, TMEM70, TMLHE, TNF, TNFSF4, TOR1A, TP63, TPK1, TPM3, TPP1, TRAF3, TRAPPC9, TREM2, TREX1, TRIM32, TRPM6, TRPM7, TRPS1, TRPV4, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSHR, TSPAN7, TTBK2, TTC19, TTC21B, TTC8, TTI2, TTPA, TTR, TUBA1A, TUBA8, TUBB2B, TUBB3, TUBGCP6, TUSC3, TWIST1, TYMP, TYROBP, UBA1, UBE2A, UBE3A, UBQLN2, UCHL1, UMPS, UNC93B1, UPB1, UPF3B, UQCRB, UQCRQ, USP9X, VANGL1, VAPB, VAX1, VCP, VEGFA, VHL, VIPAS39, VLDLR, VPS13A, VPS13B, VPS35, VRK1, WDPCP, WDR45, WDR62, WDR81, WFS1, WNK1, WNT10A, WNT3, WNT5A, WNT7A, WWOX, XBP1, XK, YAP1, YARS, YWHAE, ZBTB16, ZBTB18, ZDHHC15, ZDHHC9, ZEB2, ZFYVE26, ZFYVE27, ZIC2, ZIC3, ZNF335, ZNF41, ZNF592, ZNF674, ZNF711, ZNF81

Source: Centogene

Amyotrophic Lateral Sclerosis (ALS) and Phenocopies

Multi Gene Panel (23 Genes)
Targeted genes: ALS2 ANG BICD2 BSCL2 CHCHD10 DCTN1 FIG4 FUS GBE1 HEXA MATR3 OPTN REEP1 SETX SLC52A2 SLC52A3 SOD1 SPG11 SQSTM1 TARDBP UBQLN2 VAPB VCP
Source: Medical Genetics Center

Amyotrophic Lateral Sclerosis NGS Panel

Targeted Genes: ABCC2, ABCD1, ABCG5, ABHD12, ACAD8, ALS2, ANG, ATXN2, C9orf72, CHGB, CHMP2B, CRYM, DAO, DCTN1, ERBB4, FIG4, FUS, LUM, MATR3, NEFH, OPTN, PFN1, PRPH, PRPH2, SETX, SIGMAR1, SOD1, SPG11, SPG20, SQSTM1, TAF15, TARDBP, UBQLN2, VAPB, VCP, VEGFA
Source: Fulgent Diagnostics

Amyotrophic lateral sclerosis (ALS) panel

Targeted genes: ALS2, ANG, ATXN2, C9orf72, CHMP2B, CHGB, DCTN1, FIG4, FUS, NEFH, OPTN, PFN1, PRPH2, SETX, SIGMAR1, SOD1, SPG20, TARDBP, UBQLN2, VAPB, VCP, VEGFA, VPS54

Source: Centogene

Asper Neurogenetics

Asper Neurogenetics includes genetic tests for the diagnostics of diseases with neurologic and metabolic involvement.

Diseases involved in the testing portfolio are genetically and phenotypically heterogeneous group of severe disorders such as inherited neuropathies and mitochondrial diseases. For the diagnostics of diseases with an overlapping spectrum of phenotypes, we offer a comprehensive variety of tests with different testing strategies.
Source: Asper Biotech

Website

Ataxia

Multi Gene Panel (34 Genes)
Targeted genes: ABCB7 ADCK3 APTX ARG1 ASL ASS1 ATM BCKDHA BCKDHB C12orf65 CACNA1A CACNA1C CACNB4 CPS1 DARS2 DBT IVD KCNA1 KCNA4 OTC PDHA1 POLG PRRT2 SACS SETX SLC1A3 SLC25A15 SLC2A1 SLC2A10 SLC52A2 SLC52A3 SLC6A19 TACO1 TTC19
Source: Medical Genetics Center

AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY TIER 2 SEQUENCING PANEL

Our Autosomal Recessive Primary Microcephaly series employs testing in a sequential manner. Tier 1 includes sequence and deletion/duplication analysis of ASPM, which is the most common gene associated with autosomal recessive primary microcephaly. Tier 2 is our Autosomal Recessive Primary Microcephaly panel, which includes sequence analysis of 18 genes and deletion/duplication analysis of 16 genes.

Targeted genes: CASC5 CDK5RAP2 CDK6 CENPJ CEP135 CEP152 CEP63 MCPH1 MED17 NDE1 PHC1 PNKP SLC25A19 STAMBP STIL WDR62 ZNF335

Source: UCGS

Brain Malformations / Neuronal Migration Disorders

Multi Gene Panel (266 Genes)
Targeted genes: ACSL4 ADAR AFF2 AGTR2 AKT1 AKT3 ALDH7A1 AP1S2 APP ARFGEF2 ARHGEF15 ARHGEF6 ARID1A ARID1B ARX ASAH1 ASPA ASPM ATP13A2 ATP6AP2 ATRX BRWD3 C19orf12 CACNA1H CACNB4 CASK CASR CCND2 CDK5RAP2 CDKL5 CDKN1C CDON CECR1 CENPJ CEP152 CHD2 CHD7 CHD8 CHRNA2 CHRNA4 CHRNB2 CLCN4 CLN3 CLN5 CLN6 CLP1 CNTNAP2 COL4A1 COL4A2 CP CSTB CUL4B CYP27A1 DARS DCAF17 DCX DEPDC5 DIS3L2 DISP1 DKC1 DLG3 DOK7 DYRK1A EEF1A2 EFHC1 EHMT1 EIF2B3 EIF2B5 EIF2S3 EOMES EPM2A EXOSC3 EZH2 FA2H FANCB FGD1 FGF8 FGFR3 FH FLNA FMR1 FOXG1 FOXH1 FTL FTSJ1 GABRA1 GABRD GABRG2 GALC GAMT GDI1 GK GLDC GLI2 GLI3 GNAQ GOSR2 GPC3 GPR56 GPSM2 GRIA3 GRIN2A HCFC1 HCN1 HDAC8 HEPACAM HERC2 HGSNAT HNRNPDL HPRT1 HSD17B10 HTRA1 HUWE1 IDS IGBP1 IKBKAP IL1RAPL1 IQSEC2 ITM2B JAM3 KCNH5 KCNQ2 KCNQ3 KCNT1 KCTD7 KDM5C KDM6A KIAA1279 KIAA2022 KIF2A KIF5C KIF7 KLF8 KPTN L1CAM LGI1 MAGT1 MAOA MBD5 MBTPS2 MECP2 MED12 MEF2C MID1 MLC1 MYBPC1 NAA10 NDE1 NEU1 NFIX NHLRC1 NIPBL NLGN3 NLGN4X NODAL NOL3 NOTCH3 NRXN1 NSD1 NSDHL NXF5 OCLN OFD1 OPHN1 PAFAH1B1 PAK3 PANK2 PCDH19 PGK1 PHF6 PHF8 PHGDH PIK3CA PIK3R2 PLA2G6 PLCB1 PNKP PNPO POLR3A POLR3B PORCN PPT1 PQBP1 PRICKLE1 PRICKLE2 PRRT2 PTCH1 PTCHD1 PTEN QARS RAB39B RAB40AL RAD21 RBM10 RELN RNASEH2A RNASEH2B RNASEH2C RNF135 RPL10 RPS6KA3 SAMHD1 SCARB2 SCN1A SCN1B SCN2A SCN8A SEPSECS SETD2 SGCE SGSH SHROOM4 SLC16A2 SLC25A22 SLC2A1 SLC9A6 SMARCA2 SMARCA4 SMARCB1 SMARCE1 SMC1A SMC3 SMS SOX3 SPTAN1 SRPX2 STIL STUB1 STXBP1 SYN1 SYNGAP1 SYNJ1 SYP TBC1D24 TBC1D7 TCF4 TDGF1 THOC2 TPP1 TREX1 TSC1 TSC2 TSPAN7 TUBA1A TUBA8 TUBB TUBB2A TUBB2B TUBB3 TUBB4A TUBG1 UBE2A UBE3A UPF3B VPS13A WDR45 WDR62 XK ZDHHC15 ZDHHC9 ZEB2 ZMYM3 ZNF41 ZNF674 ZNF711 ZNF81
Source: Medical Genetics Center

