NDUFA1 gene related symptoms and diseases
All the information presented here about the NDUFA1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NDUFA1 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Left ventricular hypertrophy | Very Common - Between 80% and 100% cases |
Pigmentary retinopathy | Very Common - Between 80% and 100% cases |
Optic disc pallor | Very Common - Between 80% and 100% cases |
Congenital diaphragmatic hernia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with NDUFA1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Cardiomegaly
- Coarctation of aorta
- Ventricular hypertrophy
- Wide anterior fontanel
- Febrile seizures
- Leukodystrophy
- Aspiration
- Cardiac arrest
And 132 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NDUFA1 gene
Here you will find a list of rare diseases related to the NDUFA1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ISOLATED COMPLEX I DEFICIENCY
Alternate names
ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency, nadh:q(1) oxidoreductase deficiency, isolated nadh-coq reductase deficiency, isolated mitochondrial respiratory chain complex i deficiency, isolated nadh-coenzyme q reductase deficiency, nadh-coenzyme q reductase
Description
Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).
Most common symptoms of ISOLATED COMPLEX I DEFICIENCY
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
More info about ISOLATED COMPLEX I DEFICIENCY
Search interest in NDUFA1
Potential gene panels for NDUFA1 gene
MitoMet®Plus aCGH Analysis Panel
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By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel![](/img/flags/United-states.png)
NDUFA1 Sequence Analysis (Prenatal Diagnosis) Panel
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By Baylor Miraca Genetics Laboratories
This panel specifically test the NDUFA1 gene.
More info about this panel![](/img/flags/United-states.png)
NDUFA1 Deletion/Duplication Analysis Panel
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By Baylor Miraca Genetics Laboratories
This panel specifically test the NDUFA1 gene.
More info about this panel![](/img/flags/United-states.png)
NDUFA1 Sequence Analysis Panel
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By Baylor Miraca Genetics Laboratories
This panel specifically test the NDUFA1 gene.
More info about this panel![](/img/flags/United-states.png)
NDUFA1 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
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By Baylor Miraca Genetics Laboratories
This panel specifically test the NDUFA1 gene.
More info about this panel![](/img/flags/United-states.png)
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel
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By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN9A ST3GAL5 SLC2A1 SLC35A2 SLC6A1
More info about this panel![](/img/flags/United-states.png)
Epilepsy Advanced Sequencing and CNV Evaluation Panel
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By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5
More info about this panel![](/img/flags/United-states.png)
NGS XLID Panel Panel
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By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS XLID Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel![](/img/flags/United-states.png)
NGS Epilepsy/Seizure Panel Panel
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By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Epilepsy/Seizure Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panel![](/img/flags/United-states.png)
Comprehensive Mitochondrial Metabolic Panel Panel
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By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Mitochondrial Metabolic Panel that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3
More info about this panel![](/img/flags/United-states.png)
Respiratory Chain Deficiency Panel
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By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Respiratory Chain Deficiency that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SURF1 UQCRB LRPPRC
More info about this panel![](/img/flags/United-states.png)
X-Linked Intellectual Disabilities Deletion/Duplication Panel
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By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-Linked Intellectual Disabilities Deletion/Duplication that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel![](/img/flags/United-states.png)
X-linked Intellectual Disabilities Sequencing Panel
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By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-linked Intellectual Disabilities Sequencing that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel![](/img/flags/United-states.png)
X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel
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By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel![](/img/flags/United-states.png)
Ataxia Exome Panel Panel
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By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel![](/img/flags/United-states.png)
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel
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By ARUP Laboratories, Molecular Genetics and Genomics Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3
More info about this panel![](/img/flags/United-states.png)
CustomNext: Neuro Panel
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By Ambry Genetics CustomNext: Neuro that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panel![](/img/flags/United-states.png)
Neurodevelopment-Expanded Panel
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By Ambry Genetics Neurodevelopment-Expanded that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panel![](/img/flags/United-states.png)
NDUFA1 gene sequence Panel
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By Ambry Genetics
This panel specifically test the NDUFA1 gene.
More info about this panel![](/img/flags/United-states.png)
IDNext Panel
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By Ambry Genetics IDNext that also includes the following genes: RPL10 RPS6KA3 SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMARCA2
More info about this panel![](/img/flags/United-states.png)
Mitochondrial complex I deficiency (sequence analysis of NDUFA1 gene) Panel
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By CGC Genetics
This panel specifically test the NDUFA1 gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Mental retardation, X-linked (NGS panel for 89 genes) Panel
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By CGC Genetics Mental retardation, X-linked (NGS panel for 89 genes) that also includes the following genes: RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Mitochondrial Complex I Deficiency Sequencing Panel with CNV Detection (Nuclear Genes) Panel
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By PreventionGenetics PreventionGenetics Mitochondrial Complex I Deficiency Sequencing Panel with CNV Detection (Nuclear Genes) that also includes the following genes: NDUFAF5 NDUFA13 NDUFAF1 NUBPL NDUFA11 NDUFAF4 ACAD9 NDUFA12 FOXRED1 NDUFAF2
More info about this panel![](/img/flags/United-states.png)
Mitochondrial Complex I Deficiency via NDUFA1 Gene Sequencing with CNV Detection Panel
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By PreventionGenetics PreventionGenetics
This panel specifically test the NDUFA1 gene.
