Ataxia-telangiectasia-like Disorder 1; Atld1

Description

Ataxia-telangiectasia-like disorder-1 is an autosomal recessive disorder characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia. Laboratory studies of patient cells showed increased susceptibility to radiation, consistent with a defect in DNA repair. The disorder shares some phenotypic features of ataxia-telangiectasia (AT ), but telangiectases and immune deficiency are not present in ATLD1 (summary by Hernandez et al., 1993 and Stewart et al., 1999). Genetic Heterogeneity of Ataxia-Telangiectasia-Like DisorderSee also ATLD2 (OMIM ), caused by mutation in the PCNA gene (OMIM ) on chromosome 20p12.

Clinical Features

Top most frequent phenotypes and symptoms related to Ataxia-telangiectasia-like Disorder 1; Atld1

  • Pica
  • Ataxia
  • Nystagmus
  • Neoplasm
  • Peripheral neuropathy
  • Dysarthria
  • Gait disturbance
  • Tremor
  • Cerebellar atrophy
  • Renal insufficiency
And another 24 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Ataxia-telangiectasia-like Disorder 1; Atld1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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
50 %
Oculomotor Apraxia Ataxia Advanced Sequencing Evaluation.

By Athena Diagnostics Inc in United States.

APTX, SETX
Specificity
50 %
Genes
50 %
Ataxia, Supplemental Recessive Evaluation.

By Athena Diagnostics Inc in United States.

POLG, AFG3L2, MTPAP, COQ8A, FLVCR1, APTX, ATM, MRE11, SACS, TTPA, SETX, SYNE1, SYT14, ANO10, TDP1, SIL1, GRM1
Specificity
12 %
Genes
100 %
Ataxia, Complete Recessive Evaluation.

By Athena Diagnostics Inc in United States.

POLG, AFG3L2, MTPAP, COQ8A, FLVCR1, FXN, APTX, ATM, MRE11, SACS, TTPA, SETX, SYNE1, SYT14, ANO10, TDP1, SIL1, GRM1
Specificity
12 %
Genes
100 %
Ataxia, Comprehensive Evaluation.

By Athena Diagnostics Inc in United States.

PRKCG, POLG, AFG3L2, MTPAP, COQ8A, FLVCR1, FXN, APTX, ATXN1, ATM, MRE11, SACS, TTPA, PPP2R2B, ATXN2, ATXN3, ATXN10, ATXN7, CACNA1A, TBP , (...)

View the complete list with 22 more genes
Specificity
5 %
Genes
100 %
Mitochondrial Depletion Panel.

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

TWNK, OPA1, POLG, SLC25A4, RRM2B, MFN2, OPA3, AGK, DGUOK, ABAT, GFER, SUCLA2, POLG2, TK2, SPG7, TYMP, MPV17, SUCLG1, APTX, MGME1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
50 %
Dystonia.

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

PTEN, ATP7B, AUH, PSEN1, HPRT1, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PINK1, TIMM8A, MMADHC, SUOX, PTS, QDPR, MPV17, SDHAF1 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
50 %
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
50 %
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
50 %
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
100 %
ATAXIA-OCULOMOTOR APRAXIA 1; AOA1.

By Human Genetics Ruhr University in Germany.

APTX
Specificity
100 %
Genes
50 %
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

MCCC2, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRQ, UQCRB, ATPAF2, BCKDHA, BCKDHB, BCS1L, TWNK, CPT2, OPA1, TRMU, WFS1, DLD , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
50 %
NGS Neurodegenerative disorders Multi-Gene Panel (73 genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

MTHFR, ARG1, HLCS, BCKDHA, BCKDHB, ADSL, MMACHC, MTR, MTRR, CPS1, HPRT1, DLD, COQ9, PDSS2, PDSS1, GAMT, GATM, SPR, COQ8A, COQ2 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
50 %
Aprataxin (APTX) sequencing test.

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

APTX
Specificity
100 %
Genes
50 %
APTX. Complete sequencing.

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

APTX
Specificity
100 %
Genes
50 %
Ataxia-oculomotor apraxia 1 (AOA1, deletion/duplication analysis of APTX gene).