Cerebral Cavernous Malformations (CCM) Panel

Targeted genes: CCM2, KRIT1, PDCD10

Source: GeneDx

Cerebral cavernous malformations panel

Targeted genes: CCM2, KRIT1, PDCD10

Source: Centogene

CEREBRAL CORTICAL MALFORMATIONS DELETION/DUPLICATION PANEL

Targeted genes: ACTG1 ARX DCX FKRP FKTN GPR56 KIAA1279 LAMC3 LARGE LIS1 OCLN PAFAH1B1 POMGNT1 POMT1 POMT2 RAB18 RAB3GAP1 RAB3GAP2 RELN RTTN TUBA1A TUBA8 TUBB2B TUBB3 VLDLR

Comprehensive sequence coverage of the coding regions and splice junctions of all genes in this panel is performed. Targets of interests are enriched and prepared for sequencing using the Agilent SureSelect system. Sequencing is performed using Illumina technology and reads are aligned to the reference sequence. Variants are identified and evaluated using a custom collection of bioinformatic tools and comprehensively interpreted by our team of directors and genetic counselors. All novel and/or potentially pathogenic variants are confirmed by Sanger sequencing. The technical sensitivity of this test is estimated to be >99% for single nucleotide changes and insertions and deletions of less than 20 bp.

Source: UCGS

Ceroid lipofuscinosis panel

Targeted genes: CLN3, CLN5, CLN6, CLN8, CTSD, DNAJC5, MFSD8, PPT1, TPP1
Source: Centogene

Charcot-Marie-Tooth disease (NGS panel)

Targeted genes (43): AARS, AIFM1, C12orf65, COX6A1, DHTKD1, DNM2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1, GNB4, HK1, HOXD10, HSPB1, HSPB8, IGHMBP2, INF2, KARS, KIF1B, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, PDK3, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, SBF1, SBF2, SH3TC2, TRIM2, TRPV4, YARS

Source: CGC Genetics

Charcot Marie Tooth Disease Extended NGS Panel

Targeted Genes: (49) AARS, ATL1, ATP7A, BSCL2, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, FAM134B, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GLA, HSPB1, HSPB8, IGHMBP2, IKBKAP, KIF1A, KIF1B, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, REEP1, SBF2, SCN9A, SH3TC2, SLC12A6, SPTLC1, SPTLC2, TRPV4, TTR, WNK1
Source: Fulgent Diagnostics

CMT neuropathy axonal autosomal dominant panel

Targeted genes: AARS, ARHGEF10, DNM2, GAN, GARS, GDAP1, DYNC1H1, HSPB8, HSPB1, KIF1B, LMNA, MED25, MFN2, MPZ, NEFL, RAB7A, SLC12A6, TRPV4, YARS

Source: Centogene

COBBLESTONE LISSENCEPHALY SEQUENCING PANEL

Targeted genes:
ATP6V0A2 B3GALNT2 B3GNT1 FKRP FKTN GMPPB ISPD LAMA2 LAMB1 LARGE POMGNT1 POMGNT2 POMK POMT1 POMT2 SNAP29 SRD5A3 TMEM5

Source: UCGS

Comprehensive Brain Malformations Panel

Targeted genes: ACTB, ACTG1, ADGRG1, AHI1, AKT3, ARFGEF2, ARL13B, ARX, ASPM, ATP6V0A2, B3GALNT2, B3GNT1, B9D1, C5orf42, CASK, CC2D2A, CCND2, CEP290, CEP41, CHMP1A, CLP1, CSPP1, CUL4B, DCX, DYNC1H1 , ERMARD, EXOSC3, FAT4, FKRP, FKTN, FLNA, GMPPB, GPSM2, IFT172, INPP5E, ISPD, KIAA1279, KIF2A, KIF5C, KIF7, LAMB1, LAMC3, LARGE, MKS1, NDE1, NPHP1, NPHP3, OCLN, OFD1 (CXORF5), OPHN1, PAFAH1B1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RARS2, RELN, RPGRIP1L, RTTN, SEPSECS, SRD5A3, SRPX2, TBC1D20, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM5, TMEM67, TSEN2, TSEN34, TSEN54, TTC21B, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, VLDLR, VPS53, VRK1, WDR62

Disorders:
Joubert Syndrome
Macrocephaly
Microcephaly
Pontocerebellar Hypoplasia (PCH)

Source: GeneDx

Comprehensive Hereditary Spastic Paraplegia Panel

Targeted genes: AP4B1, AP4E1, AP4M1, AP4S1, ATL1, B4GALNT1, BSCL2 , C12ORF65, CYP2U1, CYP7B1, DDHD1, DDHD2, ERLIN2, FA2H, GBA2, GJC2, KIAA0196, KIF1A , KIF1C, KIF5A, L1CAM, NIPA1, NT5C2, PLP1, PNPLA6, REEP1 (C2ORF23), RTN2, SLC16A2, SPAST, SPG11, SPG20, SPG21, SPG7, TECPR2, VPS37A, ZFYVE26

Disorders:
Complicated Hereditary Spastic Paraplegias
Hereditary Spastic Paraplegia
Uncomplicated Hereditary Spastic Paraplegias

Source: GeneDx

COMPREHENSIVE LISSENCEPHALY PANEL

Targeted genes: ACTB ACTG1 ARX ATP6VOA2 B3GALNT2 B3GNT1 DCX FKRP FKTN GMPPB ISPD LAMA2 LAMB1 LARGE NDE1 PAFAH1B1 POMGNT1 POMGNT2 POMT1 POMT2 RELN SNAP29 SRD5A3 TMEM5 TUBA1A VLDLR

