Nervous system
About this category
The nervous system is divided into a central part and a peripheral part. The term central nervous system (CNS) refers to the spinal cord and the brain. This part of the nervous system is responsible for maintaining key vital functions of the body, such as breathing, heart function, and regulation of reflexes. The peripheral nervous system is responsible for the transmission of nerve impulses between the muscles, glands and the CNS. Genetic damage to the nervous system can have a very diverse cause in damaged genes and a very varied course. Diseases related to the malfunction of the nervous system are, for example:
- ataxia with ataxia with ataxia and problems with maintaining balance,
- leukodystrophies and leukoencephalopathies, causing destruction of the white matter of the brain and the myelin sheaths,
- spinal muscle atrophy associated with the death of neurons,
- epilepsy and encephalopathies.
Diseases related to the malfunction of the nervous system may also be caused by damage to the genes, causing the weakening of the work of muscle fibers, such as myopathies.
All genetic tests are performed using the next-generation sequencing method, using Illumina sequencers. Our tests are subject to internal and external control. The laboratory is subject to continuous external quality control.
Panels in this category
44 panels-
Alzheimer's disease
Frequently chosen 7 genesAPOE; APP; MPO; NOS3; PLAU; PSEN1; PSEN2
2194 PLNDetails -
Amyotrophic lateral sclerosis
50 genesALS2; ANG; ANXA11; ATL1; ATXN2; BSCL2; C9orf72; CHCHD10; CHMP2B; CSF1R; DCTN1; ERBB4; FIG4; FUS; GBE1; GRN; HEXA; HNRNPA1; HSPD1; ITM2B; KIAA0196; KIF5A; MAPT; MATR3; NEFH; NEK1; OPTN; PFN1; PRF1; PRPH; PSEN1; PSEN2; REEP1; SETX; SIGMAR1; SLC52A2; SLC52A3; SOD1; SPAST; SPG11; SQSTM1; TARDBP; TBK1; TIA1; TREM2; TRPM7; TUBA4A; UBQLN2; VAPB; VCP
2194 PLNDetails -
Analysis of EIF2B1, EIF2B2, EIF2B3, EIF2B4
4 genesEIF2B1; EIF2B2; EIF2B3; EIF2B4
1894 PLNDetails -
Ataxia
260 genesABCB7; ABHD12; ABHD5; ACADVL; ACO2; ACP2; ADCK3; AFF1; AFG3L2; AGTPBP1; AHI1; ALDH5A1; AMACR; ANO10; APTX; ARL13B; ARL6; ARSA; ATCAY; ATM; ATN1; ATP13A2; ATP1A3; ATP2B3; ATP8A2; ATXN1; ATXN10; ATXN2; ATXN3; ATXN7; B9D1; BBS1; BBS10; BBS12; BBS2; BBS4; BBS5; BBS7; BBS9; BEAN1; BRAT1; BSCL2; BTD; BTK; C10orf2; C12orf4; C12orf65; C19orf12; C5orf42; CA8; CACNA1A; CACNA1G; CACNB4; CAMTA1; CAPN1; CASK; CC2D2A; CCDC88C; CEP104; CEP290; CEP41; CHMP1A; CLCN2; CLN5; CLN6; CLPP; COA7; COASY; COQ2; COQ9; COX20; CP; CSPP1; CSTB; CTSD; CWF19L1; CYP27A1; CYP2U1; DARS2; DLAT; DNAJC19; DNAJC5; DNMT1; DOCK3; EBF3; EEF2; EIF2B1; EIF2B2; EIF2B3; EIF2B4; EIF2B5; ELOVL4; ELOVL5; EXOSC3; FA2H; FBXL4; FGF14; FLVCR1; FMR1; FTL; FXN; GALC; GBA; GBA2; GFAP; GJB1; GJC2; GOSR2; GPI; GRID2; GRM1; GRN; GSS; HARS2; HEPACAM; HEXB; HIBCH; HPD; INPP5E; IRF2BPL; ITM2B; ITPR1; KCNA1; KCNC3; KCND3; KCNJ10; KIAA0226; KIF1A; KIF1C; KIF5A; KIF7; LAMA1; LARS2; LMNB1; LRPPRC; MARS2; MFSD8; MIPEP; MKKS; MKS1; MLC1; MME; MRE11A; MSTO1; MTFMT; MTPAP; MTTP; NDUFAF6; NDUFS1; NDUFS2; NDUFS4; NDUFS7; NDUFS8; NDUFV1; NEDD4; NKX6-2; NOL3; NOP56; NPHP1; NUBPL; OFD1; OPA1; OPA3; OPHN1; PANK2; PAX6; PDHX; PDSS1; PDSS2; PDYN; PEX10; PEX2; PEX7; PHYH; PLA2G6; PLP1; PMPCA; PNKD; PNKP; PNP; PNPLA6; POLG; POLR3A; POLR3B; PPP2R2B; PRICKLE1; PRKCG; PRNP; PRPS1; PRRT2; PUM1; RARS2; RNF170; RNF216; RPGRIP1L; RRM2B; RTN4IP1; SACS; SAMD9L; SCN2A; SCYL1; SERAC1; SETX; SIL1; SLC16A2; SLC17A5; SLC1A3; SLC20A2; SLC25A46; SLC2A1; SLC52A2; SLC52A3; SLC9A1; SLC9A6; SNX14; SPG11; SPG7; SPR; SPTBN2; STUB1; STXBP1; SYNE1; SYT14; TBP; TCTN1; TCTN2; TCTN3; TDP1; TGM6; TMEM138; TMEM216; TMEM231; TMEM237; TMEM240; TMEM67; TOP2B; TPP1; TRIM32; TSEN2; TSEN34; TSEN54; TTBK2; TTC19; TTC8; TTPA; TUBB4A; UBA5; UBTF; UCHL1; VAMP1; VLDLR; VRK1; VWA3B; WDPCP; WDR81; WFS1; WWOX; ZFYVE26; ZNF423; ZNF592
2194 PLNDetails -
Autism spectrum disorders
94 genesADNP; ADSL; ALDH5A1; AMT; ANK2; ANKRD11; ARID1B; ASH1L; ASXL3; BCL11A; BRAF; C12orf4; CACNA1C; CC2D1A; CDKL5; CHD2; CHD8; CNOT3; CNTN4; CNTN6; CNTNAP2; COL4A3BP; CREBBP; CSNK2A1; CTNND2; DHCR7; DSCAM; DYRK1A; EHMT1; EN2; FBXO11; FOXG1; FOXP1; GABRB3; GAMT; GRIN2B; GRIP1; HDAC8; HOXA1; HPRT1; KATNAL2; KDM5B; KMT2E; MAGEL2; MBOAT7; MECP2; MED12; MID1; MYT1L; NBEA; NHS; NIPBL; NLGN1; NLGN3; NLGN4X; NRXN1; NSD1; PCDH19; PDE8B; POGZ; PQBP1; PTCHD1; PTEN; PTPN11; RAD21; RAI1; RELN; RPL10; SCN1A; SCN2A; SETD2; SHANK2; SHANK3; SLC6A1; SLC6A8; SLC9A9; SMC1A; SMC3; SUV420H1; SYNGAP1; TBL1XR1; TBR1; TCF20; TCF4; TMLHE; TRIP12; TSC1; TSC2; UBE3A; VAMP2; VPS13B; WASF1; ZEB2; ZSWIM6
2194 PLNDetails -
Cerebellar ataxia
55 genesADCK3; AFG3L2; ANO10; ATN1; ATP2B3; ATXN1; ATXN10; ATXN2; ATXN3; ATXN7; BEAN1; C10orf2; CACNA1A; CACNA1G; COA7; CWF19L1; DAB1; DNMT1; EEF2; ELOVL4; ELOVL5; FAT2; FGF14; GDAP2; GRID2; GRM1; IFRD1; ITPR1; KCNC3; KCND3; NOP56; PDYN; PLEKHG4; PMPCA; PPP2R2B; PRKCG; PUM1; SCYL1; SETX; SNX14; SPTBN2; STUB1; SYNE1; SYT14; TBP; TDP1; TDP2; TGM6; THG1L; TMEM240; TPP1; TTBK2; VPS13D; VWA3B; WWOX