By CGC Genetics in Portugal.

APTX
Specificity
100 %
Genes
50 %
Hereditary ataxias (NGS panel for 44 genes).

By CGC Genetics in Portugal.

ABHD12, PRKCG, ELOVL4, POLG, AFG3L2, MTPAP, COQ8A, ABCB7, FXN, APTX, ATM, MRE11, MTTP, SACS, TTPA, CACNA1A, SETX, SYNE1, KCNA1, CACNB4 , (...)

View the complete list with 24 more genes
Specificity
5 %
Genes
100 %
Coenzyme Q10 deficiency (NGS panel for 8 genes).

By CGC Genetics in Portugal.

COQ9, PDSS2, PDSS1, COQ6, COQ8A, COQ2, ETFDH, APTX
Specificity
13 %
Genes
50 %
Ataxia with oculomotor apraxia (sequence analysis of APTX gene).

By CGC Genetics in Portugal.

APTX
Specificity
100 %
Genes
50 %
Hypercholesterolemia, familial (NGS panel for 15 genes).

By CGC Genetics in Portugal.

APTX, LDLR, LIPA, GHR, ABCG5, ABCG8, PCSK9, LDLRAP1, APOB, ABCA1, APOA2, PPP1R17, EPHX2, ITIH4, LRP6
Specificity
7 %
Genes
50 %
Ataxia with Oculomotor Apraxia 1.

By Centre de Genetique Humaine Institut de Pathologie et de Genetique in Belgium.

APTX
Specificity
100 %
Genes
50 %
Early-Onset Ataxia with Oculomotor Apraxia Type 1 via the APTX Gene.

By PreventionGenetics PreventionGenetics in United States.

APTX
Specificity
100 %
Genes
50 %
Ataxia with Oculomotor Apraxia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

APTX, SETX, PIK3R5
Specificity
34 %
Genes
50 %
Coenzyme Q10 Ubiquinone Deficiency Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

COQ9, PDSS2, PDSS1, COQ6, COQ8A, COQ2, ETFB, ETFA, ETFDH, APTX, COQ8B, COQ4
Specificity
9 %
Genes
50 %
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TWNK, OPA1, POLG, SLC25A4, RRM2B, MFN2, OPA3, AGK, DGUOK, SUCLA2, SLC25A3, POLG2, TK2, SPG7, TYMP, MPV17, SUCLG1, APTX, MGME1, SUCLG2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
50 %
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AARS2, ACAD9, YARS2, UQCRQ, UQCRB, ATP5F1E, ATPAF2, BCS1L, TWNK, C12orf65, ELAC2, OPA1, TRMU, DLD, POLG, NDUFS4, SLC25A4, GARS, AFG3L2, FOXRED1 , (...)

View the complete list with 154 more genes
Specificity
1 %
Genes
50 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
50 %
CoQ10 Deficiency.

By MGZ Medical Genetics Center in Germany.

COQ9, PDSS2, PDSS1, COQ6, COQ8A, COQ2, ETFB, ETFA, ETFDH, APTX, ANO10
Specificity
10 %
Genes
50 %
Mitochondrial Ataxia.

By MGZ Medical Genetics Center in Germany.

C12orf65, POLG, AFG3L2, MTPAP, COQ8A, SPG7, ABCB7, APTX, TACO1, MARS2
Specificity
10 %
Genes
50 %
APTX-Related Coenzyme Q10 Deficiency.

By MGZ Medical Genetics Center in Germany.

APTX
Specificity
100 %
Genes
50 %
Ataxia with Oculomotor Apraxia 1.

By MGZ Medical Genetics Center in Germany.

APTX
Specificity
100 %
Genes
50 %
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
100 %
Ataxia.

By MGZ Medical Genetics Center in Germany.

ARG1, BCKDHA, BCKDHB, C12orf65, CPS1, POLG, TTC19, COQ8A, DARS2, OTC, PDHA1, ABCB7, DBT, IVD, SLC25A15, ASS1, APTX, ASL, TACO1, SLC2A1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
50 %
Mitochondrial Diseases.

