Ataxia Panel

SEQmethod-seq-icon Our Sequence Analysis is based on a proprietary targeted sequencing method OS-Seq™ and offers panels targeted for genes associated with certain phenotypes. A standard way to analyze NGS data for finding the genetic cause for Mendelian disorders. Results in 21 days. DEL/DUPmethod-dup-icon Targeted Del/Dup (CNV) analysis is used to detect bigger disease causing deletions or duplications from the disease-associated genes. Results in 21 days. PLUSmethod-plus-icon Plus Analysis combines Sequence + Del/Dup (CNV) Analysis providing increased diagnostic yield in certain clinical conditions, where the underlying genetic defect may be detectable by either of the analysis methods. Results in 21 days.

Test code: NE2101

The Blueprint Genetics Ataxia Panel is a 141 gene test for genetic diagnostics of patients with clinical suspicion of cerebellar ataxia, episodic ataxia or spinocerebellar ataxia.

Hereditary ataxia can be inherited in an autosomal recessive, autosomal dominant or X-linked manner. The clinical utility of a multi-gene panel for diagnosis of hereditary ataxias has been shown to be efficient, cost effective and enabled a molecular diagnosis in many refractory cases (PMID: 24030952). By sequencing 58 known human ataxia genes in 50 heterogeneous patients with ataxia who had been extensively investigated and were refractory to diagnosis, the overall detection rate of 18% was achieved. It was 40% in those with a childhood or adolescent onset progressive disorder and 75% in those with an adolescent onset and a family history.

About Ataxia

The hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. The episodic ataxias are characterized by periods of unsteady gait often associated with nystagmus or dysarthria. Myokymia, vertigo, or hearing loss may occur in some of the subtypes. Permanent ataxia and even cerebellar atrophy may result late in the disease course. Prevalence of the autosomal dominant cerebellar ataxias (ADCAs) is estimated to be approximately 1-5:100,000. Often, one autosomal dominant ataxia cannot be differentiated from another because the most frequent manifestations of all of AD ataxias are progressive adult-onset gait ataxia and dysarthria associated with cerebellar atrophy on brain imaging; secondly, the ages of onset often overlap. Most ADCAs are spinocerebellar ataxias (SCA) or episodic ataxias. Autosomal recessive types of hereditary ataxia account for approximately 3:100,000 with Friedreich ataxia, ataxia-telangiectasia, and ataxia oculomotor apraxia being most common. Most of the spastic ataxias are recessively inherited.

Availability

Results in 3-4 weeks.