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Cerebellar hypoplasia - basic panel
6 genesCASK; CHMP1A; EXOSC3; EXOSC8; TSEN2; TSEN54
2194 PLNDetails -
Cerebrovascular accident (stroke)
30 genesACTA2; ACVRL1; CBS; CCM2; CECR1; COL3A1; COL4A1; COL4A2; CST3; ENG; EPHB4; GDF2; GLA; GUCY1A3; HTRA1; KRIT1; NOTCH3; PDCD10; RASA1; RNF213; SLC2A10; SMAD2; SMAD3; SMAD4; TEK; TGFB2; TGFB3; TGFBR1; TGFBR2; TREX1
2194 PLNDetails -
Charcot-Marie-Tooth disease
119 genesAARS; ABHD12; AGTPBP1; AIFM1; AMACR; ARHGEF10; ATAD3A; ATL1; ATL3; ATP1A1; ATP7A; BAG3; BICD2; BSCL2; C12orf65; CCT5; CHCHD10; CNTNAP1; COA7; COX10; COX6A1; CTDP1; DCAF8; DCTN1; DCTN2; DHTKD1; DNAJB2; DNM2; DNMT1; DRP2; DST; DYNC1H1; EGR2; FAM134B; FBLN5; FGD4; FIG4; FXN; GAN; GARS; GDAP1; GJB1; GNB4; GNE; HADHB; HARS; HINT1; HK1; HSPB1; HSPB3; HSPB8; IGHMBP2; IKBKAP; INF2; JPH1; KARS; KIF1A; KIF5A; LDB3; LITAF; LMNA; LRSAM1; MARS; MCM3AP; MED25; MFN2; MME; MORC2; MPV17; MPZ; MTMR2; MYOT; NAGLU; NDRG1; NEFH; NEFL; NGF; NTRK1; PDK3; PLEKHG5; PMP22; PNKP; POLG; PRDM12; PRPS1; PRX; PTRH2; RAB7A; REEP1; SACS; SBF1; SBF2; SCN11A; SCN9A; SCO2; SCYL1; SEPT9; SETX; SGPL1; SH3TC2; SIGMAR1; SLC12A6; SLC25A46; SMAD3; SPG11; SPTBN4; SPTLC1; SPTLC2; SURF1; TFG; TRIM2; TRPV4; TTR; TYMP; VCP; WARS; WNK1; YARS; ZFYVE26
2194 PLNDetails -
Choroba Charcota-Marie-Tootha mały panel
12 genesBSCL2; GDAP1; GJB1; HINT1; HSPB1; LITAF; MFN2; MME; MPZ; PMP22; PRPS1; SH3TC2
2194 PLNDetails -
Coenzyme q10 deficiency
16 genesADCK3; ADCK4; ANO10; APTX; COQ2; COQ4; COQ5; COQ6; COQ7; COQ9; ETFA; ETFB; ETFDH; PDSS1; PDSS2; SLC25A26
2194 PLNDetails -
Collagen-related neuropathies
6 genesCOL12A1; COL4A1; COL4A2; COL6A1; COL6A2; COL6A3
2194 PLNDetails -
Dementia
72 genesA2M; ABCA7; ALS2; ANG; APOE; APP; ARSA; ATL1; ATP7B; ATXN2; BSCL2; BTK; C9orf72; CHCHD10; CHMP2B; CP; CSF1R; CST3; CTSB; DCTN1; ERBB4; FIG4; FTL; FUS; GBA; GRN; HEXA; HFE; HNRNPA1; HSPD1; HTRA1; IFT74; ITM2B; KIAA0196; KIF5A; MAPT; MATR3; MPO; NEFH; NOS3; NOTCH3; NPC1; OPTN; PANK2; PFN1; PLAU; PRNP; PSEN1; PSEN2; REEP1; RNF216; SERPINI1; SETX; SIGMAR1; SLC52A3; SNCA; SNCB; SOD1; SORL1; SPAST; SPG11; SQSTM1; TARDBP; TBK1; TREM2; TRPM7; TUBA4A; TYROBP; UBE3A; UBQLN2; VAPB; VCP
2194 PLNDetails -
Dravet syndrome
6 genesGABRD; GABRG2; SCN1A; SCN2A; SCN9A; STX1B
2194 PLNDetails -
Dystonia
47 genesADAR; ADCY5; ANO3; ATM; ATP1A3; ATP7B; BCAP31; CACNA1A; COASY; COL6A3; COX20; DNAJC12; FA2H; FBXO7; FTL; GCDH; GCH1; GNAL; HPCA; KCNA1; KCNMA1; KCTD17; KIF1C; KMT2B; MECR; PANK2; PARK2; PINK1; PLA2G6; PNKD; PRKRA; PRRT2; SCN8A; SGCE; SLC19A3; SLC2A1; SLC30A10; SLC39A14; SLC6A3; SPR; TAF1; TH; THAP1; TOR1A; TUBB4A; VAC14; VPS13A