By MGZ Medical Genetics Center in Germany.

AARS2, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, UQCRB, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, C12orf65, SDHAF2, CPT2, OPA1, TRMU , (...)

View the complete list with 148 more genes
Specificity
1 %
Genes
50 %
Ataxia (AD/AR) panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

PRKCG, AFG3L2, FXN, APTX, AR, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A, TBP, SETX, KCNA1, KCNC3, PDYN, FGF14
Specificity
7 %
Genes
50 %
Ataxia-oculomotor apraxia type 1.

By Centogene AG - the Rare Disease Company in Germany.

APTX
Specificity
100 %
Genes
50 %
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
100 %
Coenzyme Q Deficiency Panel.

By CeGaT GmbH in Germany.

COQ9, PDSS2, PDSS1, COQ6, COQ8A, COQ2, ETFDH, APTX
Specificity
13 %
Genes
50 %
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
50 %
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
100 %
Coenzyme Q Deficiency Panel.

By CeGaT GmbH in Germany.

COQ9, PDSS2, PDSS1, COQ6, COQ8A, COQ2, ETFDH, APTX
Specificity
13 %
Genes
50 %
Single gene testing APTX.

By CeGaT GmbH in Germany.

APTX
Specificity
100 %
Genes
50 %
Ataxia, autosomal recessive and X-linked Panel.

By CeGaT GmbH in Germany.

AFG3L2, MTPAP, COQ8A, SPG7, ABCB7, HEXA, HEXB, FXN, APTX, TPP1, WWOX, ATM, MRE11, SACS, TTPA, PLA2G6, SETX, SYNE1, SYT14, ANO10 , (...)

View the complete list with 26 more genes
Specificity
5 %
Genes
100 %
Mitochondrial Diseases (mtDNA and 133 nuclear genes).

By Asper Biogene Asper Biogene LLC in Estonia.

AARS2, ACAD9, ACADL, ACADM, ACADS, ACADVL, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB, HLCS, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, C12orf65, SLC37A4 , (...)

View the complete list with 112 more genes
Specificity
1 %
Genes
50 %
Spinocerebellar Ataxia.

By Asper Biogene Asper Biogene LLC in Estonia.

ABHD12, TWNK, PRKCG, WFS1, ELOVL4, AFG3L2, ACO2, COQ8A, DARS2, POLG2, FLVCR1, ABCB7, SLC9A6, PHYH, FXN, CYP27A1, APTX, TPP1, WWOX, NPC1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
50 %
Ataxia with Oculomotor Apraxia 1.

By Praxis fuer Humangenetik Wien in Austria.

APTX
Specificity
100 %
Genes
50 %
Ataxia with Oculomotor Apraxia 1.

By MedGene in Slovakia.

APTX
Specificity
100 %
Genes
50 %
Ataxia with oculomotor apraxia type 1: APTX gene sequence analysis.

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

APTX
Specificity
100 %
Genes
50 %
Spinocerebellar ataxia.

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

PRKCG, POLG, AFG3L2, COQ9, PDSS2, PDSS1, COQ8A, COQ2, FXN, APTX, ATXN1, SACS, TTPA, PPP2R2B, ATXN2, ATXN3, ATXN10, ATXN7, CACNA1A, TBP , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
50 %
Ataxia.

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

PRKCG, POLG, AFG3L2, MTPAP, COQ8A, FXN, APTX, ATM, MRE11, MTTP, SACS, TTPA, CACNA1A, SETX, SYNE1, KCNA1, CACNB4, SLC1A3, SYT14, ANO10 , (...)

View the complete list with 12 more genes
Specificity
7 %
Genes
100 %
Hereditary Neuropathies: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, ATP7A, TWNK, PRKCG, POLG, GARS, KIF1B, MFN2, SPTLC2, COQ8A, REEP1, SPG7, ALDH3A2, PHYH, FXN, APTX, ELP1, GLA, PLP1, ATM , (...)

