Frontotemporal Dementia And/or Amyotrophic Lateral Sclerosis 1; Ftdals1

Description

Frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) is an autosomal dominant neurodegenerative disorder characterized by adult onset of one or both of these features in an affected individual, with significant intrafamilial variation. The disorder is genetically and pathologically heterogeneous (summary by Vance et al., 2006). Patients with C9ORF72 repeat expansions tend to show a lower age of onset, shorter survival, bulbar symptom onset, increased incidence of neurodegenerative disease in relatives, and a propensity toward psychosis or hallucinations compared to patients with other forms of ALS and/or FTD (summary by Harms et al., 2013). Patients with C9ORF72 repeat expansions also show psychiatric disturbances that may predate the onset of dementia (Meisler et al., 2013; Gomez-Tortosa et al., 2013).For a general phenotypic description of frontotemporal dementia, also known as frontotemporal lobar degeneration (FTLD), see {600274}. For a general discussion of motor neuron disease (MND), see amyotrophic lateral sclerosis-1 (ALS1 ). Genetic Heterogeneity of Frontotemporal Dementia and/or Amyotrophic Lateral SclerosisSee also FTDALS2 (OMIM ), caused by mutation in the CHCHD10 gene (OMIM ) on chromosome 22q11; FTDALS3 (OMIM ), caused by mutation in the SQSTM1 gene (OMIM ) on chromosome 5q35; and FTDALS4 (OMIM ), caused by mutation in the TBK1 gene (OMIM ) on chromosome 12q14.

Clinical Features

Top most frequent phenotypes and symptoms related to Frontotemporal Dementia And/or Amyotrophic Lateral Sclerosis 1; Ftdals1

  • Pica
  • Ataxia
  • Muscle weakness
  • Milia
  • Cognitive impairment
  • Dysarthria
  • Skeletal muscle atrophy
  • Tremor
  • Dystonia
  • Behavioral abnormality
And another 43 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Frontotemporal Dementia And/or Amyotrophic Lateral Sclerosis 1; Ftdals1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Amyotrophic Lateral Sclerosis Advanced Evaluation.

By Athena Diagnostics Inc in United States.

OPTN, VCP, SQSTM1, SOD1, FIG4, C9orf72, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2
Specificity
30 %
Genes
72 %
Nonprevalent Amyotrophic Lateral Sclerosis Advanced Sequencing Evaluation.

By Athena Diagnostics Inc in United States.

OPTN, VCP, SQSTM1, FIG4, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2
Specificity
27 %
Genes
58 %
Amyotrophic Lateral Sclerosis.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

OPTN, PRPH2, VCP, SOD1, NEFH, FIG4, C9orf72, ATXN2, SPART, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2 , (...)

View the complete list with 1 more genes
Specificity
20 %
Genes
58 %
Dementia.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

APP, PSEN1, OPTN, VCP, GRN, FIG4, PSEN2, MAPT, APOE, C9orf72, ALS2, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, CSF1R, TREM2, PRNP , (...)

View the complete list with 1 more genes
Specificity
20 %
Genes
58 %
Familial Amyotrophic Lateral Sclerosis 10.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

TARDBP
Specificity
100 %
Genes
15 %
TAR DNA binding protein TARDBP (TDP-43) gene sequencing test.

By Neurogenetics Department Cyprus Institute of Neurology and Genetics in Cyprus.

TARDBP
Specificity
100 %
Genes
15 %
TDP43. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

TARDBP
Specificity
100 %
Genes
15 %
TARDBP. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

TARDBP
Specificity
100 %
Genes
15 %
SOD1, FUS, TARDBP, ANG, C9orf72. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SOD1, C9orf72, FUS, TARDBP, ANG
Specificity
60 %
Genes
43 %
TARDBP. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

TARDBP
Specificity
100 %
Genes
15 %
Amyotrophic lateral sclerosis 10 (sequence analysis of TARDBP gene).

By CGC Genetics in Portugal.

TARDBP
Specificity
100 %
Genes
15 %
Frontotemporal dementia (NGS panel for 13 genes).

By CGC Genetics in Portugal.

PSEN1, VCP, GRN, MAPT, FUS, CHMP2B, TARDBP, UBQLN2, CSF1R, CHCHD10, HNRNPA2B1, HNRNPA1, TUBA4A
Specificity
31 %
Genes
58 %
Hereditary dementias (NGS panel for 28 genes).

By CGC Genetics in Portugal.

TYROBP, APP, PSEN1, VCP, GRN, TIMM8A, SNCB, PSEN2, MAPT, APOE, NOTCH3, SNCA, FUS, CHMP2B, TARDBP, UBQLN2, ATP13A2, DNMT1, CSF1R, TREM2 , (...)

View the complete list with 8 more genes
Specificity
15 %
Genes
58 %
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PSEN1, OPTN, VCP, GRN, SQSTM1, SOD1, PSEN2, MAPT, C9orf72, KIF5A, FUS, SETX, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, TBK1, TREM2 , (...)

View the complete list with 5 more genes
Specificity
24 %
Genes
86 %
Classic Amyotrophic Lateral Sclerosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SOD1, C9orf72, FUS, TARDBP
Specificity
75 %
Genes
43 %
Amyotrophic Lateral Sclerosis/Motor Neuron Disease via TARDBP Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TARDBP
Specificity
100 %
Genes
15 %
Dementia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TYROBP, APP, PSEN1, GRN, SQSTM1, PSEN2, MAPT, C9orf72, FUS, CHMP2B, TARDBP, UBQLN2, TREM2
Specificity
31 %
Genes
58 %
Amyotrophic lateral sclerosis and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

OPTN, VCP, SQSTM1, SOD1, FIG4, SPG11, MATR3, ALS2, SIGMAR1, FUS, SETX, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, TBK1, CHCHD10, HNRNPA2B1 , (...)

View the complete list with 4 more genes
Specificity
25 %
Genes
86 %
Amyotrophic lateral sclerosis and related disorders Deletion/ Duplication panel.

By Connective Tissue Gene Tests in United States.

OPTN, VCP, SQSTM1, SOD1, FIG4, SPG11, MATR3, ALS2, SIGMAR1, FUS, SETX, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, TBK1, CHCHD10, HNRNPA2B1 , (...)