Genes in the Ataxia Panel and their clinical significance
GeneAssociated phenotypesInheritanceClinVarHGMD
ABCB7Anemia, sideroblastic, and spinocerebellar ataxiaXL96
ABHD12Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataractAR1015
ACO2Optic atrophy, Infantile cerebellar-retinal degenerationAR1212
ADCK3Coenzyme Q10 deficiency, Progressive cerebellar ataxia and atrophy, Spinocerebellar ataxiaAR2037
AFG3L2*Spastic ataxia, Spinocerebellar ataxiaAD/AR1925
AHI1Joubert syndromeAR4770
ALDH5A1Succinic semialdehyde dehydrogenase deficiencyAR867
ANO10Spinocerebellar ataxiaAR1117
APTXAtaxia, early-onset, with oculomotor apraxia and hypoalbuminemiaAR1039
ARL6Bardet-Biedl syndrome, Retinitis pigmentosaAR921
ARL13BJoubert syndromeAR97
ATCAYAtaxia, cerebellar, CaymanAR12
ATMBreast cancer, Ataxia-TelangiectasiaAD/AR455853
ATN1Dentatorubro-pallidoluysian atrophyAD43
ATP8A2Dysequilibrium syndromeAR16
ATXN1Spinocerebellar ataxiaAD35
ATXN2Spinocerebellar ataxiaAD138
ATXN3Spinocerebellar ataxia (Machado-Joseph disease)AD23
ATXN7Spinocerebellar ataxiaAD15
ATXN10Spinocerebellar ataxiaAD54
BBS1Bardet-Biedl syndromeAR1992
BBS2Bardet-Biedl syndrome, Retinitis pigmentosaAR3084
BBS4Bardet-Biedl syndromeAR1345
BBS5Bardet-Biedl syndromeAR1027
BBS7Bardet-Biedl syndromeAR1236
BBS9Bardet-Biedl syndromeAR2142
BBS10Bardet-Biedl syndromeAR2396
BBS12Bardet-Biedl syndromeAR859
BEAN1Spinocerebellar ataxiaAD11
C5ORF42Orofaciodigital syndrome, Joubert syndromeAR63
C10ORF2Perrault syndrome, Mitochondrial DNA depletion syndromeAR31
CA8Cerebellar ataxia, mental retardation, and dysequilibrium syndromeAR24
CACNA1AMigraine, familial hemiplegic, Episodic ataxiaAD55181
CACNB4Episodic ataxiaAD16
CAMTA1Cerebellar ataxia, nonprogressive, with mental retardationAD168
CASKMental retardation and microcephaly with pontine and cerebellar hypoplasia, FG syndrome, Mental retardationXL4380
CC2D2ACOACH syndrome, Joubert syndrome, Meckel syndromeAR6480
CCDC28BBardet-Biedl syndrome, modifierAD
CCDC88CSpinocerebellar ataxiaAD54
CEP41Joubert syndromeAR/Digenic710
CEP290*Bardet-Biedl syndrome, Leber congenital amaurosis, Joubert syndrome, Senior-Loken syndrome, Meckel syndromeAR79252
CLCN2Leukoencephalopathy with ataxia, EpilepsyAD/AR1829
CLN5Ceroid lipofuscinosis, neuronalAR4042
CLPPDeafnessAR36
COX20Mitochondrial complex IV deficiencyAR31
CSTBEpilepsy, progressive myoclonicAR1613
CWF19L1Spinocerebellar ataxiaAR34
CYP27A1Cerebrotendinous xanthomatosisAR5599
DNAJC193-methylglutaconic aciduriaAR43
DNMT1Neuropathy, hereditary sensory, Cerebellar ataxia, deafness, and narcolepsyAD819
EEF2Spinocerebellar ataxiaAD11
ELOVL4Stargardt disease, Icthyosis, spastic quadriplegia, and mental retardation, Spinocerebellar ataxiaAD/AR612
ELOVL5Spinocerebellar ataxiaAD23
FBXL4Mitochondrial DNA depletion syndromeAR1127
FGF14Spinocerebellar ataxiaAD57
FLVCR1Ataxia, posterior column, with retinitis pigmentosaAR412
FMR1Premature ovarian failureXL1178
FXN*Friedreich ataxiaAR1165
GBA2Cerebellar ataxia with spasticityAR913
GFAPAlexander diseaseAD110112
GOSR2*Epilepsy, progessive myoclonicAR53
GRID2Spinocerebellar ataxiaAR713
GRM1Spinocerebellar ataxiaAR216
GSSGlutathione synthetase deficiencyAR734
HARS2Perrault syndromeAR63
HTTHuntington diseaseAD58
INPP5EJoubert syndrome, Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)AR1941
ITM2BDementia, familial Danish, Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities, Cerebral amyloid angiopathyAD33
ITPR1Spinocerebellar ataxiaAD2256
KCNA1Episodic ataxia/myokymia syndromeAD2037
KCNC3Spinocerebellar ataxiaAD48
KCND3Brugada syndromeAD615
KCNJ10Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAME syndrome), Pendred syndrome, Enlarged vestibular aqueductAR/Digenic1426
KIF1C*Spastic ataxiaAR67
KIF7Acrocallosal syndrome, Hydrolethalus syndrome, Al-Gazali-Bakalinova syndrome, Joubert syndromeAR/Digenic1339