View the complete list with 70 more genes
Specificity
3 %
Genes
100 %
Dystonia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTEN, ATP7B, AUH, PSEN1, HPRT1, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PINK1, TIMM8A, MMADHC, SUOX, PTS, QDPR, MPV17, SDHAF1 , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
50 %
Hereditary Neuropathies: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, ATP7A, TWNK, PRKCG, POLG, GARS, KIF1B, MFN2, SPTLC2, COQ8A, REEP1, SPG7, ALDH3A2, PHYH, FXN, APTX, ELP1, GLA, PLP1, ATM , (...)

View the complete list with 70 more genes
Specificity
3 %
Genes
100 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
50 %
Lactic Acidosis-Pyruvate NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ACAD9, YARS2, FBP1, PC, GYS2, UQCRB, ATP5F1E, ATPAF2, BCS1L, TRMU, DLD, POLG, NDUFS4, SLC25A4, FOXRED1, RRM2B, FH, COQ9, PDSS2, PDSS1 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
50 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
50 %
APTX.

By Fulgent Genetics Fulgent Genetics in United States.

APTX
Specificity
100 %
Genes
50 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
50 %
Ataxia Panel.

By Blueprint Genetics in Finland.

FMR1, ABHD12, TWNK, PRKCG, PAX6, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4, TMEM67, ARL6, NPHP1, MKKS, CEP290, TTC8, TRIM32, POLG, NDUFS4, AFG3L2 , (...)

View the complete list with 137 more genes
Specificity
2 %
Genes
100 %
Neuro-Ophthalmology Panel.

By Blueprint Genetics in Finland.

TWNK, C12orf65, PAX6, TUBB3, GPR143, OPA1, WFS1, OTX2, POLG, SLC25A4, RRM2B, MFN2, OPA3, ACO2, TMEM126A, TK2, SPG7, CISD2, TYMP, PHOX2A , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
50 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
50 %
Coenzyme q10 Deficiency Panel.

By Blueprint Genetics in Finland.

COQ9, PDSS2, PDSS1, COQ6, COQ8A, COQ2, ETFB, ETFA, ETFDH, APTX, ANO10, COQ4, COQ7, COQ5, SLC25A26
Specificity
7 %
Genes
50 %
Mitochondrial DNA Depletion Syndrome Panel.

By Blueprint Genetics in Finland.

AUH, TWNK, C12orf65, OPA1, WFS1, POLG, SLC25A4, RRM2B, MFN2, OPA3, AGK, DGUOK, TMEM126A, SUCLA2, SLC25A3, POLG2, TK2, SPG7, TYMP, TIMM8A , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
50 %
Ataxia - oculomotor apraxia type 1.

By Bioarray in Spain.

APTX
Specificity
100 %
Genes
50 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
50 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
50 %
ATAXIA-OCULOMOTOR APRAXIA TYPE 1 (AOA1).

By Laboratorio de Genetica Clinica SL in Spain.

APTX
Specificity
100 %
Genes
50 %
Ataxia with Oculomotor Apraxia Type 1, Sequencing APTX Gene.

By Reference Laboratory Genetics in Spain.

APTX
Specificity
100 %
Genes
50 %
Ataxia with Oculomotor Apraxia Type 1 , Deletions-Duplications (MLPA) APTX Gene.

By Reference Laboratory Genetics in Spain.

APTX
Specificity
100 %
Genes
50 %
Ataxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes.

By Reference Laboratory Genetics in Spain.

PRKCG, POLG, AFG3L2, COQ9, PDSS2, PDSS1, COQ8A, COQ2, FXN, APTX, ATXN1, SACS, TTPA, PPP2R2B, ATXN2, ATXN3, ATXN10, ATXN7, CACNA1A, TBP , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
50 %
Ataxia with Oculomotor Apraxia , Panel Massive Sequencing (NGS) APTX,SETX,PIK3R5 Genes.

By Reference Laboratory Genetics in Spain.