Source: UCGS

COMPREHENSIVE PRIMORDIAL DWARFISM SEQUENCING PANEL

Targeted Genes
ATR CDC6 CDT1 CENPJ CEP152 CEP63 LARP7 LIG4 NIN ORC1 ORC4 ORC6 PCNT POC1A RBBP8 RNU4ATAC

Disorders
Microcephalic Osteodysplastic, Primordial Dwarfism type II, Seckel Syndrome, Meier-Gorlin syndrome, Primordial dwarfism, Microcephalic Osteodysplastic Primordial Dwarfism type I

Source: UCGS

Congenital Myasthenic Syndrome NGS Panel

Targeted Genes: AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DOK7, GFPT1, MUSK, RAPSN, SCN4A
Source: Fulgent Diagnostics

Cortical Brain Malformations Panel

Targeted genes:
ACTB, ACTG1, ADGRG1, AKT3, ARFGEF2, ARX, ASPM, ATP6V0A2, B3GALNT2, B3GNT1, CCND2, CUL4B, DCX, DYNC1H1 , ERMARD, FAT4, FKRP, FKTN, FLNA, GMPPB, GPSM2, ISPD, KIAA1279, KIF2A, KIF5C, LAMB1, LAMC3, LARGE, NDE1, OCLN, PAFAH1B1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RELN, RTTN, SRD5A3, SRPX2, TBC1D20, TMEM5, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, VLDLR, WDR62

Source: GeneDx

Dejerine-Sottas syndrome panel

Targeted genes: MPZ, PMP22, PRX, EGR2, GJB1

Source: Centogene

Demyelinating CMT Panel

Targeted genes: DNM2 , EGR2 , FGD4 , FIG4, GDAP1 , GJB1 , INF2, LITAF , MFN2, MPZ , MTMR2 , NDRG1 , NEFL , PMP22 , PRPS1 , PRX , SBF2 , SH3TC2 , YARS

Disorder:
Charcot Marie Tooth (CMT)

Source: GeneDx

Distal Hereditary Motor Neuropathy NGS Panel

Targeted Genes: ATP7A, BSCL2, DCTN1, DNMT1, FIG4, GAN, GARS, HSPB1, HSPB8, IGHMBP2, MEGF10, REEP1, SETX, SLC5A7, TRPV4
Source: Fulgent Diagnostics

Episodic ataxia panel

Targeted genes: CACNA1A, CACNB4, KCNA1, SLC1A3

Source: Centogene

FACIAL DYSOSTOSIS SEQUENCING PANEL

Targeted Genes
ALX1 ALX3 ALX4 CHD7 DHODH EFNB1 EFTUD2 EVC EVC2 MYCN PDE4D POLR1C POLR1D PRKAR1A SF3B4 TCOF1 ZSWIM6

Disorders
CHARGE syndrome, Miller syndrome, Mandibulofacial dysostosis with microcephaly, Feingold syndrome, Treacher Collins syndrome, Nager syndrome

Source: UCGS

Familial Hemiplegic Migraine

Multi Gene Panel (5 Genes)
Targeted genes: ATP1A2 ATP1A3 CACNA1A SCN1A SLC2A1
Source: Medical Genetics Center

Familial hemiplegic migraine panel

Targeted genes: ATP1A2, CACNA1A, SCN1A

Source: Centogene

Fetal akinesia / Arthrogryposis Multiplex Congenital (AMC)

Multi Gene Panel (164 Genes)
Targeted genes:
ABHD5 ACADM ACADS ACADVL ACTA1 ACTB ACTG1 ADCY6 ADSL AGL AGRN AIMP1 ALG14 ALG2 ANO5 B3GALNT2 B3GNT1 BAG3 BICD2 BIN1 CAPN3 CAV3 CCDC78 CFL2 CHAT CHKB CHRNA1 CHRNB1 CHRND CHRNE CHST14 CNTN1 CNTNAP1 COL6A1 COL6A2 COL6A3 COLQ CPT2 CRYAB CTDP1 CUL4B DES DMD DNAJB6 DNM2 DOK7 DPAGT1 DPM2 DYNC1H1 DYSF ECEL1 EGR2 EMD ERBB3 ERCC6 ETFA ETFB ETFDH EXOSC3 FAM20C FBN2 FGFR2 FHL1 FKBP10 FKBP14 FKRP FKTN FLNB FLNC GAA GARS GBA GBE1 GDAP1 GFPT1 GLE1 GMPPB GNE HADH HADHA HADHB HRAS HSPG2 IBA57 IGHMBP2 ISCU ISPD ITGA7 KBTBD13 KLHL40 LAMA2 LAMP2 LARGE LAS1L LDB3 LMNA LPIN1 MATR3 MEGF10 MFN2 MPZ MTM1 MTMR1 MUSK MYBPC1 MYH2 MYH3 MYH7 MYH8 MYOT NEB NEFL PFKM PIEZO2 PIP5K1C PLEC PLOD2 PNPLA2 POLG POMGNT1 POMGNT2 POMK POMT1 POMT2 PYGM RAPSN RIPK4 RRM2B RYR1 SEPN1 SEPSECS SGCA SGCB SGCD SGCG SIL1 SLC22A5 SLC35A3 SLC52A3 SNAP25 SYNE1 SYNE2 TCAP TK2 TMEM43 TMEM5 TNNI2 TNNT1 TNNT3 TPM2 TPM3 TRIM32 TRPV4 TSEN2 TSEN34 TSEN54 TTN UBA1 UTRN VIPAS39 VPS33B ZBTB42 ZC4H2 ZMPSTE24
Source: Medical Genetics Center

Hereditary ataxias (NGS panel)

Targeted genes (44): PNKP, ABCB7, ABHD12, ADCK3, AFG3L2, ANO10, APTX, ATM, CACNA1A, CACNB4, CCDC88C, DNMT1, EEF2, ELOVL4, ELOVL5, FGF14, FXN, ITPR1, KCNA1, KCNC3, KCND3, MRE11A, MTPAP, MTTP, PDYN, PIK3R5, PLEKHG4, POLG, PRKCG, SACS, SETX, SIL1, SLC1A3, SPTBN2, SYNE1, SYT14, TDP1, TGM6, TMEM240, TTBK2, TTPA, VAMP1, VLDLR, ZNF592

Source: CGC Genetics

Hereditary Neuropathies NGS Panel

Targeted Genes: (33) AARS, ATL1, DNM2, DNMT1, DYNC1H1, EGR2, FGD4, GARS, GDAP1, GJB1, GLA, HSPB1, HSPB8, KIF1B, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, PMP22, PRX, RAB7A, SBF2, SCN9A, SH3TC2, SPTLC2, TRPV4, TTR, YARS
Source: Fulgent Diagnostics