2194 PLNDetails -
Emery-Dreifuss muscular dystrophy
8 genesDMD; EMD; FHL1; LMNA; SYNE1; SYNE2; TMEM43; TTN
2194 PLNDetails -
Epilepsy and epileptic encephalopathies
194 genesABCD1; ADAR; ADSL; AFG3L2; AGA; AIMP1; ALDH5A1; ALDH7A1; ALG13; AMACR; AMT; ARG1; ARHGEF9; ARSA; ARX; ASAH1; ASPA; ATP13A2; ATRX; BTD; CACNA1A; CACNA1H; CACNB4; CASK; CASR; CDKL5; CERS1; CHD2; CHRNA2; CHRNA4; CHRNB2; CLCN2; CLN3; CLN5; CLN6; CLN8; CNTNAP2; COL4A1; COX15; CPT2; CSF1R; CSTB; CTSD; CTSF; CUL4B; DARS2; DCX; DEPDC5; DNAJC5; DNM1; DOCK7; DPYD; EARS2; EEF1A2; EFHC1; EIF2B1; EIF2B2; EIF2B3; EIF2B4; EIF2B5; EPM2A; ETFA; ETFB; ETFDH; FAM126A; FH; FLNA; FOLR1; FOXG1; FOXRED1; GABRA1; GABRB3; GABRG2; GALC; GAMT; GCDH; GCH1; GFAP; GJC2; GLDC; GNAO1; GNE; GOSR2; GPHN; GRIA3; GRIN2A; GRIN2B; GRN; HCN1; HEPACAM; HNRNPU; HSD17B10; HSPD1; IQSEC2; KCNA1; KCNA2; KCNB1; KCNC1; KCNQ2; KCNQ3; KCNT1; KCTD7; KDM5C; KIF1A; L2HGDH; LGI1; MARS2; MBD5; MECP2; MED12; MEF2C; MFSD8; MLC1; MOCS1; MTHFR; MTOR; NDUFAF5; NECAP1; NEU1; NHLRC1; NOTCH3; NRXN1; OFD1; OPHN1; PCDH19; PGK1; PHF6; PIGA; PLCB1; PLP1; PNKP; PNPO; POLR3A; POLR3B; PPT1; PRICKLE1; PRICKLE2; PRODH; PRRT2; PSAP; PTS; PURA; QDPR; RAB39B; RELN; RNASEH2A; RNASEH2B; RNASEH2C; RNASET2; SAMHD1; SCARB2; SCN1A; SCN1B; SCN2A; SCN8A; SCN9A; SERPINI1; SIK1; SLC12A5; SLC13A5; SLC19A3; SLC25A15; SLC25A22; SLC2A1; SLC35A2; SLC46A1; SLC6A1; SLC6A8; SLC9A6; SMS; SNAP25; SOX10; SPTAN1; ST3GAL3; ST3GAL5; STX1B; STXBP1; SUMF1; SUOX; SYN1; SYNGAP1; SZT2; TBC1D24; TCF4; TPP1; TREX1; TSC1; TSC2; TUBB4A; UBE2A; UBE3A; WDR45; WWOX; ZEB2
2194 PLNDetails -
Epilepsy and X-linked epileptic disorders
22 genesARHGEF9; ARX; ATRX; CASK; CDKL5; CUL4B; GRIA3; HSD17B10; IQSEC2; KDM5C; MECP2; MED12; OFD1; OPHN1; PCDH19; PGK1; PHF6; RAB39B; SLC9A6; SMS; SYN1; UBE2A
2194 PLNDetails -
Epileptic encephalopathies
202 genesAARS; ABAT; ACTL6B; ACY1; ADAM22; ADAR; ADPRHL2; ADSL; ALDH7A1; ALG13; AMT; AP2M1; AP3B2; APOPT1; ARHGEF9; ARV1; ASNS; ATP6V1A; BRAT1; CACNA1A; CACNA1B; CACNA1E; CACNA2D2; CAD; CASK; CDKL5; CHD2; CLCN4; CLTC; CNKSR2; CNPY3; CNTNAP2; COX6B1; CPT2; CUX2; CYFIP2; D2HGDH; DALRD3; DCX; DENND5A; DMXL2; DNM1; DNM1L; DOCK7; ECHS1; EEF1A2; ETHE1; FAR1; FARS2; FGF12; FLNA; FOLR1; FOXG1; FRRS1L; GABBR2; GABRA1; GABRA2; GABRA5; GABRB1; GABRB2; GABRB3; GABRG2; GAMT; GCSH; GLDC; GLS; GNAO1; GOT2; GPHN; GRIN1; GRIN2A; GRIN2B; GRIN2D; GTPBP3; GUF1; HCN1; HECW2; HEPACAM; HIBCH; HNRNPU; HTT; ITPA; JRK; KCNA2; KCNB1; KCNJ10; KCNMA1; KCNQ2; KCNQ3; KCNQ5; KCNT1; KCNT2; KCTD3; KIF1A; LRPPRC; LYRM7; MAGI2; MAPK10; MBD5; MDH2; MECP2; MED17; MEF2C; MOCS1; MRPL44; MTFMT; MTHFR; NACC1; NDUFAF6; NDUFS2; NDUFS4; NDUFS6; NDUFS7; NDUFS8; NDUFV1; NECAP1; NEUROD2; NRXN1; NTRK2; NUBPL; PACS2; PARS2; PCDH19; PHACTR1; PIGA; PIGB; PIGP; PIGQ; PIGS; PIGW; PLAA; PLCB1; PNKP; PNPO; POLG; PPP3CA; PROSC; PRRT2; PTPN23; PURA; RANBP2; RHOBTB2; RMND1; RNASEH2A; RNASEH2B; RNASEH2C; RNF13; ROGDI; SAMHD1; SCN1A; SCN1B; SCN2A; SCN3A; SCN8A; SCN9A; SCO1; SDHAF1; SERAC1; SIK1; SLC12A5; SLC13A5; SLC19A3; SLC1A2; SLC25A1; SLC25A12; SLC25A22; SLC2A1; SLC35A2; SLC6A8; SLC9A6; SMC1A; SNAP25; SPTAN1; ST3GAL3; ST3GAL5; STXBP1; SYN1; SYNGAP1; SYNJ1; SZT2; TBC1D24; TBCD; TBCE; TBCK; TCF4; TRAK1; TREX1; TRIM8; TSC1; TSC2; TTC19; UBA5; UBE3A; UGDH; UGP2; UNC80; VARS; WARS2; WDR45; WWOX; YWHAG; ZEB2
2194 PLNDetails -
Fahr's syndrome
4 genesPDGFB; PDGFRB; SLC20A2; XPR1
1894 PLNDetails -
Hemiplegic migraine
3 genesATP1A2; CACNA1A; SCN1A
1894 PLNDetails -
Idiopathic epilepsy
42 genesALDH7A1; AMACR; CACNA1H; CACNB4; CASR; CHRNA2; CHRNA4; CHRNB2; CLCN2; CPA6; DEPDC5; EFHC1; GABRA1; GABRB3; GABRD; GABRG2; GRIN2A; JRK; KCNA1; KCNC1; KCNMA1; KCNQ2; KCNQ3; KCNT1; LGI1; MTOR; NPRL3; POLG; PRRT2; RELN; RORB; SCN1A; SCN1B; SCN2A; SCN8A; SCN9A; SLC12A5; SLC2A1; SLC6A1; SRPX2; STX1B; TBC1D24
2194 PLNDetails -
Janz syndrome
6 genesCACNB4; CLCN2; EFHC1; GABRA1; GABRD; ICK
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Leukodystrophies and leukoencephalopathies
118 genesAARS2; ABCD1; ACBD5; ACOX1; ADAR; AIFM1; AIMP1; AIMP2; ALDH3A2; AP4B1; AP4E1; AP4M1; AP4S1; APOPT1; ARSA; ASPA; BEST1; C11orf73; CLCN2; COA7; COL4A1; COX15; COX6B1; CSF1R; CTC1; CYP27A1; D2HGDH; DARS; DARS2; DEGS1; EARS2; EIF2AK1; EIF2AK2; EIF2B1; EIF2B2; EIF2B3; EIF2B4; EIF2B5; EPRS; FA2H; FAM126A; FDX1L; FOLR1; FOXRED1; GALC; GFAP; GFM1; GJC2; HEPACAM; HIBCH; HSD17B4; HSPD1; HTRA1; IBA57; L2HGDH; LMNB1; LYRM7; MARS2; MLC1; MRPL44; MTFMT; NDUFAF5; NDUFV1; NFU1; NKX6-2; NOTCH3; NT5C2; NUBPL; PEX1; PEX10; PEX11B; PEX12; PEX13; PEX14; PEX16; PEX19; PEX2; PEX26; PEX3; PEX5; PEX6; PEX7; PHYH; PLEKHG2; PLP1; POLR1C; POLR3A; POLR3B; PSAP; PYCR2; RARS; RNASEH2A; RNASEH2B; RNASEH2C; RNASET2; RNF216; SAMHD1; SCO1; SCP2; SDHA; SDHAF1; SERAC1; SLC13A3; SLC16A2; SLC1A4; SNORD118; SOX10; SUMF1; TMEM106B; TMEM63A; TREM2; TREX1; TTC19; TUBB4A; TYROBP; UFM1; VPS11; ZFYVE26
2194 PLNDetails -