APTX, SETX, PIK3R5
Specificity
34 %
Genes
50 %
Coenzyme Q10 Deficiency , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

COQ9, PDSS2, PDSS1, COQ6, COQ8A, COQ2, ETFB, ETFA, ETFDH, APTX, ANO10, COQ4
Specificity
9 %
Genes
50 %
Hereditary Brain, CNS, PNS Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

VHL, APC, MSH2, PMS2, MSH6, MLH1, TP53, MEN1, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU
Specificity
6 %
Genes
50 %
Hereditary Brain, CNS, PNS Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

VHL, APC, MSH2, PMS2, MSH6, MLH1, TP53, MEN1, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU
Specificity
6 %
Genes
50 %
Comprehensive Hereditary Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
50 %
Inherited Cancer Panel.

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

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RB1, SDHAF2, RET, FH, SDHB, TMEM127, MEN1, BLM , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
50 %
VisaSeq Breast and GYN Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, FANCC, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
50 %
VistaSeq Breast Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

BRCA1, BRCA2, MUTYH, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1, RAD51C, BARD1, RAD51D, NF1, ABRAXAS1
Specificity
6 %
Genes
50 %
MRE11A.

By Institute for Human Genetics University Clinic Freiburg in Germany.

MRE11
Specificity
100 %
Genes
50 %
Primary Antibody Deficiency Panel, Sequencing (35 Genes) and Deletion/Duplication (26 Genes).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

UNG, ADA, IKBKG, ATM, MRE11, NBN, BTK, SH2D1A, TNFRSF13B, AICDA, CD40, CD40LG, RAG2, XIAP, PTPRC, PIK3CD, LRBA, NFKBIA, NFKB2, PIK3R1 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
50 %
Hereditary Cancer Panel - Breast/Ovarian/Uterine26.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, FANCC, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
BreastNext.

By Ambry Genetics in United States.

BRCA1, BRCA2, MUTYH, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, CHEK2, RAD50, BRIP1, RAD51C, BARD1, RAD51D, NF1
Specificity
6 %
Genes
50 %
CancerNext-Expanded.

By Ambry Genetics in United States.

BRCA1, BRCA2, VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, SDHA , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
50 %
CancerNext.

By Ambry Genetics in United States.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CDK4, CDKN2A, CHEK2 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
50 %
CustomNext: Cancer.

By Ambry Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1 , (...)

View the complete list with 48 more genes
Specificity
2 %
Genes
50 %
MRE11A gene sequence and deletion/duplication.

By Ambry Genetics in United States.

MRE11
Specificity
100 %
Genes
50 %
OvaNext.

By Ambry Genetics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1, RAD51C , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
50 %
TumorNext-HRD+CancerNext.

By Ambry Genetics in United States.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CDK4, CDKN2A, CHEK2 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
50 %
TumorNext-Lynch+CancerNext.

By Ambry Genetics in United States.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, BRAF, KRAS, NRAS, ATM, MRE11, NBN, PALB2, CDH1, STK11 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
50 %
TumorNext-HRD+OvaNext.

By Ambry Genetics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1, RAD51C , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
50 %
TumorNext-HRD.

By Ambry Genetics in United States.

BRCA1, BRCA2, ATM, MRE11, NBN, PALB2, CHEK2, BRIP1, RAD51C, BARD1, RAD51D
Specificity
10 %
Genes
50 %
TumorNext-Lynch+OvaNext.

By Ambry Genetics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, KRAS, NRAS, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
50 %
Ataxia telangiectasia like disorder (sequence analysis of MRE11A gene).

By CGC Genetics in Portugal.

MRE11
Specificity
100 %
Genes
50 %
Hereditary Ovarian Cancer.

By Laboratory of Genetics HUSLAB in Finland.

BRCA1, BRCA2, TP53, MRE11, NBN, RAD50, BRIP1, RAD51C, BARD1, RAD51D, RAD51
Specificity
10 %
Genes
50 %
Hyper IgM Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UNG, ATM, MRE11, NBN, BTK, SH2D1A, AICDA, CD40, CD40LG, PIK3CD, NFKBIA
Specificity
10 %
Genes
50 %
Breast Cancer - Comprehensive Risk Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BRCA1, BRCA2, MUTYH, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, BRIP1, RAD51C, BARD1, RAD51D, NF1, RECQL
Specificity
6 %
Genes
50 %
Chromosomal Instability Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL4, BLM, ATM, MRE11, NBN, ERCC6, ERCC8, WRN
Specificity
13 %
Genes
50 %
Ataxia-Telangiectasia-Like Disorder via MRE11/MRE11A Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MRE11
Specificity
100 %
Genes
50 %
Hereditary Ovarian Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1, RAD51C , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
50 %
Hereditary Breast and Ovarian Cancer - Expanded and Lynch Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, FANCC, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
50 %
Microcephaly and Dwarfism.