View the complete list with 4 more genes
Specificity
25 %
Genes
86 %
Amyotrophic lateral sclerosis and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

OPTN, VCP, SQSTM1, SOD1, FIG4, SPG11, MATR3, ALS2, SIGMAR1, FUS, SETX, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, TBK1, CHCHD10, HNRNPA2B1 , (...)

View the complete list with 4 more genes
Specificity
25 %
Genes
86 %
TARDBP-related amyotrophic lateral sclerosis.

By Institute of Human Genetics Cologne University in Germany.

TARDBP
Specificity
100 %
Genes
15 %
Neuropathy.

By MGZ Medical Genetics Center in Germany.

TTR, ABHD12, ATP7A, C12orf65, GAA, FBLN5, OPTN, AMACR, POLG, GARS, MFN2, HADHA, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, SQSTM1 , (...)

View the complete list with 102 more genes
Specificity
5 %
Genes
72 %
TARDBP-Related Amyotrophic Lateral Sclerosis.

By MGZ Medical Genetics Center in Germany.

TARDBP
Specificity
100 %
Genes
15 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
72 %
Amyotrophic Lateral Sclerosis (ALS) and Phenocopies.

By MGZ Medical Genetics Center in Germany.

OPTN, VCP, REEP1, SQSTM1, HEXA, GBE1, SOD1, FIG4, SPG11, MATR3, BSCL2, ALS2, FUS, SETX, DCTN1, TARDBP, ANG, VAPB, UBQLN2, BICD2 , (...)

View the complete list with 3 more genes
Specificity
22 %
Genes
72 %
ALS Sequencing Panel.

By FirmaLab in United States.

SOD1, TARDBP, ANG, VAPB
Specificity
25 %
Genes
15 %
TARDP.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

TARDBP
Specificity
100 %
Genes
15 %
FTD - ALS panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

VCP, SMPD1, GRN, SOD1, NPC1, NPC2, FIG4, MAPT, ALS2, FUS, SETX, CHMP2B, TARDBP, ANG, VAPB
Specificity
20 %
Genes
43 %
Amyotrophic lateral sclerosis type 10.

By Centogene AG - the Rare Disease Company in Germany.

TARDBP
Specificity
100 %
Genes
15 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
72 %
ALS panel.

By Centogene AG - the Rare Disease Company in Germany.

OPTN, PRPH2, VCP, SOD1, NEFH, FIG4, C9orf72, ATXN2, SPART, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2 , (...)

View the complete list with 2 more genes
Specificity
19 %
Genes
58 %
Dementia, frontotemporal.

By Centogene AG - the Rare Disease Company in Germany.

TARDBP
Specificity
100 %
Genes
15 %
Amyotrophic Lateral Sclerosis NGS Panel + C9orf72 Repeat Expansion.

By MNG Laboratories (Medical Neurogenetics, LLC.) in United States.

PSEN1, OPTN, VCP, PARK7, SQSTM1, SOD1, FIG4, SPG11, MAPT, C9orf72, MATR3, ALS2, SIGMAR1, FUS, SETX, TARDBP, ANG, VAPB, PFN1, UBQLN2 , (...)

View the complete list with 2 more genes
Specificity
23 %
Genes
72 %
Amyotrophic Lateral Sclerosis NGS Panel.

By MNG Laboratories (Medical Neurogenetics, LLC.) in United States.

PSEN1, OPTN, VCP, PARK7, SQSTM1, SOD1, FIG4, SPG11, MAPT, MATR3, ALS2, SIGMAR1, FUS, SETX, TARDBP, ANG, VAPB, PFN1, UBQLN2, HNRNPA1 , (...)

View the complete list with 1 more genes
Specificity
20 %
Genes
58 %
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel.

By CeGaT GmbH in Germany.

MTHFR, ABHD12, ARG1, ATP7A, AUH, C12orf65, PSEN1, OPTN, OPA1, GLB1, ELOVL4, HSPD1, GARS, AFG3L2, PANK2, OPA3, VCP, ALDH18A1, MTPAP, SPR , (...)

View the complete list with 123 more genes
Specificity
3 %
Genes
58 %
Amyotrophic Lateral Sclerosis (ALS) Panel.

By CeGaT GmbH in Germany.

HFE, OPTN, VCP, GRN, PARK7, SQSTM1, SOD1, NEFH, ATXN1, FIG4, SPG11, MAPT, C9orf72, ATXN2, MATR3, SPART, ALS2, SIGMAR1, FUS, SETX , (...)

View the complete list with 34 more genes
Specificity
13 %
Genes
100 %
Frontotemporal Dementia (FTD) Panel.

By CeGaT GmbH in Germany.

PSEN1, OPTN, VCP, GRN, SQSTM1, PSEN2, MAPT, C9orf72, NOTCH3, ATXN2, MATR3, SIGMAR1, FUS, DCTN1, CHMP2B, TARDBP, UBQLN2, TBK1, CSF1R, TREM2 , (...)

View the complete list with 8 more genes
Specificity
25 %
Genes
100 %
Dementia all Panel.

By CeGaT GmbH in Germany.

APP, PSEN1, OPTN, VCP, GRN, SQSTM1, PSEN2, MAPT, APOE, C9orf72, NOTCH3, ATXN2, TBP, MATR3, SIGMAR1, FUS, DCTN1, CHMP2B, TARDBP, UBQLN2 , (...)

View the complete list with 16 more genes
Specificity
20 %
Genes
100 %
TARDBP - Gene sequencing.

By Clinical Genetics Academic Medical Center in Netherlands.

TARDBP
Specificity
100 %
Genes
15 %
Amyotrophic lateral sclerosis.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

OPTN, GRN, SQSTM1, SOD1, NEFH, FIG4, C9orf72, MATR3, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, TBK1, CHCHD10 , (...)

View the complete list with 4 more genes
Specificity
25 %
Genes
86 %
Frontotemporal Dementia.

By Asper Biogene Asper Biogene LLC in Estonia.

GRN, MAPT, CHMP2B, TARDBP
Specificity
25 %
Genes
15 %
Amyotrophic Lateral Sclerosis.

By Asper Biogene Asper Biogene LLC in Estonia.