Limb-girdle dystrophies and CK-emias
173 genesACAD9; ACADVL; ACTA1; AGL; AGRN; ALG14; ALG2; AMPD1; ANO5; ATP2A1; B3GALNT2; BAG3; BICD2; BIN1; BVES; CACNA1S; CAPN3; CASQ1; CAV3; CCDC78; CFL2; CHAT; CHKB; CHRNA1; CHRNB1; CHRND; CHRNE; CHRNG; CLCN1; CLN3; CNTN1; COL12A1; COL4A1; COL4A2; COL6A1; COL6A2; COL6A3; COLQ; CPT2; CRYAB; DAG1; DES; DMD; DMPK; DNAJB6; DNM2; DPAGT1; DPM1; DPM2; DPM3; DTNA; DYSF; EMD; ENO3; ETFB; ETFDH; FAM111B; FDX1L; FHL1; FKBP14; FKRP; FKTN; FLNC; FRG1; GAA; GBE1; GFPT1; GMPPB; GNE; GOLGA2; GYG1; GYS1; HNRNPDL; INPP5K; ISCU; ISPD; ITGA7; KBTBD13; KLHL40; KLHL41; LAMA2; LAMB2; LAMP2; LARGE; LDB3; LDHA; LIMS2; LMNA; LMOD3; LPIN1; LRP12; MAMLD1; MEGF10; MICU1; MLTK; MME; MSTN; MSTO1; MTM1; MTMR14; MUSK; MYF6; MYH2; MYH7; MYO18B; MYOT; NDUFV1; NEB; NR0B1; OPA1; PABPN1; PFKM; PGAM2; PGK1; PGM1; PHKA1; PHKB; PLEC; PNPLA2; POGLUT1; POLG; POMGNT1; POMGNT2; POMK; POMT1; POMT2; POPDC3; PREPL; PRKAG2; PTRF; PYGM; PYROXD1; RAB40AL; RAPSN; RBCK1; RYR1; SCN4A; SEPN1; SEPT9; SGCA; SGCB; SGCD; SGCE; SGCG; SLC22A5; SLC25A20; SLCO1B1; SMCHD1; SPEG; SPTBN4; STAC3; STIM1; SYNE1; SYNE2; SYT2; TCAP; TIA1; TK2; TMEM126B; TMEM43; TNNT1; TNPO3; TOR1AIP1; TPM2; TPM3; TRAPPC11; TRIM32; TRIM54; TRIM63; TTN; VCP; VMA21; VPS13A
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Metabolic epilepsy
45 genesABAT; ADSL; AGA; ALDH5A1; ALDH7A1; AMT; ARG1; BTD; D2HGDH; DHFR; DNM1L; DPYD; DPYS; ETFA; ETFB; ETFDH; ETHE1; FH; GAMT; GCDH; GCH1; GLDC; GNE; GPHN; HIBCH; L2HGDH; MIPEP; MOCS1; MTHFR; NDUFAF3; NDUFS6; PGK1; PNPO; POLG; PRODH; PTS; QDPR; SERAC1; SLC25A15; SLC25A42; SLC2A1; SLC46A1; SUOX; TPK1; WARS2
2194 PLNDetails -
Migraines
26 genesASTN2; ATP1A2; ATP1A3; CACNA1A; CARF; CFDP1; HPSE2; IGSF9B; KCNK18; KCNK5; MEF2D; MRVI1; NOTCH3; NRP1; PHACTR1; PLCE1; POLG; PRDM16; PRRT2; RNF213; SCN1A; SLC1A3; SLC24A3; SLC2A1; SUGCT; YAP1
2194 PLNDetails -
Myastenic syndrome
27 genesAGRN; ALG2; CHAT; CHRNA1; CHRNB1; CHRND; CHRNE; CHRNG; COL13A1; COLQ; DOK7; DPAGT1; FLAD1; GFPT1; LAMB2; MUSK; MYO9A; PLEC; PREPL; RAPSN; SCN4A; SLC18A3; SLC25A1; SLC5A7; STIM1; SYT2; VAMP1
2194 PLNDetails -
Myoclonic epilepsies, Neuronal ceroid lipofuscinoses
33 genesAFG3L2; ASAH1; ATP13A2; BRAT1; CERS1; CLN3; CLN5; CLN6; CLN8; CSTB; CTSD; CTSF; DNAJC5; EPM2A; FOLR1; GABRB2; GOSR2; GRN; KCNC1; KCTD7; LMNB2; MFSD8; NEU1; NHLRC1; POLG; PPT1; PRICKLE1; PRICKLE2; SCARB2; SEMA6B; SERPINI1; TBC1D24; TPP1
2194 PLNDetails -
Myofibrillar myopathies
11 genesBAG3; CRYAB; DES; DNAJB6; FHL1; FLNC; KY; LDB3; MYOT; PYROXD1; TTN