By Institute of Human Genetics Cologne University in Germany.

MRE11, BRAT1, NHEJ1
Specificity
34 %
Genes
50 %
Microcephaly MRE11A related.

By Centogene AG - the Rare Disease Company in Germany.

MRE11
Specificity
100 %
Genes
50 %
Microcephaly MRE11A related.

By Centogene AG - the Rare Disease Company in Germany.

MRE11
Specificity
100 %
Genes
50 %
Ataxia telangiectasia like disorder.

By Centogene AG - the Rare Disease Company in Germany.

MRE11
Specificity
100 %
Genes
50 %
Breast ovarian cancer panel.

By Centogene AG - the Rare Disease Company in Germany.

MSH6, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, BRIP1, RAD51C, BARD1, RAD51
Specificity
8 %
Genes
50 %
Breast and Ovarian Cancer - extended Diagnostic Panel.

By CeGaT GmbH in Germany.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, SDHC, SDHB, MEN1, FANCC, ATM, MRE11, NBN, PTCH1, PALB2, CDH1 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
50 %
Single gene testing MRE11.

By CeGaT GmbH in Germany.

MRE11
Specificity
100 %
Genes
50 %
Bone marrow failure syndromes Panel.

By CeGaT GmbH in Germany.

BRCA2, FANCC, TINF2, MRE11, NBN, PALB2, BRIP1, SBDS, PRF1, RAD51C, RTEL1, WAS, FANCB, DKC1, LYST, TERC, TERT, CSF2RA, CTC1, WRAP53 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
50 %
Syndromes with immunodeficiency Panel.

By CeGaT GmbH in Germany.

PMS2, STAT3, BLM, RMRP, RUNX2, TINF2, FGFR2, ATM, MRE11, NBN, WAS, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1, NLRP3, DKC1, TERC , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
50 %
Breast and Ovarian Cancer.

By Asper Biogene Asper Biogene LLC in Estonia.

BRCA1, BRCA2, MSH2, MSH6, MLH1, MUTYH, TP53, CASP8, MEN1, FANCC, KRAS, ATM, MRE11, NBN, PALB2, STK11, CHEK2, BRIP1, RAD51C, BARD1 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
50 %
Inherited Cancer Screen.

By Counsyl in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RET, SDHC, SDHB, MEN1, SDHA, ATM, MRE11, NBN , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
50 %
qCancer Risk.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CDK4, CDKN2A, CHEK2 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
50 %
qCancer Risk Expanded.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, TSC2 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
50 %
qCancer Gine.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1, RAD51C , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
50 %
Invitae Joubert and Meckel-Gruber Syndromes Panel.

By Invitae in United States.

INPP5E, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, MKS1, MRE11, TMEM216, AHI1, OFD1, TMEM231, KIAA0586, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
50 %
Invitae Ciliopathies Panel.

By Invitae in United States.

INVS, INPP5E, CC2D2A, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, RPGR, CCDC39, XPNPEP3, IQCB1, BBS7, BBS5, BBS12, MKS1 , (...)

View the complete list with 82 more genes
Specificity
1 %
Genes
50 %
COLON, BREAST AND OVARIAN CANCER.

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

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, KRAS, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, BMPR1A , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
50 %
Hereditary Cancer Syndrome: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
50 %
Breast and Ovarian Cancer: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1, RAD51C , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
50 %
Hereditary Cancer Syndrome: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
50 %
Hereditary Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR, KIF1B , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
50 %
Microcephaly NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

SLC25A19, DNM1L, RARS2, WDR62, MRE11, VRK1, POMT1, MCPH1, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, PNKP, CASK, TSEN34, TSEN2, CEP152 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
50 %
Chromosomal Instability Syndromes NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BLM, ATM, MRE11, NBN, ERCC6, ERCC8, WRN
Specificity
15 %
Genes
50 %
MRE11A.