Hereditary Neuropathy Panel

Targeted genes: AARS, ATL1, ATP7A, BSCL2 , DNAJB2 , DNM2 , DNMT1 , DYNC1H1 , EGR2 , FAM134B , FGD4 , FIG4, GAN , GARS, GDAP1 , GJB1 , GLA, HINT1, HSPB1 , HSPB8 , IGHMBP2, IKBKAP , INF2, KIF1A , KIF5A, LITAF , LMNA, LRSAM1 , MFN2, MPZ , MTMR2 , NDRG1 , NEFL , NGF , NTRK1, PLEKHG5 , PMP22 , PRPS1 , PRX , RAB7A, REEP1 (C2ORF23), SBF2 , SCN9A, SH3TC2 , SLC12A6 , SLC52A2, SPTLC1 , SPTLC2 , TFG , TRPV4 , TTR, WNK1, YARS

Disorders:
Brown-Vialetto-Van Laere Syndrome
CMT with Focal Segmental Glomerulosclerosis
Charcot Marie Tooth (CMT)
Congenital Insensitivity to Pain (CIP)
Congenital Insensitivity to Pain with Anhidrosis
Distal Motor Neuropathy
Fabry Disease
Familial Dysautonomia
Familial Transthyretin Amyloidosis
HSAN with Spastic Paraplegia
Hereditary Sensory and Autonomic Neuropathy (HSAN)
Hereditary Sensory and Autonomic Neuropathy I (HSAN I)
Hereditary Sensory and Autonomic Neuropathy II (HSAN II)
Hereditary Sensory and Autonomic Neuropathy III (HSAN III)
Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV)
Hereditary Sensory and Autonomic Neuropathy V (HSAN V)
Inherited Erythromelalgia (IEM)
Menkes Disease
Occipital Horn Disease
Paroxysmal Extreme Pain Disorder (PEPD)
Riley Day Syndrome
Rosenberg-Chutorian Syndrome
Small Fiber Neuropathy (SFN)
Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)

Source: GeneDx

Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease

Targeted genes: AARS, ABHD12, AIFM1, ARHGEF10, ATL1, ATL3, BSCL2, C10orf2, C12orf65, COX6A1, CTDP1, DCAF8, DHTKD1, DNM2, DNMT1, DST, DYNC1H1, EGR2, FAM134B, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HINT1, HK1, HOXD10, HSPB1, HSPB8, IGHMBP2, IKBKAP, INF2, KARS, KIF1A, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, PDK3, PHYH, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SCN11A, SCN9A, SEPT9, SH3TC2, SLC12A6, SOX10, SPTLC1, SPTLC2, TFG, TRIM2, TRPV4, TTR, TYMP, WNK1, YARS

Source: CGC Genetics

Hereditary spastic paraplegia

Targeted genes: AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ATL1, B4GALNT1, BSCL2, C12orf65, C19orf12, CYP2U1, CYP7B1, DDHD1, DDHD2, ENTPD1, ERLIN2, FA2H, GBA2, GJC2, HSPD1, KIAA0196, KIF1A, KIF5A, L1CAM, NIPA1, NT5C2, PLP1, PNPLA6, REEP1, RTN2, SLC33A1, SPAST, SPG11, SPG20, SPG21, SPG7, TECPR2, TFG, VPS37A, ZFYVE26, ZFYVE27

Source: CGC Genetics

Hereditary spastic paraplegia, AD

Targeted genes: ATL1, BSCL2, HSPD1, KIAA0196, KIF5A, NIPA1, REEP1, SLC33A1, SPAST, ZFYVE27

Source: CGC Genetics

Hereditary Spastic Paraplegia (HSP)

Multi Gene Panel (40 Genes)
Targeted genes: AAAS ATL1 BICD2 BSCL2 C12orf65 C19orf12 CLCN2 DARS2 FA2H FAM134B GAN GBE1 GRID2 HSPD1 KIAA0196 KIF1A KIF1C KIF5A L1CAM LYST MARS2 NIPA1 OPA3 PANK2 PLA2G6 PLP1 PNPLA6 REEP1 RTN2 SACS SLC16A2 SLC33A1 SPAST SPG11 SPG7 TTR UBQLN2 VAMP1 WWOX ZFYVE27
Source: Medical Genetics Center

Holoprosencephaly

Targeted genes: CDON, FGF8, GLI2, GLI3, PTCH1, SHH, SIX3,TGIF1, ZIC2

Source: CGC Genetics

Holoprosencephaly

Multi Gene Panel (8 Genes)
Targeted genes: CDON DISP1 FGF8 FOXH1 GLI2 NODAL PTCH1 TDGF1
Source: Medical Genetics Center

Holoprosencephaly NGS Panel

Targeted Genes: CDON, GLI2, PTCH1, SHH, SIX3, TGIF1, ZIC2
Source: Fulgent Diagnostics

Holoprosencephaly panel

Targeted genes: CDON, FGF8, GLI2, GLI3, PTCH1, SHH, SIX3, TGIF1, ZIC2

Source: Centogene

Holoprosencephaly Panel & Del/Dup

Targeted genes: SHH, SIX3, TGIF, ZIC2

Source: GeneDx

HOLOPROSENCEPHALY SEQUENCING PANEL

Targeted Genes
CDON FGF8 FGFR1 GLI2 PTCH1 SHH SIX3 TGIF1 ZIC2

Source: UCGS

Hyperekplexia

Multi Gene Panel (5 Genes)
Targeted genes: ARHGEF9 GLRA1 GLRB GPHN SLC6A5
Source: Medical Genetics Center

Hyperekplexia (NGS panel)

Targeted genes: ARHGEF9, GLRA1, GLRB, GPHN, SLC6A5, FKTN, ASNS

Source: CGC Genetics

Hyperekplexia panel

Targeted genes: ARHGEF9, GLRA1, GLRB, GPHN, SLC6A5

Source: Centogene

Invitae Charcot-Marie-Tooth Disease Comprehensive Panel

This 32-gene panel covers the most common genes associated with CMT types 1, 2, 4, X, and dominant intermediate. Across all types of CMT, four genes account for the majority of cases (50%-75%): PMP22, MPZ, GJB1, and MFN2. Other genes that have been identified as rare causes of CMT are also included in this test and contribute to a higher detection rate, though the exact contribution of these additional genes is not known.
Source: Invitae

Invitae Dystonia Comprehensive Panel

The Invitae Dystonia Comprehensive Panel analyzes up to 18 genes associated with the dystonias, a group of movement disorders characterized by sustained muscle contractions that lead to abnormal postures and repetitive movements. These genes were curated based on current available evidence to provide a comprehensive test for the genetic causes of monogenic dystonias, which comprises both isolated and combined dystonias.
Source: Invitae

Invitae Hereditary Spastic Paraplegia Comprehensive Panel

The Invitae Hereditary Spastic Paraplegia Comprehensive Panel analyzes up to 43 genes associated with hereditary spastic paraplegia (HSP). These genes include the most common causes of autosomal dominant, autosomal recessive, and X-linked HSP.
Source: Invitae

Leukodystrophy and peroxisome biogenesis disorders panel

Targeted genes: ABCD1, AIMP1, ARSA, ASPA, BEST1, CSF1R, CYP27A1, DARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FA2H, FAM126A, GALC, GFAP, GJC2, HEPACAM, HSPD1, MLC1, NDUFV1, NOTCH3, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PLP1, POLR3A, POLR3B, PSAP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SDHA, SLC16A2, SOX10, SUMF1, TREM2, TREX1, HSD17B4, LMNB1, PEX11B, PHYH, SCP2, SDHAF1, TYROBP