OPTN, VCP, SQSTM1, SOD1, FIG4, SPG11, MATR3, SPART, ALS2, SIGMAR1, FUS, SETX, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, TBK1, CHCHD10 , (...)

View the complete list with 2 more genes
Specificity
28 %
Genes
86 %
Test for TARDBP-Related Frontotemporal Dementia.

By Secugen SL in Spain.

TARDBP
Specificity
100 %
Genes
15 %
Amyotrophic lateral sclerosis 10.

By Praxis fuer Humangenetik Wien in Austria.

TARDBP
Specificity
100 %
Genes
15 %
Frontotemporal lobar degeneration.

By Praxis fuer Humangenetik Wien in Austria.

TARDBP
Specificity
100 %
Genes
15 %
Amyotrophic lateral sclerosis 10.

By MedGene in Slovakia.

TARDBP
Specificity
100 %
Genes
15 %
Frontotemporal lobar degeneration.

By MedGene in Slovakia.

TARDBP
Specificity
100 %
Genes
15 %
Invitae Amyotrophic Lateral Sclerosis Panel.

By Invitae in United States.

OPTN, SOD1, SPG11, ALS2, FUS, DCTN1, TARDBP, VAPB, PFN1, UBQLN2, TFG, TBK1, CHCHD10
Specificity
31 %
Genes
58 %
Invitae Combined Hereditary Dementia and Amyotrophic Lateral Sclerosis Panel.

By Invitae in United States.

APP, PSEN1, OPTN, VCP, GRN, SOD1, SPG11, PSEN2, MAPT, SNCA, ALS2, FUS, DCTN1, TARDBP, VAPB, PFN1, UBQLN2, TFG, TBK1, PRNP , (...)

View the complete list with 1 more genes
Specificity
24 %
Genes
72 %
Invitae Frontotemporal Dementia Panel.

By Invitae in United States.

VCP, GRN, MAPT, FUS, DCTN1, TARDBP, UBQLN2, TBK1, CHCHD10
Specificity
56 %
Genes
72 %
Amyotrophic lateral sclerosis :TARDBP (TDP43) gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TARDBP
Specificity
100 %
Genes
15 %
Frontotemporal dementia:TARDBP (TDP43) gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TARDBP
Specificity
100 %
Genes
15 %
AMYOTROPHIC LATERAL SCLEROSIS A.D. & A.R..

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

OPTN, VCP, SOD1, FIG4, SPART, ALS2, FUS, SETX, TARDBP, ANG, VAPB
Specificity
28 %
Genes
43 %
Frontotemporal dementia.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

VCP, GRN, MAPT, SIGMAR1, FUS, CHMP2B, TARDBP, UBQLN2
Specificity
38 %
Genes
43 %
NGS panel - dementia.

By Genome Diagnostics VU University Medical Center in Netherlands.

TYROBP, APP, PSEN1, OPTN, VCP, GRN, SQSTM1, SNCB, SOD1, NEFH, FIG4, PSEN2, MAPT, NOTCH3, SNCA, ALS2, SIGMAR1, FUS, SETX, CHMP2B , (...)

View the complete list with 21 more genes
Specificity
10 %
Genes
58 %
Amyotrophic Lateral Sclerosis NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ABHD12, OPTN, VCP, ACAD8, ABCD1, SOD1, FIG4, C9orf72, ATXN2, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2 , (...)

View the complete list with 4 more genes
Specificity
17 %
Genes
58 %
TARDBP.

By Fulgent Genetics Fulgent Genetics in United States.

TARDBP
Specificity
100 %
Genes
15 %
Dementia Panel.

By Blueprint Genetics in Finland.

UBE3A, APP, PSEN1, VCP, GRN, PSEN2, MAPT, APOE, SNCA, SIGMAR1, FUS, CHMP2B, TARDBP, UBQLN2, CSF1R, TREM2, PRNP, SORL1, RNF216, TUBA4A , (...)

View the complete list with 1 more genes
Specificity
15 %
Genes
43 %
Amyotrophic Lateral Sclerosis Panel.

By Blueprint Genetics in Finland.

OPTN, HSPD1, VCP, REEP1, GRN, SQSTM1, HEXA, GBE1, SOD1, PRF1, FIG4, ATL1, SPG11, SPAST, KIF5A, BSCL2, WASHC5, SPART, ALS2, FUS , (...)

View the complete list with 12 more genes
Specificity
16 %
Genes
72 %
Amyotrophic lateral sclerosis.

By Bioarray in Spain.

TARDBP
Specificity
100 %
Genes
15 %
Amyotrophic Lateral Sclerosis (TARDBP gene).

By Diagnostic Service Facility University of Antwerp in Belgium.

TARDBP
Specificity
100 %
Genes
15 %
AMYOTROPHIC LATERAL SCLEROSIS (ALS) (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

VCP, SQSTM1, SOD1, NEFH, FIG4, C9orf72, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, CHCHD10, PRPH
Specificity
38 %
Genes
86 %
AMYOTROPHIC LATERAL SCLEROSIS: ALS NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

OPTN, VCP, SQSTM1, SOD1, NEFH, FIG4, SPG11, MATR3, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, CHCHD10 , (...)

View the complete list with 3 more genes
Specificity
22 %
Genes
72 %
DEMENTIA & ALZHEIMER: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

APP, PSEN1, VCP, GRN, PSEN2, MAPT, APOE, FUS, CHMP2B, TARDBP, CSF1R, TREM2, PRNP, ITM2B
Specificity
22 %
Genes
43 %
Amyotrophic Lateral Sclerosis , Sequencing TARDBP Gene.

By Reference Laboratory Genetics in Spain.

TARDBP
Specificity
100 %
Genes
15 %
Frontotemporal Dementia , Sequencing TARDBP Gene.

By Reference Laboratory Genetics in Spain.

TARDBP
Specificity
100 %
Genes
15 %
Amyotrophic Lateral Sclerosis , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

OPTN, VCP, SOD1, FIG4, SPG11, SPART, ALS2, FUS, SETX, TARDBP, ANG, VAPB
Specificity
25 %
Genes
43 %
Frontotemporal Dementia , Panel Massive Sequencing (NGS) 8 Genes.