LAMA1Poretti-Boltshauser syndromeAR1335
LARS2Perrault syndromeAR99
MARS2Combined oxidative phosphorylation deficiencyAR65
MKKSBardet-Biedl syndrome, McKusick-Kaufman syndromeAR1357
MKS1Bardet-Biedl syndrome, Meckel syndromeAR3947
MRE11AAD2538
MTPAPSpastic ataxiaAR12
MTTPAbetalipoproteinemiaAR969
NEDD4Spinocerebellar ataxiaAD1
NOL3Myoclonus, familial corticalAD12
NOP56Spinocerebellar ataxiaAD21
NPHP1Nephronophthisis, Joubert syndrome, Senior-Loken syndromeAR1264
OFD1Simpson-Golabi-Behmel syndrome, Retinitis pigmentosa, Orofaciodigital syndrome, Joubert syndromeXL129148
OPA1Glaucoma, normal tensionAD67357
OPHN1Mental retardation, with cerebellar hypoplasia and distinctive facial appearanceXL1334
PAX6Aniridia, cerebellar ataxia, and mental retardation (Gillespie syndrome), Keratitis, Coloboma, ocular, Cataract with late-onset corneal dystrophy, Morning glory disc anomaly, Foveal hypoplasia, Aniridia, Optic nerve hypoplasia, Peters anomalyAD49461
PDYNSpinocerebellar ataxiaAD418
PEX7Refsum diseaseAR1751
PHYHRefsum diseaseAR936
PNKDParoxysmal non-kinesigenic dyskinesiaAD33
PNKPEpileptic encephalopathy, early infantile, Ataxia-oculomotorAR2116
PNPLA6Laurence-Moon syndrome, Boucher-Neuhauser syndromeAR1649
POLGPOLG-related ataxia neuropathy spectrum disorders, Sensory ataxia, dysarthria, and ophthalmoparesis, Alpers syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndromeAD/AR71265
PPP2R2BSpinocerebellar ataxiaAD15
PRKCGSpinocerebellar ataxiaAD/AR2839
PRRT2Episodic kinesigenic dyskinesiaAD3291
RPGRIP1LCOACH syndrome, Joubert syndrome, Meckel syndrome, Retinal degeneration in ciliopathy, modifierAD/AR2841
RUBCNSpinocerebellar ataxiaAR2
SACSSpastic ataxia, Charlevoix-SaguenayAR34220
SETXAtaxia with oculomotor apraxia, Amyotrophic lateral sclerosis, juvenile, Spinocerebellar ataxiaAD/AR25185
SIL1Marinesco-Sjogren syndromeAR1449
SLC1A3Episodic ataxiaAD39
SLC2A1Stomatin-deficient cryohydrocytosis with neurologic defects, Epilepsy, idiopathic generalized, GLUT1 deficiency syndromeAD/AR65253
SLC9A6Mental retardation, syndromic, ChristiansonXL2118
SLC52A2Brown-Vialetto-Van Laere syndromeAR1916
SNX14Spinocerebellar ataxiaAR711
SPG7Spastic paraplegiaAR42104
SPTBN2Spinocerebellar ataxiaAD/AR1111
STUB1Spinocerebellar ataxiaAR919
SYT14*Spinocerebellar ataxiaAR32
TBPSpinocerebellar ataxiaAD/AR117
TCTN1Joubert syndromeAR66
TCTN2Joubert syndrome, Meckel syndromeAR1513
TCTN3Orofaciodigital syndrome (Mohr-Majewski syndrome), Joubert syndromeAR810
TDP1Spinocerebellar ataxia, with axonal neuropathyAR12
TGM6Spinocerebellar ataxiaAD511
TMEM67Nephronophthisis, COACH syndrome, Joubert syndrome, Meckel syndromeAR78138
TMEM138Joubert syndromeAR66
TMEM216Joubert syndrome, Meckel syndromeAR88
TMEM231Joubert syndrome, Meckel syndromeAR716
TMEM237Joubert syndromeAR610
TMEM240Spinocerebellar ataxiaAD66
TPP1Ceroid lipofuscinosis, neuronal, Spinocerebellar ataxiaAR33109
TRIM32Bardet-Biedl syndrome, Muscular dystrophy, limb-girdleAR715
TTBK2Spinocerebellar ataxiaAD44
TTC8Bardet-Biedl syndrome, Retinitis pigmentosaAR516
TTPAAtaxia with isolated vitamin E deficiencyAR1928
TUBB4A*Leukodystrophy, hypomyelinating, DystoniaAD3536
VAMP1Spastic ataxiaAD11
VLDLRCerebellar ataxia, mental retardation, and dysequilibrium syndromeAR921
WDPCPMeckel-Gruber syndrome, modifier, Bardet-Biedl syndrome, Congenital heart defects, hamartomas of tongue, and polysyndactylyAR57
WDR81Dysequilibrium syndromeAR53
WFS1Wolfram syndromeAR59343
WWOXEpileptic encephalopathy, early infantile, Spinocerebellar ataxiaAR1935
ZNF423Nephronophthisis, Joubert syndromeAD/AR76
ZNF592*Spinocerebellar ataxiaAR1
  • * Some regions of the gene are duplicated in the genome leading to limited sensitivity within the regions. Thus, low-quality variants are filtered out from the duplicated regions and only high-quality variants confirmed by other methods are reported out. Read more.