Source: Centogene

Leukoencephalopathy NGS Panel

Targeted Genes: ABAT, ACOX1, ALDH3A2, ARSA, ASPA, CSF1R, DARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FAM126A, GFAP, GJC2, HEPACAM, HSPD1, HTRA1, LMNB1, MLC1, NOTCH3, PLP1, PSAP, PTEN, SCP2, SLC25A12
Source: Fulgent Diagnostics

Leukoencephalopathy with vanishing white matter (NGS panel)

Targeted genes: EIF2B5, EIF2B1, EIF2B2, EIF2B3, EIF2B4

Source: CGC Genetics

Lissencephaly

Multi Gene Panel (7 Genes)
Targeted genes: DCX KIF2A PAFAH1B1 RELN TUBA1A TUBB2B TUBG1
Source: Medical Genetics Center

Lissencephaly (NGS panel)

Targeted genes: ARX, DCX, NDE1, PAFAH1B1, POMT1, POMT2, RELN, TUBA1A, YWHAE, CDK5, LAMB1, KATNB1

Source: CGC Genetics

Lissencephaly NGS Panel

Targeted Genes: ACTB, ACTG1, ARX, DCX, FKRP, FKTN, LARGE, PAFAH1B1, POMGNT1, POMT1, POMT2, RELN, TUBA1A, VLDLR
Source: Fulgent Diagnostics

Lissencephaly panel

Targeted genes: ARX, DCX, NDE1, PAFAH1B1, POMT1, POMT2, RELN, TUBA1A, YWHAE

Source: Centogene

Lissencephaly Panel

Targeted genes: ACTB, ACTG1, ARX, ATP6V0A2, B3GALNT2, B3GNT1, DCX, FKRP, FKTN, GMPPB, ISPD, LAMB1, LARGE, NDE1, PAFAH1B1, POMGNT1, POMGNT2, POMT1, POMT2, RELN, TMEM5, TUBA1A, VLDLR, WDR62

Disorders:
Alpha-Dystroglycanopathies
Lisencephaly

Source: GeneDx

Malformations of Cortical Development

Multi Gene Panel (2 Genes)
Targeted genes:
EFHC1 FGFR3
Source: Medical Genetics Center

Macrocephaly

Multi Gene Panel (42 Genes)
Targeted genes: ABCC6 AKT1 AKT3 ASPA BRWD3 CCND2 CDKN1C CHD8 CUL4B DIS3L2 DNMT3A EIF2B5 EZH2 GFAP GLI3 GNAQ GPC3 GPSM2 GRIA3 HEPACAM HUWE1 KIAA0196 KIF7 KPTN L1CAM MED12 MLC1 NFIX NSD1 OFD1 PIK3CA PIK3R2 PTCH1 PTEN RAB39B RNF135 SETD2 SYN1 TBC1D7 TSC1 TSC2 UPF3B
Source: Medical Genetics Center

Macrocephaly (NGS panel)

Targeted genes: AKT3, ASPA, DHCR24, EZH2, GFAP, GPC3, HEPACAM, MED12, MLC1, NFIX, NSD1, PIGA, PIGN, PIK3CA, PIK3R2, PTEN

Source: CGC Genetics

MACROCEPHALY SEQUENCING PANEL

Targeted Genes
CUL4B EZH2 GLI3 GPC3 HEPACAM MED12 NFIA NFIX NSD1 OFD1 PTEN RAB39B RIN2 RNF135 UPF3B

Disorders
Greig cephalopolysyndactyly syndrome
Macrocephaly
Marshall-Smith syndrome
Opitz-Kaveggia syndrome
Simpson-Golabi-Behmel syndrome
Sotos syndrome
Weaver syndrome

Source: UCGS

Megalencephaly

Multi Gene Panel (8 Genes)
Targeted genes: AKT1 AKT3 CCND2 PIK3CA PIK3R2 PTEN TSC1 TSC2
Source: Medical Genetics Center

Microcephaly and pontocerebellar hypoplasia

Targeted genes: AMPD2, AP4M1, ASPM, ATR, BUB1B, CASC5, CASK, CDK5RAP2, CENPJ, CEP135, CEP152, CEP63, CHMP1A, CLP1, DNM1L, DYNC1H1, DYRK1A, EFTUD2, EXOSC3, IER3IP1, KIF11, KIF2A, KIF5C, LIG4, MBD5, MCPH1, MED17, NDE1, NHEJ1, NIN, OPHN1, PAFAH1B1, PCNT, PNKP, POMT1, PQBP1, RARS2, RBBP8, SEPSECS, SLC25A19, STAMBP, STIL, TSEN2, TSEN34, TSEN54, TUBB2B, TUBG1, TUBGCP6, VPS53, VRK1, WDR62, ZNF335

Source: CGC Genetics

Microcephaly NGS Panel

Targeted Genes: (35) AKT3, BUB1B, CASK, CDK5RAP2, CENPJ, CEP135, CEP152, CEP63, DNM1L, EFTUD2, IER3IP1, KIF11, LIG4, MCPH1, MED17, MRE11A, MSMO1, NDE1, NHEJ1, NR2E1, PAFAH1B1, PCNT, PNKP, POMT1, PQBP1, RARS2, SLC25A19, STIL, TSEN2, TSEN34, TSEN54, TUBB2B, TUBGCP6, VRK1, WDR62
Source: Fulgent Diagnostics

Microcephaly panel

Targeted genes: AKT3, AP4M1, ASPM, CASK, CDK5RAP2, CENPJ, CEP135, CEP152, CEP63, DNM1L, EFTUD2, IER3IP1, KIF11, MCPH1, MRE11A, MSMO1, NDE1, NHEJ1, NR2E1, PAFAH1B1, PCNT, PNKP, POMT1, SLC25A19, STIL, TUBB2B, TUBGCP6, WDR62

Source: Centogene

Microcephaly Panel

Targeted genes: ASPM, ATR, ATRX, CASK, CDK5RAP2, CDKL5, CENPJ, CEP152, DHCR7, FOXG1, IER3IP1, MCPH1, MECP2, MYCN, NIPBL, PCNT, RAB18, RAB3GAP1, RAB3GAP2, RBBP8, SLC25A19, SLC9A6, STIL, TCF4, TUBB3, UBE3A, WDR62, ZEB2

Source: GeneDx

MICROCEPHALY SEQUENCING PANEL

Targeted Genes
ARFGEF2 ASPM ASXL3 ATR ATRX CASC5 CASK CDC6 CDK5RAP2 CDK6 CDKL5 CDT1 CENPJ CEP135 CEP152 CEP63 DYRK1A FOXG1 IER3IP1 KIF11 LIG4 MCPH1 MECP2 MED17 NBN NDE1 NHEJ1 NIN ORC1 ORC4 ORC6 PCNT PHC1 PNKP RAB18 RAB3GAP1 RAB3GAP2 RAD50 RBBP8 SLC25A19 SLC2A1 SLC9A6 STAMBP STIL TBC1D20 TCF4 TRAPPC9 TRMT10A TSEN2 TSEN34 TSEN54 TUBGCP6 UBE3A WDR62 ZEB2 ZNF335