By Fulgent Genetics Fulgent Genetics in United States.

MRE11
Specificity
100 %
Genes
50 %
Focus Cancer Panel - 40 Genes.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RET, MEN1, FANCC, ATM, MRE11, NBN, PTCH1, PALB2 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
50 %
Breast Cancer Focus Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1, BARD1
Specificity
8 %
Genes
50 %
Ovarian Cancer Focus Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, TP53, ATM, MRE11, NBN, STK11, BRIP1, RAD51C, BARD1, RAD51D
Specificity
7 %
Genes
50 %
Comprehensive Cancer Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
50 %
Breast Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1, RAD51C, BARD1, RAD51D, NF1, XRCC2
Specificity
6 %
Genes
50 %
Ovarian Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, TP53, ATM, MRE11, NBN, STK11, BRIP1, RAD51C, BARD1, RAD51D, SMARCA4
Specificity
6 %
Genes
50 %
Microcephaly and Pontocerebellar Hypoplasia Panel.

By Blueprint Genetics in Finland.

RARS2, GFM1, WDR62, MRE11, PHGDH, DYNC1H1, VRK1, POMT1, MCPH1, ASPM, MBD5, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, KANSL1, DYRK1A , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
50 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
50 %
Comprehensive Hereditary Cancer Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, SDHAF2, RET, SDHC, RAF1 , (...)

View the complete list with 126 more genes
Specificity
1 %
Genes
50 %
Hereditary Breast and Gynecological Cancer Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, BLM, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1, RAD51C , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
50 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
50 %
Hereditary Breast and Ovarian Cancer 26 Gene Panel.

By Veritas Genetics Veritas Genetics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, MEN1, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
50 %
Hereditary Cancer Comprehensive Panel.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, WT1, RET, SDHC, SDHB, MEN1, ATM, MRE11 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
50 %
NeoTYPE® Discovery Profile for Solid Tumors.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, FOXL2, HNF1A, WT1, RB1, RET, SDHC, RAF1, FH , (...)

View the complete list with 295 more genes
Specificity
1 %
Genes
50 %
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
50 %
Otogenetics Hereditary Cancers.

By Otogenetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ELAC2, RET, MEN1, FANCC, HRAS, ATM, MRE11, NBN , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
50 %
Ataxia Telangiectasia-Like Disorder , Sequencing MRE11A Gene.

By Reference Laboratory Genetics in Spain.

MRE11
Specificity
100 %
Genes
50 %
Chromosome Breakage Related Disorders , Panel Massive Sequencing (NGS) 8 Genes.

By Reference Laboratory Genetics in Spain.

RECQL4, BLM, ATM, MRE11, NBN, ERCC6, ERCC8, WRN
Specificity
13 %
Genes
50 %
Ataxia-Telangiectasia, Panel Massive Sequencing (NGS) ATM, ATR, MRE11A Genes.

By Reference Laboratory Genetics in Spain.

ATM, MRE11, ATR
Specificity
34 %
Genes
50 %
152 Integrated Advantage NGS Solid Tumor Panel.

By Integrated Molecular Diagnostics Pathology, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, MLH1, PTEN, TP53, RB1, RET, RAF1, IDH2, TYMP, STAT3, FGFR3, AR, FANCC, BRAF, HRAS, KRAS , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
50 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
50 %
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
50 %
Breast and Ovarian Cancer: Sequencing and Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1, RAD51C , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
50 %
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, HFE, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R , (...)

View the complete list with 123 more genes
Specificity
1 %
Genes
50 %
Hereditary Cancer Syndrome: Gene Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
50 %
Hereditary Cancer Syndrome: Gene Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
50 %

Alternate names

Ataxia-telangiectasia-like Disorder 1; Atld1 Is also known as atld;aoa1.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like USHER SYNDROME, TYPE I; USH1 RADIN BLOOD GROUP ANTIGEN; RD MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1 C3HEX, ABILITY TO SMELL

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