2194 PLNDetails -
Myopathies
24 genesACTA1; ACTN2; BIN1; CCDC78; CFL2; CNTN1; DNM2; FHL1; KBTBD13; MAMLD1; MTM1; MTMR14; MYBPC1; MYF6; MYH7; MYL1; NEB; PAX7; RYR1; SEPN1; STAC3; TNNT1; TPM2; TPM3
2194 PLNDetails -
Myopathies and muscular dystrophies
173 genesACAD9; ACADVL; ACTA1; AGL; AGRN; ALG14; ALG2; AMPD1; ANO5; ATP2A1; B3GALNT2; BAG3; BICD2; BIN1; BVES; CACNA1S; CAPN3; CASQ1; CAV3; CCDC78; CFL2; CHAT; CHKB; CHRNA1; CHRNB1; CHRND; CHRNE; CHRNG; CLCN1; CLN3; CNTN1; COL12A1; COL4A1; COL4A2; COL6A1; COL6A2; COL6A3; COLQ; CPT2; CRYAB; DAG1; DES; DMD; DMPK; DNAJB6; DNM2; DPAGT1; DPM1; DPM2; DPM3; DTNA; DYSF; EMD; ENO3; ETFB; ETFDH; FAM111B; FDX1L; FHL1; FKBP14; FKRP; FKTN; FLNC; FRG1; GAA; GBE1; GFPT1; GMPPB; GNE; GOLGA2; GYG1; GYS1; HNRNPDL; INPP5K; ISCU; ISPD; ITGA7; KBTBD13; KLHL40; KLHL41; LAMA2; LAMB2; LAMP2; LARGE; LDB3; LDHA; LIMS2; LMNA; LMOD3; LPIN1; LRP12; MAMLD1; MEGF10; MICU1; MLTK; MME; MSTN; MSTO1; MTM1; MTMR14; MUSK; MYF6; MYH2; MYH7; MYO18B; MYOT; NDUFV1; NEB; NR0B1; OPA1; PABPN1; PFKM; PGAM2; PGK1; PGM1; PHKA1; PHKB; PLEC; PNPLA2; POGLUT1; POLG; POMGNT1; POMGNT2; POMK; POMT1; POMT2; POPDC3; PREPL; PRKAG2; PTRF; PYGM; PYROXD1; RAB40AL; RAPSN; RBCK1; RYR1; SCN4A; SEPN1; SEPT9; SGCA; SGCB; SGCD; SGCE; SGCG; SLC22A5; SLC25A20; SLCO1B1; SMCHD1; SPEG; SPTBN4; STAC3; STIM1; SYNE1; SYNE2; SYT2; TCAP; TIA1; TK2; TMEM126B; TMEM43; TNNT1; TNPO3; TOR1AIP1; TPM2; TPM3; TRAPPC11; TRIM32; TRIM54; TRIM63; TTN; VCP; VMA21; VPS13A
2194 PLNDetails -
Neuropathy and nemaline myopathy
13 genesACTA1; BIN1; CFL2; KBTBD13; KLHL40; KLHL41; LMOD3; MTM1; MYPN; NEB; TNNT1; TPM2; TPM3
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Parkinson disease
44 genesATP13A2; ATP1A3; ATP6AP2; ATP7B; C19orf12; CHCHD2; DCTN1; DNAJC6; EIF4G1; FBXO7; FTL; FUS; GBA; GCH1; GIGYF2; GRN; HTRA2; LRRK2; MAPT; PANK2; PARK2; PARK7; PDGFB; PDGFRB; PINK1; PLA2G6; PRKRA; RAB39B; SLC20A2; SLC30A10; SLC39A14; SLC6A3; SNCA; SNCB; SPR; SYNJ1; TH; TMEM230; UCHL1; VPS13A; VPS13C; VPS35; WDR45; XPR1
2194 PLNDetails -
Periodic paralysis
5 genesCACNA1S; CLCN1; KCNE3; KCNJ2; SCN4A
1894 PLNDetails -
Spastic paraplegia
102 genesABCD1; AFG3L2; ALDH18A1; ALS2; AP4B1; AP4E1; AP4M1; AP4S1; AP5Z1; ARG1; ARL6IP1; ATAD3A; ATL1; ATP13A2; B4GALNT1; BICD2; BSCL2; BTD; C12orf65; C19orf12; CACNA1G; CAPN1; CCT5; COASY; CPT1C; CTNNB1; CYP27A1; CYP2U1; CYP7B1; DARS; DDHD1; DDHD2; DSTYK; ENTPD1; EPT1; ERLIN1; ERLIN2; EXOSC3; FA2H; FARS2; FXN; GALC; GBA2; GBE1; GCH1; GJC2; GPT2; HACE1; HSPD1; IBA57; IRF2BPL; KDM5C; KIAA0196; KIDINS220; KIF1A; KIF1C; KIF5A; KLC2; L1CAM; L2HGDH; LONP1; MAG; MARS; MARS2; NIPA1; NKX6-2; NT5C2; OPA3; PAH; PCYT2; PGAP1; PLP1; PNPLA6; RAB3GAP2; RARS; REEP1; REEP2; RTN2; SACS; SETX; SLC16A2; SLC1A4; SLC25A15; SLC33A1; SPAST; SPG11; SPG20; SPG21; SPG7; SPR; TECPR2; TFG; TH; TTR; TUBB3; UBAP1; UCHL1; USP8; VAMP1; VPS37A; ZFYVE26; ZFYVE27