By Reference Laboratory Genetics in Spain.

VCP, GRN, MAPT, SIGMAR1, FUS, CHMP2B, TARDBP, UBQLN2
Specificity
38 %
Genes
43 %
TARDBP-Related Amyotrophic Lateral Sclerosis: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

TARDBP
Specificity
100 %
Genes
15 %
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
29 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

TRIM32, PANK2, SQSTM1, PLA2G6, KIF1A, FA2H, ATP13A2, WDR45, FUCA1, C19orf12, FTL, CP, COASY, DCAF17
Specificity
8 %
Genes
15 %
Movement Disorders Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

PTEN, ATP7B, AUH, PSEN1, HPRT1, TRIM32, POLG, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PARK7, PINK1, SQSTM1, TIMM8A, MMADHC, SUOX , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
15 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

TRIM32, PANK2, SQSTM1, PLA2G6, KIF1A, FA2H, ATP13A2, WDR45, FUCA1, C19orf12, FTL, CP, COASY, DCAF17
Specificity
8 %
Genes
15 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

TRIM32, PANK2, SQSTM1, PLA2G6, KIF1A, FA2H, ATP13A2, WDR45, FUCA1, C19orf12, FTL, CP, COASY, DCAF17
Specificity
8 %
Genes
15 %
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

AARS2, UQCRQ, ATP7B, AUH, BCS1L, PSEN1, GLB1, HPRT1, POLG, NDUFS4, AFG3L2, FOXRED1, NDUFAF2, PANK2, MECP2, NDUFA12, NDUFA9, TTC19, NDUFA10, SCP2 , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
15 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
29 %
Paget Disease of Bone (sequence analysis of SQSTM1 gene).

By CGC Genetics in Portugal.

SQSTM1
Specificity
100 %
Genes
15 %
Paget Disease of Bone (PDB) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TNFRSF11A, SQSTM1
Specificity
50 %
Genes
15 %
Distal Hereditary Myopathy Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

GNE, CRYAB, VCP, SQSTM1, CAV3, DYSF, TTN, KLHL9, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, DNAJB6, TCAP
Specificity
10 %
Genes
29 %
Paget Disease of Bone via the SQSTM1 Gene.

By PreventionGenetics PreventionGenetics in United States.

SQSTM1
Specificity
100 %
Genes
15 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
15 %
Comprehensive Neuromuscular Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

AGL, GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, ISCU, CHAT, PFKM, PYGM, GBE1, DPAGT1, DMD, CHRNE , (...)

View the complete list with 104 more genes
Specificity
2 %
Genes
29 %
Distal Myopathy NGS panel.

By Connective Tissue Gene Tests in United States.

GNE, CRYAB, VCP, SQSTM1, DNM2, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, DNAJB6, TCAP
Specificity
10 %
Genes
29 %
Distal Myopathy Comprehensive panel.

By Connective Tissue Gene Tests in United States.

GNE, CRYAB, VCP, SQSTM1, DNM2, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, DNAJB6, TCAP
Specificity
10 %
Genes
29 %
Distal Myopathy Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

GNE, CRYAB, VCP, SQSTM1, DNM2, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, DNAJB6, TCAP
Specificity
10 %
Genes
29 %
Paget disease of bone and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

TNFRSF11A, VCP, SQSTM1, TNFRSF11B, HNRNPA2B1, HNRNPA1, ZNF687
Specificity
29 %
Genes
29 %
Paget disease of bone and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

TNFRSF11A, VCP, SQSTM1, TNFRSF11B, HNRNPA2B1, HNRNPA1, ZNF687
Specificity
29 %
Genes
29 %
Paget disease of bone and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

TNFRSF11A, VCP, SQSTM1, TNFRSF11B, HNRNPA2B1, HNRNPA1, ZNF687
Specificity
29 %
Genes
29 %
Paget disease of bone.

By Centogene AG - the Rare Disease Company in Germany.

SQSTM1
Specificity
100 %
Genes
15 %
Congenital Myopathy and Distal Myopathy NGS panel.

By Asper Biogene Asper Biogene LLC in Estonia.

GNE, CRYAB, VCP, SQSTM1, NEB, DNM2, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, SELENON , (...)

View the complete list with 21 more genes
Specificity
5 %
Genes
29 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing.

By NBIA Testing Center Oregon Health & Science University in United States.

TRIM32, PANK2, SCP2, SQSTM1, PLA2G6, KIF1A, FA2H, ATP13A2, WDR45, VPS13A, FUCA1, C19orf12, FTL, CP, COASY, DCAF17, KMT2B, MECR, SLC39A14
Specificity
6 %
Genes
15 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication.

By NBIA Testing Center Oregon Health & Science University in United States.

TRIM32, PANK2, SCP2, SQSTM1, PLA2G6, KIF1A, FA2H, ATP13A2, WDR45, VPS13A, FUCA1, C19orf12, FTL, CP, COASY, DCAF17, KMT2B, MECR, SLC39A14
Specificity
6 %
Genes
15 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication.

By NBIA Testing Center Oregon Health & Science University in United States.

TRIM32, PANK2, SQSTM1, PLA2G6, KIF1A, FA2H, ATP13A2, WDR45, VPS13A, FUCA1, C19orf12, FTL, CP, COASY, DCAF17, SLC39A14
Specificity
7 %
Genes
15 %
Invitae Comprehensive Neuromuscular Disorders Panel.

By Invitae in United States.

GAA, CPT2, GNE, TRIM32, CRYAB, VCP, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, TAZ, CHAT, DPAGT1, DMD, SMN1, CHRNE, DOK7, FKTN, NEB , (...)

View the complete list with 84 more genes
Specificity
2 %
Genes
29 %
Invitae Distal Myopathy Panel.

By Invitae in United States.

GNE, CRYAB, VCP, SQSTM1, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, DNAJB6
Specificity
12 %
Genes
29 %
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel.

By Invitae in United States.

TTR, AGL, GAA, EYA4, CPT2, GNE, TRIM32, DSP, CRYAB, RAF1, VCP, DPM3, PNPLA2, DPM1, SQSTM1, TAZ, SLC22A5, DOLK, DMD, GLA , (...)