Gene, refers to HGNC approved gene symbol; Inheritance to inheritance patterns such as autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL); ClinVar, refers to a number of variants in the gene classified as pathogenic or likely pathogenic in ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/); HGMD, refers to a number of variants with possible disease association in the gene listed in Human Gene Mutation Database (HGMD, http://www.hgmd.cf.ac.uk/ac/). The list of associated (gene specific) phenotypes are generated from CDG (http://research.nhgri.nih.gov/CGD/) or Orphanet (http://www.orpha.net/) databases.

Blueprint Genetics offers a comprehensive ataxia panel that covers classical genes associated with cerebellar ataxia, episodic ataxia and spinocerebellar ataxia. The genes are carefully selected based on the existing scientific evidence, our experience and most current mutation databases. Candidate genes are excluded from this first-line diagnostic test. The test does not recognise balanced translocations or complex inversions, and it may not detect low-level mosaicism. The test should not be used for analysis of sequence repeats or for diagnosis of disorders caused by mutations in the mitochondrial DNA.

Please see our latest validation report showing sensitivity and specificity for SNPs and indels, sequencing depth, % of the nucleotides reached at least 15x coverage etc. If the Panel is not present in the report, data will be published when the Panel becomes available for ordering. Analytical validation is a continuous process at Blueprint Genetics. Our mission is to improve the quality of the sequencing process and each modification is followed by our standardized validation process. All the Panels available for ordering have sensitivity and specificity higher than > 0.99 to detect single nucleotide polymorphisms and a high sensitivity for indels ranging 1-19 bp. The diagnostic yield varies substantially depending on the used assay, referring healthcare professional, hospital and country. Blueprint Genetics’ Plus Analysis (Seq+Del/Dup) maximizes the chance to find molecular genetic diagnosis for your patient although Sequence Analysis or Del/Dup Analysis may be cost-effective first line test if your patient’s phenotype is suggestive for a specific mutation profile. Detection limit for Del/Dup analysis varies through the genome from one to six exon Del/Dups depending on exon size, sequencing coverage and sequence content.

The sequencing data generated in our laboratory is analyzed with our proprietary data analysis and annotation pipeline, integrating state-of-the art algorithms and industry-standard software solutions. Incorporation of rigorous quality control steps throughout the workflow of the pipeline ensures the consistency, validity and accuracy of results. The highest relevance in the reported variants is achieved through elimination of false positive findings based on variability data for thousands of publicly available human reference sequences and validation against our in-house curated mutation database as well as the most current and relevant human mutation databases. Reference databases currently used are the 1000 Genomes Project (http://www.1000genomes.org), the NHLBI GO Exome Sequencing Project (ESP; http://evs.gs.washington.edu/EVS), the Exome Aggregation Consortium (ExAC; http://exac.broadinstitute.org), ClinVar database of genotype-phenotype associations (http://www.ncbi.nlm.nih.gov/clinvar) and the Human Gene Mutation Database (http://www.hgmd.cf.ac.uk). The consequence of variants in coding and splice regions are estimated using the following in silico variant prediction tools: SIFT (http://sift.jcvi.org), Polyphen (http://genetics.bwh.harvard.edu/pph2/), and Mutation Taster (http://www.mutationtaster.org).

Through our online ordering and statement reporting system, Nucleus, the customer can access specific details of the analysis of the patient. This includes coverage and quality specifications and other relevant information on the analysis. This represents our mission to build fully transparent diagnostics where the customer gains easy access to crucial details of the analysis process.

In addition to our cutting-edge patented sequencing technology and proprietary bioinformatics pipeline, we also provide the customers with the best-informed clinical report on the market. Clinical interpretation requires fundamental clinical and genetic understanding. At Blueprint Genetics our geneticists and clinicians, who together evaluate the results from the sequence analysis pipeline in the context of phenotype information provided in the requisition form, prepare the clinical statement. Our goal is to provide clinically meaningful statements that are understandable for all medical professionals, even without training in genetics.

Variants reported in the statement are always classified using the Blueprint Genetics Variant Classification Scheme modified from the ACMG guidelines (Richards et al. 2015), which has been developed by evaluating existing literature, databases and with thousands of clinical cases analyzed in our laboratory. Variant classification forms the corner stone of clinical interpretation and following patient management decisions. Our statement also includes allele frequencies in reference populations and in silico predictions. We also provide PubMed IDs to the articles or submission numbers to public databases that have been used in the interpretation of the detected variants. In our conclusion, we summarize all the existing information and provide our rationale for the classification of the variant.

A final component of the analysis is the Sanger confirmation of the variants classified as likely pathogenic or pathogenic. This does not only bring confidence to the results obtained by our NGS solution but establishes the mutation specific test for family members. Sanger sequencing is also used occasionally with other variants reported in the statement. In the case of variant of uncertain significance (VUS) we do not recommend risk stratification based on the genetic finding. Furthermore, in the case VUS we do not recommend use of genetic information in patient management or genetic counseling. For some cases Blueprint Genetics offers a special free of charge service to investigate the role of identified VUS.

We constantly follow genetic literature adapting new relevant information and findings to our diagnostics. Relevant novel discoveries can be rapidly translated and adopted into our diagnostics without delay. These processes ensure that our diagnostic panels and clinical statements remain the most up-to-date on the market.

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ICD & CPT codes

CPT codes

SEQ81479
DEL/DUP81479


ICD codes

Commonly used ICD-10 codes when ordering the Ataxia Panel

ICD-10Disease
G11.9Cerebellar ataxia
G11.8Spinocerebellar ataxia

Accepted sample types

  • EDTA blood, min. 1 ml
  • Purified DNA, min. 5μg
  • Saliva (Oragene DNA OG-500 kit)

Label the sample tube with your patient’s name, date of birth and the date of sample collection.

Note that we do not accept DNA samples isolated from formalin-fixed paraffin-embedded (FFPE) tissue.