2194 PLNDetails -
Spastic paraplegia, dominant
18 genesALDH18A1; AP4E1; ATL1; BSCL2; GJC2; HSPD1; KIAA0196; KIDINS220; KIF1A; KIF5A; NIPA1; REEP1; RTN2; SLC33A1; SPAST; SPG7; UBAP1; ZFYVE27
2194 PLNDetails -
Spastic paraplegia, dominant - small panel
5 genesATL1; KIF1A; REEP1; RTN2; SPAST
1894 PLNDetails -
Spastic paraplegia, recessive
48 genesAFG3L2; ALDH18A1; AP4B1; AP4E1; AP4M1; AP4S1; AP5Z1; ARL6IP1; ATP13A2; B4GALNT1; BSCL2; C12orf65; C19orf12; CAPN1; CCT5; CYP2U1; CYP7B1; DDHD1; DDHD2; DSTYK; ENTPD1; EPT1; ERLIN1; ERLIN2; FA2H; FARS2; GBA2; GJC2; GPT2; HACE1; HSPD1; IBA57; KIAA0196; KIDINS220; KIF1A; MAG; NT5C2; PCYT2; PNPLA6; SLC33A1; SPG11; SPG20; SPG21; SPG7; TECPR2; UCHL1; VPS37A; ZFYVE26
2194 PLNDetails -
Spina bifida occulta
3 genesFUZ; VANGL1; VANGL2
1894 PLNDetails -
Spinal muscular atrophy
33 genesAARS; AR; ASAH1; ASCC1; ATP7A; BICD2; BSCL2; CHCHD10; DCTN1; DNAJB2; DYNC1H1; DYSF; EXOSC3; EXOSC8; FBXO38; GARS; HEXA; HSPB1; HSPB3; HSPB8; IGHMBP2; KDSR; LAS1L; PLEKHG5; REEP1; SCO2; SLC5A7; TBCE; TRIP4; TRPV4; UBA1; VAPB; VRK1
2194 PLNDetails -
Walker-Warburg syndrome
14 genesB3GALNT2; B3GNT1; DAG1; FKRP; FKTN; GMPPB; ISPD; LARGE; POMGNT1; POMGNT2; POMK; POMT1; POMT2; TMEM5
2194 PLNDetails -
X-linked intellectual disabilities
111 genesABCD1; ACSL4; AFF2; AGTR2; AP1S2; ARHGEF6; ARHGEF9; ATP6AP2; ATP7A; ATRX; BCOR; BRWD3; CASK; CCDC22; CDKL5; CLCN4; CNKSR2; CUL4B; DCX; DDX3X; DKC1; DLG3; EIF2S3; ELK1; FANCB; FGD1; FLNA; FMR1; FRMPD4; FTSJ1; GDI1; GK; GPC3; GRIA3; HCCS; HPRT1; HSD17B10; HUWE1; IDS; IGBP1; IL1RAPL1; IQSEC2; KDM5C; KIAA2022; KLF8; L1CAM; LAMP2; LAS1L; MAGT1; MAOA; MBTPS2; MECP2; MED12; MID1; MTM1; NDP; NDUFA1; NHS; NKAP; NLGN3; NLGN4X; NONO; NSDHL; NXF5; OCRL; OFD1; OPHN1; OTC; PAK3; PCDH19; PDHA1; PGK1; PHF6; PHF8; PLP1; PORCN; PQBP1; PRPS1; PTCHD1; RAB39B; RBM10; RBMX; RLIM; RPL10; RPS6KA3; SHROOM4; SLC16A2; SLC6A8; SLC9A6; SLC9A7; SMC1A; SMS; SOX3; SRPX2; SYN1; SYP; TAF1; THOC2; TIMM8A; TSPAN7; UBE2A; UPF3B; USP9X; ZC4H2; ZCCHC12; ZDHHC15; ZDHHC9; ZNF41; ZNF674; ZNF711; ZNF81
2194 PLNDetails -
Zaburzenia genów MCCC
2 genesMCCC1; MCCC2
1894 PLNDetails
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