View the complete list with 93 more genes
Specificity
2 %
Genes
29 %
Invitae Comprehensive Myopathy Panel.

By Invitae in United States.

CPT2, GNE, CRYAB, VCP, SQSTM1, NEB, DNM2, LMNA, CAV3, DYSF, SCN4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3 , (...)

View the complete list with 30 more genes
Specificity
4 %
Genes
29 %
Invitae Neurodegeneration with Brain Iron Accumulation Panel.

By Invitae in United States.

PANK2, SQSTM1, PLA2G6, ATP13A2, WDR45, FUCA1, C19orf12, FTL, CP, COASY, DCAF17
Specificity
10 %
Genes
15 %
Paget Disease of Bone NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TNFRSF11A, SQSTM1
Specificity
50 %
Genes
15 %
SQSTM1.

By Fulgent Genetics Fulgent Genetics in United States.

SQSTM1
Specificity
100 %
Genes
15 %
PAGET-Complete.

By PentaCoreLab in Hungary.

OPTN, TNFRSF11A, VCP, SQSTM1, TNFSF11, TNFRSF11B, DCSTAMP, CSF1
Specificity
25 %
Genes
29 %
PAGET DISEASE OF BONE.

By Laboratorio de Genetica Clinica SL in Spain.

SQSTM1
Specificity
100 %
Genes
15 %
Paget Disease of Bone , Sequencing SQSTM1 Gene.

By Reference Laboratory Genetics in Spain.

SQSTM1
Specificity
100 %
Genes
15 %
Paget Disease of Bone , Panel Massive Sequencing (NGS) SQSTM1, TNFRSF11A, TNFRSF11B Genes.

By Reference Laboratory Genetics in Spain.

TNFRSF11A, SQSTM1, TNFRSF11B
Specificity
34 %
Genes
15 %
Osteolysis and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

TYROBP, TNFRSF11A, SQSTM1, TREM2, MMP2, BANF1
Specificity
17 %
Genes
15 %
Fused in sarcoma (FUS) gene sequencing test.

By Neurogenetics Department Cyprus Institute of Neurology and Genetics in Cyprus.

FUS
Specificity
100 %
Genes
15 %
FUS. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

FUS
Specificity
100 %
Genes
15 %
Tremor essential type 4 (sequence analysis of FUS gene).

By CGC Genetics in Portugal.

FUS
Specificity
100 %
Genes
15 %
Amyotrophic Lateral Sclerosis / Motor Neuron Disease via the FUS Gene.

By PreventionGenetics PreventionGenetics in United States.

FUS
Specificity
100 %
Genes
15 %
FUS-related amyotrophic lateral sclerosis.

By Institute of Human Genetics Cologne University in Germany.

FUS
Specificity
100 %
Genes
15 %
FUS-Related Amyotrophic Lateral Sclerosis.

By MGZ Medical Genetics Center in Germany.

FUS
Specificity
100 %
Genes
15 %
FUS.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

FUS
Specificity
100 %
Genes
15 %
Tremor essential type 4.

By Centogene AG - the Rare Disease Company in Germany.

FUS
Specificity
100 %
Genes
15 %
Amyotrophic lateral sclerosis type 6.

By Centogene AG - the Rare Disease Company in Germany.

FUS
Specificity
100 %
Genes
15 %
Parkinsons disease panel.

By Centogene AG - the Rare Disease Company in Germany.

SPR, HTRA2, PARK7, PINK1, PRKN, SNCB, GBA, TH, PLA2G6, MAPT, GCH1, LRRK2, SNCA, FUS, DCTN1, ATP1A3, SYNJ1, ATP13A2, ATP6AP2, TAF1 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
15 %
Single gene testing FUS.

By CeGaT GmbH in Germany.

FUS
Specificity
100 %
Genes
15 %
FUS - Gene sequencing.

By Clinical Genetics Academic Medical Center in Netherlands.

FUS
Specificity
100 %
Genes
15 %
Test for FUS-Related Amyotrophic Lateral Sclerosis.

By Secugen SL in Spain.

FUS
Specificity
100 %
Genes
15 %
Amyotrophic lateral sclerosis 06.

By Praxis fuer Humangenetik Wien in Austria.

FUS
Specificity
100 %
Genes
15 %
Tremor, hereditary essential, 4.

By Praxis fuer Humangenetik Wien in Austria.

FUS
Specificity
100 %
Genes
15 %
Amyotrophic lateral sclerosis 06.

By MedGene in Slovakia.

FUS
Specificity
100 %
Genes
15 %
Tremor, hereditary essential, 4.

By MedGene in Slovakia.

FUS
Specificity
100 %
Genes
15 %
FUS.

By Fulgent Genetics Fulgent Genetics in United States.

FUS
Specificity
100 %
Genes
15 %
Onco microarray for MDS/AML.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

RUNX1, TP53, WT1, IDH2, KRAS, NRAS, PTPN11, CBL, ALK, GATA2, NF1, FUS, GATA1, DNMT3A, EZH2, TFG, TERT, KMT2A, KIT, ASXL1 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
15 %
Hemato-oncology chromosomal microarray.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

BRCA1, BRCA2, APC, MSH2, MLH1, TP53, COL1A1, RB1, BLM, BRAF, HRAS, ALK, PTCH1, PHOX2B, SUFU, CDH1, FUS, SETD2, KDM5C, PAX3 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
15 %
Amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia.

By Bioarray in Spain.

FUS
Specificity
100 %
Genes
15 %
Amyotrophic Lateral Sclerosis (FUS gene).

By Diagnostic Service Facility University of Antwerp in Belgium.

FUS
Specificity
100 %
Genes
15 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
15 %
Amyotrophic Lateral Sclerosis , Sequencing FUS (TLS-ALS6) Gene.

By Reference Laboratory Genetics in Spain.

FUS
Specificity
100 %
Genes
15 %
Hereditary Essential Tremor, Panel Massive Sequencing (NGS) DRD3, TENM4, FUS Genes.

By Reference Laboratory Genetics in Spain.