Disorders
Microcephaly, Autosomal recessive primary microcephaly

Source: UCGS

Myotonia

Multi Gene Panel (8 Genes)
Targeted genes: ACTA1 CAV3 CLCN1 GAA HINT1 HSPG2 PTRF SCN4A
Source: Medical Genetics Center

Neurodegeneration with Brain Iron Accumulation (NBIA)

Multi Gene Panel (12 Genes)
Targeted genes: ATL1 ATP13A2 C19orf12 CP DCAF17 FA2H FTL IBA57 PANK2 PLA2G6 SPAST WDR45
Source: Medical Genetics Center

Neurodegeneration with Brain Iron Accumulation (NBIA) Panel

Neurodegeneration with Brain Iron Accumulation (NBIA) is a group of neurodegenerative diseases caused by iron accumulation in the basal ganglia leading to progressive dystonia, parkinsonism, neurocognitive anomalies, and ophthalmologic disorders.
Next generation sequencing using Ion Torrent technology of the 15 NBIA-associated genes.
Source: Knight Diagnostic Laboratories

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION (NBIA) SEQUENCING PANEL

Targeted Genes
ATP13A2 C19orf12 CP DCAF17 FA2H FTL PANK2 PLA2G6 WDR45

Souce: UCGS

Neuronal ceroid lipofuscinosis

Targeted genes: CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, MFSD8, PPT1, TPP1

Source: CGC Genetics

Neuronal Ceroid Lipofuscinoses NGS Panel

Targeted Genes: CLN3, CLN5, CLN6, CLN8, CTSD, DNAJC5, KCTD7, MFSD8, PPT1, TPP1
Source: Fulgent Diagnostics

NEURONAL CEROID-LIPOFUSCINOSES PANEL

Targeted Genes
CLN3 CLN5 CLN6 CLN8 CTSD MFSD8 PPT1 TPP1

Source: UCGS

Neuronal migration disorders panel

Targeted genes: ACTB, ACTG1, ARFGEF2, ARX, COL18A1, COL4A1, CPT2, DCX, EMX2, EOMES, FGFR3, FH, FKRP, FKTN, FLNA, GPR56, IER3IP1, ISPD, LAMA2, LAMC3, LARGE, MED12, MEF2C, OCLN, PAFAH1B1, PAX6, PEX7, POMGNT1, POMT1, POMT2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RELN, SNAP29, SRPX2, TUBA1A, TUBA8, TUBB2B, TUBB3, VDAC1, WDR62

Source: Centogene

Neuronal Migration with Microcephaly

Multi Gene Panel (6 Genes)
Targeted genes: ASPM CDK5RAP2 CENPJ CEP152 STIL WDR62
Source: Medical Genetics Center

Neuropathy

Multi Gene Panel (122 Genes)
Targeted genes: AAAS AARS ABCA1 ABHD12 AIFM1 ALS2 AMACR ANG ARHGEF10 ATL1 ATL3 ATP7A BICD2 BSCL2 C12orf65 CHCHD10 CLP1 COX10 CTDP1 CYP27A1 DCAF8 DCTN1 DNAJB2 DNM2 DNMT1 DYNC1H1 EGR2 FAM126A FAM134B FBLN5 FGD4 FIG4 FUS FXN GAA GAN GARS GBE1 GDAP1 GJB1 HADHA HADHB HARS HEXA HINT1 HK1 HSPB1 HSPB3 HSPB8 IFRD1 IGHMBP2 IKBKAP INF2 KARS KIF1A KIF5A KLHL13 LARS LAS1L LITAF LMNA LRSAM1 MARS MATR3 MED25 MFN2 MICAL1 MPZ MTMR2 MYH14 NDRG1 NDUFAF5 NEFL NGF NIPA1 NTRK1 OPTN PDHA1 PDK3 PEX12 PLEKHG5 PLP1 PMP22 POLG PRPS1 PRX RAB7A REEP1 SACS SBF2 SCN10A SCN11A SCN9A SEPT9 SETX SH3BP4 SH3TC2 SLC12A6 SLC52A2 SLC52A3 SLC5A7 SMAD3 SOD1 SPAST SPG11 SPTLC1 SPTLC2 SQSTM1 SURF1 TARDBP TDP1 TFG TNNT2 TRPV4 TTR TYMP UBQLN2 VAPB VCP VRK1 WNK1 YARS
Source: Medical Genetics Center

Non-dystrophic myotonias (NGS)

Targeted genes: ATP2A1, CACNA1A, CACNA1S, CAV3, CLCN1, HINT1, HSPG2, KCNA1, KCNE3, KCNJ18, SCN4A

Source: CGC Genetics

Pantothenate kinase-associated neurodegeneration panel

Targeted genes: ATP13A2, C19orf12, CP, DCAF17, FA2H, FTL, PANK2, PLA2G6, WDR45

Source: Centogene

Parkinson disease

Targeted genes: ATP13A2, DNAJC6, FBXO7, LRRK2, PARK2, PARK7, PINK1, PLA2G6, SNCA, VPS35

Source: CGC Genetics

Parkinson disease (32)

Targeted genes: ADH1C, ATP13A2, ATP1A3, ATP6AP2, CSF1R, DCTN1, DNAJC6, EIF4G1, FBXO7, FTL, GBA, GCH1, GIGYF2, HTRA2, LRRK2, MAPT, PARK2, PARK7, PDXK, PINK1, PLA2G6, POLG, PRKRA, SLC6A3, SNCA, SNCAIP, SNCB, SYNJ1, TAF1, TH, UCHL1, VPS35

Source: CGC Genetics

Parkinsons disease panel

Targeted genes: SNCA, LRRK2, VPS35, PARK2, PINK1, PARK7, ATP13A2, PLA2G6, FBXO7, DNAJC6

Source: Centogene

Periodic Palsy

Multi Gene Panel (6 Genes)
Targeted genes: CACNA1S KCNE3 KCNJ12 KCNJ2 RYR1 SCN4A
Source: Medical Genetics Center

Polymicrogyria

Multi Gene Panel (17 Genes)
Targeted genes: CHD7 EOMES FH GPR56 GPSM2 KIAA1279 KIF5C NDE1 NSDHL OCLN SRPX2 TUBA1A TUBA8 TUBB TUBB2B TUBB3 WDR62
Source: Medical Genetics Center

POLYMICROGYRIA SEQUENCING PANEL

Targeted Genes
GPR56 GPSM2 KIAA1279 NDE1 OCLN RAB18 RAB3GAP1 RAB3GAP2 RTTN TBC1D20 TUBA1A TUBA8 TUBB2B TUBB3 WDR62

Disorders
Polymicrogyria, Warburg Micro syndrome

Source: UCGS

Pontocerebellar Hypoplasia

Multi Gene Panel (8 Genes)
Targeted genes: EXOSC3 RARS2 SEPSECS TSEN2 TSEN34 TSEN54 VLDLR VRK1
Source: Medical Genetics Center

