Test 58.
Hereditary cerebellar ataxia
Characteristics of the test: (includes 661 genes)
Basic characteristics of the clinical phenotype:
Hereditary cerebellar ataxias (HMAs) represent a group of heterogeneous neurodegenerative diseases characterized by a slowly progressive loss of gait coordination and often associated with poor coordination of hand, speech and eye movements. Clinical manifestations may be due in combination or individually to disorders of the cerebellum, brainstem, spinal cord, peripheral nervous system, and sometimes other organs.Regarding the type of inheritance, autosomal dominant, autosomal recessive and X-linked patterns are observed. Some of the NMAs are associated with mutations in the mitochondrial genome. The most common genetic defects are associated with dynamic repeat expansions, so these types of causes need to be ruled out before next-generation sequencing is undertaken.
Reasons for referring:
Confirmation of diagnosis; Making a diagnosis; Determining the risk of developing a disease. Presence of familiality for NMA.
Slowly progressive loss of gait coordination and impaired coordination of hands, speech, and eye movements, imaging evidence of cerebellar atrophy.
Interpretation of the the results:
The detection of point mutations and small deletions/insertions in the genes from the panel will allow a genetic diagnosis of Hereditary Cerebral Ataxia or a disease/syndrome associated with symptoms of ataxia. Presence of expansions of dynamic repeats, responsible for the development of some forms of spinocerebellar ataxia or Friedreich's ataxia, as well as large deletions and insertions cannot be established by this method. A combination with a suitable analysis (TP-PCR, MLPA, aCGH) is recommended for their detection.
The genetic counselor will interpret and answer all your questions about your result.
Method: Next-generation sequencing.
The method involves bidirectional DNA sequencing of all coding exons and intron-exon boundaries of target genes. The laboratory offers Sanger sequencing of a single exon or a pair of exons in the patient's relatives to determine carrier status in cases where the mutation is known (Test #182)
Sensitivity of the method: depends on the content of GC and AT, as well as the presence of segmentally duplicated genes.
What does the test involve?
- DNA isolation and sample storage.
- Parallel sequencing of target genes.
- Bioinformatic analysis of sequencing data. For each patient, only data for the gene(s) of interest were analyzed.
Forming a written result of the genetic test.
-Diagnostic interpretation of results and genetic counseling.
Biological material: Venous blood or DNA
For more information, please read the "Biological material requirements and shipping information" carefully.
AAAS, AARS, AARS2, ABCA2, ABCB7, ABCD1, ABHD12, ACO2, ACTL6B, ADA2, ADAR, ADCK3, ADPRHL2, ADSL, AFG3L2, AGTPBP1, AHI1, AIFM1, AIMP1, ALDH18A1, ALDH5A1, ALG6, ALS2, AMACR, ANG, ANO10, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APOB, APTX, ARG1, ARL13B, ARL3, ARL6IP1, ARMC9, ARSA, ARV1, ARX, ASL, ASS1, ATAD3A, ATCAY, ATG5, ATL1, ATM, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP2B3, ATP2B4, ATP7A, ATP7B, ATP8A2, ATPAF2, ATRX, AUH, B4GALNT1, B9D1, B9D2, BCKDHA, BCKDHB, BCS1L, BEAN1, BICD2, BOLA3, BRAT1, BSCL2, BTD, C12ORF65, C19ORF12, C5ORF42, CA8, CACNA1A, CACNA1G, CACNA2D2, CACNB4, CAMTA1, CAPN1, CARS, CASK, CAV1, CC2D2A, CCDC23, CCDC88C, CCT5, CDK16, CDKL5, CEP104, CEP120, CEP290, CEP41, CHAMP1, CHCHD10, CHMP1A, CHMP2B, CHP1, CLCN2, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, COA5, COA8, COASY, COG1, COG4, COG5, COG7, COG8, COL18A1, COQ2, COQ4, COQ6, COQ9, COX10, COX14, COX15, COX20, COX6A2, COX6B1, CP, CPS1, CPT1C, CRAT, CSPP1, CSTB, CTBP1, CTC1, CTDP1, CTNNA2, CTNNB1, CTSA, CTSD, CTSF, CUL4B, CWF19L1, CYP27A1, CYP2U1, CYP7B1, DAB1, DARS1, DARS2, DBT, DCX, DDHD1, DDHD2, DGAT2, DHX30, DKC1, DLAT, DLD, DNAJC19, DNAJC3, DNAJC5, DNM1L, DNM2, DNMT1, DOCK3, DPM1, DPM2, DSTYK, DYNC1H1, EBF3, EEF2, EGR2, EIF2AK1, EIF2AK2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, ENTPD1, EPM2A, EPRS1, EPT1, ERBB4, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERLIN1, ERLIN2, ETHE1, EXOSC3, EXOSC8, EXOSC9, FA2H, FAM149B1, FARS2, FASTKD2, FAT1, FAT2, FBXL4, FGF12, FGF14, FIG4, FITM2, FKRP, FKTN, FLVCR1, FMR1, FOLR1, FOXG1, FOXRED1, FRMD4A, FTL, FUS, FXN, GABRB3, GAD1, GALC, GALNT2, GAMT, GAN, GBA, GBA2, GBE1, GCDH, GCH1, GCLC, GDAP2, GEMIN4, GEMIN5, GFAP, GJA1, GJB1, GJC2, GLB1, GLS, GMPPB, GOSR2, GPAA1, GPI, GPR56, GRIA2, GRIA4, GRID2, GRM1, GRN, GSS, GTPBP2, HACE1, HARS, HARS2, HCN1, HEPACAM, HERC1, HEXA, HEXB, HIBCH, HIKESHI, HIP1R, HLCS, HNRNPA1, HNRNPH2, HPDL, HSD17B4, HSPD1, HTRA1, IBA57, IFIH1, IFT140, INPP5E, IQSEC1, IRF2BPL, ITM2B, ITPR1, JAM2, KCNA1, KCNA2, KCNC1, KCNC3, KCND3, KCNJ10, KCNMA1, KCNQ2, KCTD7, KIAA0196, KIAA0556, KIAA0586, KIAA1715, KIDINS220, KIF1A, KIF1B, KIF1C, KIF5A, KIF7, KLC2, KY, L1CAM, L2HGDH, LAMA1, LARGE1, LIG4, LMNB1, LMNB2, LRP4, LRPPRC, LRSAM1, MAB21L1, MAG, MAN2B1, MAPK8IP3, MARS, MARS2, MAST1, MATR3, MBD5, MCOLN1, MECP2, MECR, MFSD8, MGAT2, MGME1, MKS1, MLC1, MMADHC, MME, MORC2, MPDU1, MPV17, MPZ, MRE11A, MSTO1, MTFMT, MTPAP, MTTP, MVK, NALCN, NARS, NAT8L, NAXE, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEU1, NF2, NFASC, NHLRC1, NIPA1, NKX2-1, NKX6-2, NOL3, NPC1, NPC2, NPHP1, NT5C2, NTNG2, NUBPL, NUP62, NUS1, OBFC1, OFD1, OPA1, OPA3, OPHN1, OPTN, OTC, OTUD4, PANK2, PAX6, PAX9, PC, PCDH12, PCDH19, PCLO, PCNA, PCYT2, PDE6D, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDYN, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFN1, PGK1, PGM3, PHYH, PIBF1, PIEZO2, PIGG, PIK3R5, PLA2G6, PLD3, PLP1, PMM2, PMP22, PMPCA, PMPCB, PNKD, PNKP, PNP, PNPLA6, POLG, POLR1A, POLR1C, POLR3A, POLR3B, POMGNT1, POMGNT2, POMT1, PPT1, PRDM8, PRF1, PRICKLE1, PRICKLE2, PRKCG, PRNP, PRPS1, PRRT2, PRX, PSAP, PSEN1, PTRH2, PTS, PUM1, PYCR2, QARS1, RAB11B, RARS1, RARS2, REEP1, REEP2, RELN, REPS1, RFC4, RFT1, RNASEH1, RNASEH2B, RNASET2, RNF168, RNF170, RNF216, ROGDI, RORA, RPGRIP1L, RPIA, RRM2B, RTN2, RTN4IP1, RUBCN, SACS, SAMD9L, SARS, SARS2, SCARB2, SCN1A, SCN2A, SCN8A, SCO1, SCYL1, SDHA, SDHAF1, SDHD, SELRC1, SEPSECS, SERAC1, SETX, SGCE, SH3TC2, SHMT2, SIGMAR1, SIL1, SLC13A3, SLC13A5, SLC16A2, SLC17A5, SLC19A2, SLC19A3, SLC1A3, SLC1A4, SLC20A2, SLC25A15, SLC25A46, SLC2A1, SLC30A9, SLC33A1, SLC39A4, SLC44A1, SLC46A1, SLC52A2, SLC52A3, SLC5A6, SLC6A1, SLC6A19, SLC9A1, SLC9A6, SNAP25, SNX14, SOD1, SOGA2, SOX10, SPART, SPAST, SPG11, SPG21, SPG7, SPR, SPTAN1, SPTBN2, SQSTM1, STUB1, STXBP1, SUCLG1, SUFU, SUMF1, SUOX, SURF1, SYNE1, SYT14, TACO1, TANC2, TARDBP, TBC1D23, TBC1D24, TBCE, TBK1, TCF20, TCF4, TCN2, TCTN1, TCTN2, TCTN3, TDP1, TDP2, TECPR2, TELO2, TFG, TGM6, TH, THG1L, TINF2, TMEM106B, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM240, TMEM63A, TMEM67, TMEM70, TOE1, TOP3A, TPK1, TPP1, TRAPPC11, TRAPPC6B, TRIM32, TRNT1, TRPC3, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TTBK2, TTC19, TTC21B, TTC8, TTPA, TTR, TUBA1A, TUBA4A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TWNK, TXN2, TYMP, TYROBP, UBA5, UBAP1, UBE3A, UBQLN2, UBR4, UBTF, UCHL1, UNC80, UQCRB, UQCRQ, UROC1, VAMP1, VAPB, VARS2, VCP, VLDLR, VPS11, VPS13D, VPS37A, VPS53, VRK1, VWA3B, WARS2, WDR26, WDR45B, WDR62, WDR73, WDR81, WFS1, WWOX, XPA, XRCC1, XRCC4, YME1L1, ZFYVE26, ZIC1, ZIC4, ZNF423, ZSWIM6