FUS, DRD3, TENM4
Specificity
34 %
Genes
15 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
15 %
Optic Atrophy and Early Glaucoma Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

AUH, BEST1, C12orf65, PAX6, PITX3, OPTN, OPA1, WFS1, FOXC1, PITX2, MFRP, CYP1B1, POLG, OPA3, ACO2, MTPAP, TMEM126A, SPG7, CISD2, NDUFS1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
15 %
TBK1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

TBK1
Specificity
100 %
Genes
15 %
TBK1 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

TBK1
Specificity
100 %
Genes
15 %
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia via TBK1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TBK1
Specificity
100 %
Genes
15 %
Single gene testing TBK1.

By CeGaT GmbH in Germany.

TBK1
Specificity
100 %
Genes
15 %
Defects in innate immunity Panel.

By CeGaT GmbH in Germany.

STAT1, TLR3, TBK1, APOL1, MYD88, CXCR4, IRAK4, NFKBIA, IL17F, CARD9, UNC93B1, TRAF3, TICAM1, TMC6, TMC8, MCM4, TRAF3IP2, IL17RA, TIRAP
Specificity
6 %
Genes
15 %
Invitae Primary Immunodeficiency Panel.

By Invitae in United States.

PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
15 %
Invitae Herpes Simplex Encephalitis Panel.

By Invitae in United States.

TLR3, TBK1, UNC93B1, TRAF3, TICAM1
Specificity
20 %
Genes
15 %
TBK1.

By Fulgent Genetics Fulgent Genetics in United States.

TBK1
Specificity
100 %
Genes
15 %
Glaucoma Panel.

By Blueprint Genetics in Finland.

PAX6, OPTN, OPA1, FOXC1, PITX2, CYP1B1, OPA3, TMEM126A, LMX1B, MYOC, COL4A1, CNTNAP2, TBK1, MAF, FOXE3, LTBP2, TEK, WDR36
Specificity
6 %
Genes
15 %
Frontotemporal dementia with motor neuron disease (sequence analysis of CHCHD10 gene).

By CGC Genetics in Portugal.

CHCHD10
Specificity
100 %
Genes
15 %
Spinal muscular atrophy (NGS panel for 21 genes).

By CGC Genetics in Portugal.

ATP7A, GARS, REEP1, SCO2, TRPV4, HSPB8, UBA1, BSCL2, DCTN1, VAPB, BICD2, DYNC1H1, VRK1, IGHMBP2, ASAH1, PLEKHG5, DNAJB2, SLC5A7, CHCHD10, EXOSC8 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
15 %
CHCHD10.

By MGZ Medical Genetics Center in Germany.

CHCHD10
Specificity
100 %
Genes
15 %
Comprehensive mtDNA Depletion Syndromes NGS Panel.

By MNG Laboratories (Medical Neurogenetics, LLC.) in United States.

TWNK, OPA1, POLG, SLC25A4, AFG3L2, RRM2B, DGUOK, SUCLA2, POLG2, TK2, TYMP, MPV17, SUCLG1, MGME1, FBXL4, CHCHD10
Specificity
7 %
Genes
15 %
Congenital and Distal Myopathies Panel.

By CeGaT GmbH in Germany.

YARS2, TWNK, OPA1, GNE, TRIM32, POLG, RRM2B, CRYAB, VCP, SUCLA2, POLG2, TK2, PUS1, ISCU, NEB, DNM2, PABPN1, CAV3, DYSF, TTN , (...)

View the complete list with 53 more genes
Specificity
3 %
Genes
29 %
Spinal Muscular Atrophy Panel.

By CeGaT GmbH in Germany.

ATP7A, GARS, REEP1, SCO2, HEXA, TRPV4, HSPB8, HSPB1, UBA1, BSCL2, DCTN1, VAPB, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, ASAH1, LAS1L, EXOSC3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
15 %
Nuclear encoded Mitochondriopathies Panel.

By CeGaT GmbH in Germany.

MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
15 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH in Germany.

FMR1, AARS2, ABHD12, UQCRQ, BTD, ATP7B, AUH, TWNK, PRKCG, PAX6, INPP5E, AMACR, OPA1, WFS1, GLB1, CC2D2A, ELOVL4, TMEM67, NPHP1, CEP290 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
15 %
Spinal Muscular Atrophy (SMA) Panel.

By CeGaT GmbH in Germany.

ATP7A, GARS, REEP1, SCO2, HEXA, TRPV4, HSPB8, HSPB1, UBA1, BSCL2, DCTN1, VAPB, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, ASAH1, LAS1L, EXOSC3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
15 %
Single gene testing CHCHD10.

By CeGaT GmbH in Germany.

CHCHD10
Specificity
100 %
Genes
15 %
Invitae Comprehensive Neuropathies Panel.

By Invitae in United States.

TTR, ATP7A, GARS, MFN2, HARS, SPTLC2, REEP1, AIFM1, ELP1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22 , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
15 %
Invitae Hereditary Motor Neuropathy Panel.

By Invitae in United States.

ATP7A, GARS, REEP1, SMN1, TRPV4, HSPB8, HSPB1, SMN2, UBA1, BSCL2, SIGMAR1, DCTN1, VAPB, BICD2, DYNC1H1, IGHMBP2, PLEKHG5, DNAJB2, HINT1, SLC5A7 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
15 %
Charcot-Marie-Tooth Neuropathy Panel.

By Blueprint Genetics in Finland.

TTR, ATP7A, C12orf65, FBLN5, AMACR, GNE, POLG, GARS, KIF1B, MFN2, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, AIFM1, SURF1, HK1 , (...)

View the complete list with 78 more genes
Specificity
3 %
Genes
29 %
Spinal Muscular Atrophy Panel.

By Blueprint Genetics in Finland.

ATP7A, GARS, REEP1, SCO2, HEXA, SMN1, TRPV4, HSPB8, HSPB1, SMN2, UBA1, BSCL2, DCTN1, VAPB, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, ASAH1 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
15 %
C9ORF72 (FTD) DNA Test.

By Athena Diagnostics Inc in United States.

C9orf72
Specificity
100 %
Genes
15 %
Frontotemporal Dementia (FTD) Evaluation.

By Athena Diagnostics Inc in United States.

GRN, MAPT, C9orf72
Specificity
34 %
Genes
15 %
C9orf72 DNA Test.

By Athena Diagnostics Inc in United States.