More info about this panel![](/img/flags/United-states.png)
Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection that also includes the following genes: BCS1L SCO2 SUCLA2 SUCLG1 SURF1 TSFM FBXL4 GFM1 GTPBP3 LRPPRC
More info about this panel![](/img/flags/United-states.png)
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection that also includes the following genes: BCS1L MRPL12 MRPL3 SCO1 SCO2 SDHB SDHD SLC25A1 SLC25A3 SLC25A4
More info about this panel![](/img/flags/United-states.png)
Mental retardation - different panels Panel
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By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Mitochondrial Respiratory Chain Complex I Deficiency (Nuclear Genes) Panel
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By MGZ Medical Genetics Center Mitochondrial Respiratory Chain Complex I Deficiency (Nuclear Genes) that also includes the following genes: NDUFA11 ACAD9 NDUFAF2 NDUFAF6 NDUFA1 NDUFA10 NDUFA8 NDUFS1 NDUFS2 NDUFS3
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Neurogenetic Disorders - panels Panel
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By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Mental Retardation and Dysmorphology - panels Panel
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By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Syndromal Diseases - panels Panel
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By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
X-Linked Mental Retardation Panel
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By MGZ Medical Genetics Center X-Linked Mental Retardation that also includes the following genes: RPL10 RPS6KA3 SLC12A6 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Epilepsy and Mitochondrial Encephalopathy Panel
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By MGZ Medical Genetics Center Epilepsy and Mitochondrial Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Mitochondrial Diseases Panel
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By MGZ Medical Genetics Center Mitochondrial Diseases that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC22A5 SLC25A12
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Mitochondrial Encephalopathy Panel
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By MGZ Medical Genetics Center Mitochondrial Encephalopathy that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC25A12 SLC25A3
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Epilepsy Panel
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By MGZ Medical Genetics Center Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Complex I Defect Panel
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By MGZ Medical Genetics Center Complex I Defect that also includes the following genes: NDUFAF5 NDUFAF1 NUBPL NDUFA11 NDUFAF4 ACAD9 NDUFA12 FOXRED1 NDUFAF2 NDUFAF6
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Mitochondrial complex I deficiency Panel
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By Centogene AG - the Rare Disease Company
This panel specifically test the NDUFA1 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Comprehensive mitochondrial disorders panel Panel
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By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
AllNeuro panel Panel
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By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Nuclear encoded Mitochondriopathies Panel Panel
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By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel
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By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Mitochondrial Diseases (mtDNA and 133 nuclear genes) Panel
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By Asper Biogene Asper Biogene LLC Mitochondrial Diseases (mtDNA and 133 nuclear genes) that also includes the following genes: BCS1L SCO1 SCO2 SDHA SLC25A4 SLC6A8 SOD1 SPG7 SUCLA2 SUCLG1
More info about this panel![](/img/flags/Estonia.png.pagespeed.ce.3UWOPDUuUk.png)
NDUFA1-Related Mitochondrial Complex I Deficiency: NDUFA1 Full Gene Sequencing Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the NDUFA1 gene.
More info about this panel![](/img/flags/United-states.png)
NDUFA1-Related Mitochondrial Complex I Deficiency: NDUFA1 Gene Deletion/Duplication Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the NDUFA1 gene.
More info about this panel![](/img/flags/United-states.png)
Epilepsy and Seizure Disorders: Sequencing Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Epilepsy and Seizure Disorders: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panel![](/img/flags/United-states.png)
X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel![](/img/flags/United-states.png)
Mitochondrial Diseases: Sequencing Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Mitochondrial Diseases: Sequencing Panel that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SURF1 UQCRB LRPPRC NDUFAF5
More info about this panel![](/img/flags/United-states.png)
Epilepsy and Seizure Disorders: Deletion/Duplication Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Epilepsy and Seizure Disorders: Deletion/Duplication Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panel![](/img/flags/United-states.png)
Epilepsy NGS Panel Panel
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By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
More info about this panel![](/img/flags/United-states.png)
Intellectual Disability NGS Panel Panel
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By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel![](/img/flags/United-states.png)
Nuclear-Mito NGS Panel Panel
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By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel![](/img/flags/United-states.png)
XLID NGS Panel Panel
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By Fulgent Genetics Fulgent Genetics XLID NGS Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel![](/img/flags/United-states.png)
NDUFA1 Panel
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By Fulgent Genetics Fulgent Genetics
This panel specifically test the NDUFA1 gene.
More info about this panel![](/img/flags/United-states.png)
Comprehensive Epilepsy NGS Panel Panel
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By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panel![](/img/flags/United-states.png)
X-linked Intellectual Disability Panel Panel
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By Blueprint Genetics X-linked Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
MITOCHONDRIAL COMPLEX 1 DEFICIENCY (NUCLEAR GENE): NGS PANEL Panel
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By Laboratorio de Genetica Clinica SL MITOCHONDRIAL COMPLEX 1 DEFICIENCY (NUCLEAR GENE): NGS PANEL that also includes the following genes: NDUFAF5 NDUFAF1 NDUFA11 NDUFAF4 ACAD9 NDUFA12 FOXRED1 NDUFAF2 NDUFAF6 NDUFA1
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
MITOCHONDRIAL COMPLEX 1 DEFICIENCY (NUCLEAR GENE) Panel
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By Laboratorio de Genetica Clinica SL MITOCHONDRIAL COMPLEX 1 DEFICIENCY (NUCLEAR GENE) that also includes the following genes: NDUFAF5 NDUFA11 NDUFAF4 NDUFAF2 NDUFA1 NDUFA2 NDUFB3 NDUFS1 NDUFS2 NDUFS3
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
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