Pontocerebellar hypoplasia panel

Targeted genes: CASK, TSEN2, TSEN34, TSEN54, OPHN1, RARS2, VRK1, EXOSC3, CHMP1A

Source: Centogene

Pontocerebellar Hypoplasia Panel

Targeted genes: CASK, CHMP1A, CLP1, EXOSC3, OPHN1, RARS2, RELN, SEPSECS, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB2B, TUBB3, VLDLR, VPS53, VRK1

Source: GeneDx

SCA panel

Targeted genes: ATXN1, ATXN2, ATXN3, ATXN7, ATXN8, ATXN10, BEAN1, ATN1, CACNA1A, NOP56, PPP2R2B, TBP, AFG3L2, DNMT1, FGF14, IFRD1, ITPR1, KCNC3, KCND3, PDYN, PRKCG, SPTBN2, TGM6, TTBK2, VAMP1

Source: Centogene

Seckel syndrome panel

Targeted genes: ATR, RBBP8, CENPJ, CEP152, CEP63, ATRIP

Source: Centogene

SECKEL SYNDROME SEQUENCING PANEL

Targeted Genes
ATR CENPJ CEP152 CEP63 NIN PCNT RBBP8

Disorders
Microcephalic Osteodysplastic Primordial Dwarfism type II, Seckel Syndrome, Primordial dwarfism

Source: UCGS

Spastic paraplegia panel, autosomal dominant

Targeted genes: ATL1, BSCL2, HSPD1, KIAA0196, KIF5A, NIPA1, REEP1, RTN2, SLC33A1, SPAST, ZFYVE27

Source: Centogene

Spastic paraplegia panel, autosomal recessive

Targeted genes: AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ARSI, B4GALNT1, C12orf65, C19orf12, CCT5, CYP2U1, CYP7B1, DDHD1, DDHD2, ENTPD1, ERLIN1, ERLIN2, FA2H, FLRT1, GBA2, GJC2, KIF1A, NT5C2, PLP1, PNPLA6, REEP2, SPG11, SPG20, SPG21, SPG7, TECPR2, TFG, USP8, VPS37A, WDR48, ZFR, ZFYVE26

Source: Centogene

Spinal Muscular Atrophy, Proximal Motor Neuropathy

Multi Gene Panel (14 Genes)
Targeted genes: BICD2 CLP1 DYNC1H1 HEXA IGHMBP2 LAS1L LMNA MFN2 SETX SLC52A2 SLC52A3 TFG TRPV4 VAPB
Source: Medical Genetics Center

Syndromic Macrocephaly/Overgrowth Panel

Targeted genes: CUL4B, EZH2, GLI3, GPC3, MED12, NFIX, NSD1, PHF6, PTCH1, PTEN, UPF3B

Source: GeneDx

TruSeq Targeted RNA Expression

The TruSeq Targeted RNA Expression Neurodegeneration Panel is a predesigned gene expression profiling solution for studying neurodegenerative and neurotoxic pathways such as those implicated in Alzheimer’s Disease. The panel includes assays targeting 77 genes involved in these pathways. All TruSeq Targeted RNA fixed panels are experimentally validated to ensure strong correlation with RNA sequencing.
Source: Illumina

Website

Uncomplicated Hereditary Spastic Paraplegia Panel

Targeted Genes: ATL1, CYP7B1, KIAA0196, KIF1A , KIF5A, NIPA1, REEP1 (C2ORF23), RTN2, SPAST, SPG11, SPG7

Disorders:
Hereditary Spastic Paraplegia
Uncomplicated Hereditary Spastic Paraplegias

Source: GeneDx

WARBURG MICRO SYNDROME SEQUENCING PANEL

Targeted Genes
RAB18 RAB3GAP1 RAB3GAP2 TBC1D20

Source: UCGS


Other Mental Health Disorders - NGS Panels

Angelman Syndrome and Differential Diagnoses

Multi Gene Panel (20 Genes)
Targeted genes: ARX ATRX CDKL5 CNTNAP2 DYRK1A EHMT1 FOXG1 HERC2 KDM5C KIAA2022 MBD5 MECP2 MEF2C NRXN1 PCDH19 SLC9A6 SYNGAP1 TCF4 UBE3A ZEB2
Source: Medical Genetics Center

Coffin-Siris and Nicolaides-Baraitser Syndrome (CSS, NCBRS)

Multi Gene Panel (7 Genes)
Targeted genes: ARID1A ARID1B PHF6 SMARCA2 SMARCA4 SMARCB1 SMARCE1
Source: Medical Genetics Center

Coffin-Siris syndrome (NGS panel)

Targeted genes: ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1

Source: CGC Genetics

Coffin-Siris syndrome panel

Targeted genes: ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1

Source: Centogene

COFFIN-SIRIS SYNDROME SEQUENCING PANEL

Targeted Genes
ADNP ANKRD11 ARID1A ARID1B PHF6 SMARCA2 SMARCA4 SMARCB1 SMARCE1 SOX11 TBC1D24

Source: UCGS

Cohesinopathies (Cornelia de Lange Syndrome)

Multi Gene Panel (5 Genes)
Targeted genes: HDAC8 NIPBL RAD21 SMC1A SMC3
Source: Medical Genetics Center

Congenital Disorders of Glycosylation (CDG)

Multi Gene Panel (38 Genes)
Targeted genes: ALG1 ALG11 ALG12 ALG13 ALG3 ALG6 ALG8 ALG9 B4GALT1 COG1 COG4 COG5 COG6 COG7 COG8 DDOST DHDDS DOLK DPM1 DPM3 GMPPA MAN1B1 MGAT2 MOGS MPDU1 MPI PGM1 PMM2 RFT1 SLC35A1 SLC35A2 SLC35C1 SRD5A3 SSR4 STT3A STT3B TMEM165 TUSC3
Source: Medical Genetics Center

Congenital Disorders of Glycosylation NGS Panel

Targeted Genes: ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6V0A2, B3GLCT, B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8, DDOST, DHDDS, DOLK, DPAGT1, DPM1, DPM3, GNE, MAGT1, MGAT2, MOGS, MPDU1, MPI, PMM2, RFT1, RPN2, SEC23B, SLC35A1, SLC35C1, SRD5A3, TUSC3
Source: Fulgent Diagnostics

Glycosylation disorder panel

Targeted genes: PMM2, MPI, ALG6, ALG3, ALG12, ALG8, DPAGT1, ALG1, RFT1, ALG11, SRD5A3, TUSC3, MGAT2, TMEM165

Source: Centogene

Mental Health DNA InsightTM

Mental Health DNA InsightTM analyzes a patient’s DNA to identify genetic variants that affect the metabolism and efficacy of psychiatric medications. Genetic research suggests that categorizing individuals based on genotypes will make the pharmacologic treatment of psychiatric illnesses more predictable and effective. Mental Health DNA Insight can help a physician predict a patient’s response to more than 30 common antidepressants, mood stabilizers and antipsychotic medications. The report provides outcomes in a clear color-coded chart.
Source: Pathway