C9orf72
Specificity
100 %
Genes
15 %
Neurodegenerative Disease, C9orf72-Related.

By Center for Human Genetics, Inc in United States.

C9orf72
Specificity
100 %
Genes
15 %
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.

By UCSF Molecular Diagnostics Laboratory University of California, San Francisco in United States.

C9orf72
Specificity
100 %
Genes
15 %
C9orf72 Hexanucleotide Repeat Expansion Analysis.

By Molecular Pathology Laboratory University of Pennsylvania Health System in United States.

C9orf72
Specificity
100 %
Genes
15 %
C9orf72.

By Molecular Diagnostic Laboratory University of Alberta in Canada.

C9orf72
Specificity
100 %
Genes
15 %
Amyotrophic Lateral Sclerosis.

By Molecular Diagnostic Laboratory University of Alberta in Canada.

SOD1, C9orf72
Specificity
50 %
Genes
15 %
C9orf72-Related Amyotrophic Lateral Sclerosis/Frontotemporal Dementia.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

C9orf72
Specificity
100 %
Genes
15 %
C9orf72. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

C9orf72
Specificity
100 %
Genes
15 %
C9orf72. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

C9orf72
Specificity
100 %
Genes
15 %
Frontotemporal dementia (detection of GGGGCC expansion on C9ORF72 gene).

By CGC Genetics in Portugal.

C9orf72
Specificity
100 %
Genes
15 %
Amyotrophic lateral sclerosis (detection of GGGGCC expansion on C9ORF72 gene).

By CGC Genetics in Portugal.

C9orf72
Specificity
100 %
Genes
15 %
C9orf72 Gene Hexanucleotide Repeat Expansion.

By PreventionGenetics PreventionGenetics in United States.

C9orf72
Specificity
100 %
Genes
15 %
C9orf72-Related Amyotrophic Lateral Sclerosis/Frontotemporal Dementia.

By MGZ Medical Genetics Center in Germany.

C9orf72
Specificity
100 %
Genes
15 %
C9orf72.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

C9orf72
Specificity
100 %
Genes
15 %
Amyotrophic lateral sclerosis with frontotemporal dementia.

By Centogene AG - the Rare Disease Company in Germany.

C9orf72
Specificity
100 %
Genes
15 %
C9orf72 Repeat Expansion Testing.

By MNG Laboratories (Medical Neurogenetics, LLC.) in United States.

C9orf72
Specificity
100 %
Genes
15 %
Choreatic Movement Disorders Panel.

By CeGaT GmbH in Germany.

HTT, OPA3, GM2A, ATXN1, ATM, C9orf72, ATXN2, ATXN3, ATXN7, TBP, KCNA1, GNAO1, NKX2-1, JPH3, FTL, PDE10A, PRNP, ADCY5, RNF216, FRRS1L , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
15 %
Atypical Parkinson syndrome Panel.

By CeGaT GmbH in Germany.

FMR1, COMT, POLG, GRN, TH, PLA2G6, ZFYVE26, SPG11, MAPT, C9orf72, ATXN2, ATXN3, GCH1, DCTN1, ATP1A3, SYNJ1, ATP13A2, ATP6AP2, RAB39B, FTL , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
15 %
Single gene testing C9orf72.

By CeGaT GmbH in Germany.

C9orf72
Specificity
100 %
Genes
15 %
FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE; FTD-ALS.

By Secugen SL in Spain.

C9orf72
Specificity
100 %
Genes
15 %
C9orf72-Related Amyotrophic Lateral Sclerosis/Frontotemporal.

By Institute of Human Genetics University Hospital Ulm in Germany.

C9orf72
Specificity
100 %
Genes
15 %
Amyotrophic lateral sclerosis and/or frontotemporal dementia.

By Praxis fuer Humangenetik Wien in Austria.

C9orf72
Specificity
100 %
Genes
15 %
C9orf72.

By Fulgent Genetics Fulgent Genetics in United States.

C9orf72
Specificity
100 %
Genes
15 %
Amyotrophic lateral sclerosis 9.

By Bioarray in Spain.

C9orf72
Specificity
100 %
Genes
15 %
Alzheimer Disease, Panel Massive Sequencing (NGS) 8 Genes.

By Reference Laboratory Genetics in Spain.

APP, PSEN1, GRN, PSEN2, MAPT, APOE, C9orf72, A2M
Specificity
13 %
Genes
15 %
Distal Myopathy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc in United States.

GNE, CRYAB, VCP, NEB, DNM2, CAV3, DYSF, TTN, KLHL9, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3
Specificity
6 %
Genes
15 %
Charcot-Marie-Tooth Hereditary Neuropathy Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

GARS, KIF1B, MFN2, VCP, HARS, KARS, AIFM1, SURF1, NEFH, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
15 %
Neuromuscular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ATP7A, TWNK, GAA, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, CRYAB, VCP, AGK, CAVIN1, DPM3, SUCLA2, PNPLA2, REEP1, POLG2, TK2, DPM1 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
15 %
Comprehensive Neuromuscular Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
15 %
Limb-Girdle Muscular Dystrophy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

GAA, GNE, TRIM32, VCP, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
15 %
VCP sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

VCP
Specificity
100 %
Genes
15 %
VCP Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

VCP
Specificity
100 %
Genes
15 %
Neuromuscular Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

GAA, GNE, TRIM32, CRYAB, VCP, DPM3, DPM1, ALG2, CHAT, PYGM, GBE1, DPAGT1, DMD, HRAS, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
15 %
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia.

By Human Genetics Ruhr University in Germany.

VCP
Specificity
100 %
Genes
15 %
Body myopathy with Paget disease and frontotemporal dementia (sequence analysis of VCP gene).

By CGC Genetics in Portugal.

VCP
Specificity
100 %
Genes
15 %
Amyotrophic lateral sclerosis 14 (sequence analysis of VCP gene).

By CGC Genetics in Portugal.

VCP
Specificity
100 %
Genes
15 %
Body myopathy with Paget disease and frontotemporal dementia (deletion/duplication analysis of VCP gene).

By CGC Genetics in Portugal.

VCP
Specificity
100 %
Genes
15 %
Body myopathy with Paget disease and frontotemporal dementia (deletion/duplication analysis of VCP gene).