Website

Mental retardation, X-linked panel

Targeted genes: ABCD1, ACSL4, AFF2, AGTR2, AP1S2, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCOR, BRWD3, CASK, CDKL5, CUL4B, DCX, DKC1, DLG3, ELK1, FANCB, FGD1, FLNA, FMR1, FTSJ1, GDI1, GK, GPC3, GRIA3, HCCS, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IL1RAPL1, KIAA2022, KDM5C, KLF8, L1CAM, LAMP2, MAGT1, MAOA, MBTPS2, MECP2, MED12, MID1, MTM1, NDP, NDUFA1, NHS, NLGN3, NLGN4X, NSDHL, NXF5, OCRL, OFD1, OPHN1, OTC, PAK3, PCDH19, PDHA1, PGK1, PHF6, PHF8, PLP1, PORCN, PQBP1, PRPS1, RAB39B, RPL10, RPS6KA3, SHROOM4, SLC16A2, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SRPX2, SYN1, SYP, TIMM8A, TSPAN7, UBE2A, UPF3B, ZCCHC12, ZDHHC9, ZDHHC15, ZNF41, ZNF81, ZNF674, ZNF711

Source: Centogene

Rasopathies

Multi Gene Panel (15 Genes)
Targeted genes: BRAF CBL HRAS KRAS MAP2K1 MAP2K2 NF1 NRAS PTPN11 RAF1 RASA2 RRAS SHOC2 SOS1 SPRED1
Source: Medical Genetics Center

Rett/Angelman Syndrome Panel

Targeted genes: CDKL5, CNTNAP2, FOXG1, MBD5, MECP2, MEF2C, NRXN1, SLC9A6, TCF4, UBE3A, WDR45, ZEB2

Disorders:
Angelman syndrome (AS)
Angelman-like syndrome, X-linked syndromic mental retardation (Christianson type)
Atypical Rett Syndrome
Mowat-Wilson Syndrome
Pitt Hopkins Syndrome
Rett syndrome

Source: GeneDx

RETT/ANGELMAN SYNDROME SEQUENCING PANEL

Targeted Genes
ARX ATRX CDKL5 CNTNAP2 DYRK1A EHMT1 FOLR1 FOXG1 MBD5 MECP2 MEF2C NRXN1 OPHN1 PCDH19 PNKP SLC2A1 SLC9A6 TCF4 TRAPPC9 UBE3A ZEB2

Disorders
Angelman syndrome
Atypical Rett syndrome
Rett syndrome

Source: UCGS

Syndromic Disorders

Multi Gene Panel (176 Genes)
Targeted genes: ABCC6 ACSL4 AFF2 AGTR2 AIFM1 AKT1 AKT3 AP1S2 ARHGEF6 ARHGEF9 ARID1A ARID1B ARX ASPA ATP6AP2 ATP7A ATRX BCOR BRAF BRWD3 CASK CBL CCND2 CDKL5 CDKN1C CHD8 CLCN4 CNTNAP2 CUL4B DCX DIS3L2 DKC1 DLG3 DMD DNMT3A DYRK1A EHMT1 EIF2B5 EIF2S3 EMD EZH2 FANCB FGD1 FHL1 FLNA FMR1 FOXG1 FTSJ1 GDI1 GFAP GK GLI3 GNAQ GPC3 GPSM2 GRIA3 HCCS HCFC1 HDAC8 HEPACAM HERC2 HPRT1 HRAS HSD17B10 HUWE1 IDS IGBP1 IKBKG IL1RAPL1 IQSEC2 KDM5C KDM6A KIAA0196 KIAA2022 KIF7 KLF8 KPTN KRAS L1CAM LAMP2 LAS1L MAGT1 MAOA MAP2K1 MAP2K2 MBD5 MBTPS2 MECP2 MED12 MEF2C MID1 MLC1 MTM1 NAA10 NDP NDUFA1 NF1 NFIX NHS NIPBL NLGN3 NLGN4X NRAS NRXN1 NSD1 NSDHL NXF5 OCRL OFD1 OPHN1 OTC PAK3 PCDH19 PDHA1 PGK1 PHF6 PHF8 PIK3CA PIK3R2 PLP1 PORCN PQBP1 PRPS1 PTCH1 PTCHD1 PTEN PTPN11 RAB39B RAB40AL RAD21 RAF1 RASA2 RBM10 RNF135 RPL10 RPS6KA3 RRAS SETD2 SHOC2 SHROOM4 SLC16A2 SLC6A8 SLC9A6 SMARCA2 SMARCA4 SMARCB1 SMARCE1 SMC1A SMC3 SMS SOS1 SOX3 SPRED1 SRPX2 SYN1 SYNGAP1 SYP TBC1D7 TCF4 THOC2 TIMM8A TSC1 TSC2 TSPAN7 UBE2A UBE3A UPF3B WDR45 ZDHHC15 ZDHHC9 ZEB2 ZMYM3 ZNF41 ZNF674 ZNF711 ZNF81
Source: Medical Genetics Center

X-Linked Mental Retardation

Multi Gene Panel (109 Genes)
Targeted genes: ACSL4 AFF2 AGTR2 AIFM1 AP1S2 ARHGEF6 ARHGEF9 ARX ATP6AP2 ATP7A ATRX BCOR BRWD3 CASK CDKL5 CLCN4 CUL4B DCX DKC1 DLG3 DMD EIF2S3 EMD FANCB FGD1 FHL1 FLNA FMR1 FTSJ1 GDI1 GK GPC3 GRIA3 HCCS HCFC1 HDAC8 HPRT1 HSD17B10 HUWE1 IDS IGBP1 IKBKG IL1RAPL1 IQSEC2 KDM5C KDM6A KIAA2022 KLF8 L1CAM LAMP2 LAS1L MAGT1 MAOA MBTPS2 MECP2 MED12 MID1 MTM1 NAA10 NDP NDUFA1 NHS NLGN3 NLGN4X NSDHL NXF5 OCRL OFD1 OPHN1 OTC PAK3 PCDH19 PDHA1 PGK1 PHF6 PHF8 PLP1 PORCN PQBP1 PRPS1 PTCHD1 RAB39B RAB40AL RBM10 RPL10 RPS6KA3 SHROOM4 SLC16A2 SLC6A8 SLC9A6 SMC1A SMS SOX3 SRPX2 SYN1 SYP THOC2 TIMM8A TSPAN7 UBE2A UPF3B WDR45 ZDHHC15 ZDHHC9 ZMYM3 ZNF41 ZNF674 ZNF711 ZNF81
Source: Medical Genetics Center


Scholz S and Bras J (2015) Genetics Underlying Atypical Parkinsonism and Related Neurodegenerative Disorders | PubMed |


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