By CGC Genetics in Portugal.

VCP
Specificity
100 %
Genes
15 %
Valosin-Containing Protein-Related Disorders via the VCP Gene.

By PreventionGenetics PreventionGenetics in United States.

VCP
Specificity
100 %
Genes
15 %
Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

GAA, TRIM32, VCP, PNPLA2, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, TRAPPC11, DNAJB6 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
15 %
Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

C12orf65, VCP, ALDH18A1, REEP1, SPG7, GAD1, ABCD1, GJC2, PLP1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, BSCL2, WASHC5, PNPLA6 , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
15 %
Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

C12orf65, HSPD1, VCP, ALDH18A1, REEP1, SPG7, GAD1, ABCD1, FARS2, GJC2, PLP1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
15 %
Histological Myofibrillar Myopathy.

By MGZ Medical Genetics Center in Germany.

GNE, CRYAB, VCP, LMNA, TTN, DES, FLNC, MYOT, LDB3, BAG3, FHL1, PLEC
Specificity
9 %
Genes
15 %
Heart Diseases - panels.

By MGZ Medical Genetics Center in Germany.

TTR, AARS2, ACAD9, ACADM, ACADS, AGL, ACADVL, GAA, ELN, CPT2, GNE, JAG1, DSP, CRYAB, RAF1, VCP, FBN1, MTO1, AGK, TMEM70 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
15 %
Muscle Disease with Distal Myopathy.

By MGZ Medical Genetics Center in Germany.

AGL, GNE, CRYAB, VCP, PNPLA2, CHRNE, CAPN3, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
15 %
Muscle Weakness (Myopathy, Muscular Dystrophy).

By MGZ Medical Genetics Center in Germany.

TTR, ACAD9, ACADM, ACADS, AGL, ACADVL, TWNK, GAA, TUBB3, AMACR, CPT2, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, MFN2, CRYAB, HADHA , (...)

View the complete list with 159 more genes
Specificity
1 %
Genes
15 %
Muscle Disease with FSHD Phenocopies.

By MGZ Medical Genetics Center in Germany.

VCP, SGCA, CAPN3, FHL1, SMCHD1
Specificity
20 %
Genes
15 %
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR).

By MGZ Medical Genetics Center in Germany.

ACADM, AGL, ACADVL, GAA, CPT2, GNE, TRIM32, POLG, RRM2B, CRYAB, HADHA, VCP, PNPLA2, TK2, HADHB, PUS1, ABHD5, LPIN1, ISCU, PYGM , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
15 %
VCP.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

VCP
Specificity
100 %
Genes
15 %
Amyotrophic lateral sclerosis type 14.

By Centogene AG - the Rare Disease Company in Germany.

VCP
Specificity
100 %
Genes
15 %
Single gene testing VCP.

By CeGaT GmbH in Germany.

VCP
Specificity
100 %
Genes
15 %
VCP - Gene sequencing.

By Clinical Genetics Academic Medical Center in Netherlands.

VCP
Specificity
100 %
Genes
15 %
Charcot-Marie-Tooth Disease.

By Asper Biogene Asper Biogene LLC in Estonia.

C12orf65, POLG, GARS, KIF1B, MFN2, VCP, HARS, KARS, SPTLC2, REEP1, TYMP, AIFM1, SURF1, NAGLU, HK1, ARSA, NDRG1, SBF2, PRX, FIG4 , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
15 %
Test for VCP-Related Frontotemporal Dementia.

By Secugen SL in Spain.

VCP
Specificity
100 %
Genes
15 %
Amyotrophic lateral sclerosis 14.

By Praxis fuer Humangenetik Wien in Austria.

VCP
Specificity
100 %
Genes
15 %
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia.

By Praxis fuer Humangenetik Wien in Austria.

VCP
Specificity
100 %
Genes
15 %
Amyotrophic lateral sclerosis 14.

By MedGene in Slovakia.

VCP
Specificity
100 %
Genes
15 %
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia.

By MedGene in Slovakia.

VCP
Specificity
100 %
Genes
15 %
Invitae Inclusion Body Myopathy Panel.

By Invitae in United States.

GNE, VCP, TTN, MYH2
Specificity
25 %
Genes
15 %
Limb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GAA, GNE, TRIM32, VCP, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
15 %
Distal Hereditary Myopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

GNE, CRYAB, VCP, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, LDB3, MATR3, FHL1, TCAP
Specificity
8 %
Genes
15 %
VCP.

By Fulgent Genetics Fulgent Genetics in United States.

VCP
Specificity
100 %
Genes
15 %
Cardiomyopathy Panel.

By Blueprint Genetics in Finland.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1 , (...)

View the complete list with 135 more genes
Specificity
1 %
Genes
15 %
Comprehensive Cardiology Panel.

By Blueprint Genetics in Finland.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1 , (...)

View the complete list with 165 more genes
Specificity
1 %
Genes
15 %
Amyotrophic Lateral Sclerosis (VCP gene).

By Diagnostic Service Facility University of Antwerp in Belgium.

VCP
Specificity
100 %
Genes
15 %
INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA.

By Laboratorio de Genetica Clinica SL in Spain.

VCP
Specificity
100 %
Genes
15 %
Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia , Sequencing VCPGene.

By Reference Laboratory Genetics in Spain.

VCP
Specificity
100 %
Genes
15 %
Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes.

By Reference Laboratory Genetics in Spain.

ATP7A, OCRL, GARS, KIF1B, MFN2, VCP, KARS, REEP1, ELP1, SMN1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
15 %
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes.

By Reference Laboratory Genetics in Spain.

GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, PHKA1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, PEX2, PEX7 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
15 %
Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

VCP
Specificity
100 %
Genes
15 %

Alternate names

Frontotemporal Dementia And/or Amyotrophic Lateral Sclerosis 1; Ftdals1 Is also known as frontotemporal dementia and/or amyotrophic lateral sclerosis;ftdals, frontotemporal dementia and/or motor neuron disease;ftdmnd, amyotrophic lateral sclerosis and/or frontotemporal dementia;alsftd;ftd-als; ftd-mnd; frontotemporal dementia with amyotrophic lateral sclerosis.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED; SEMDX NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME; NFJS

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more