POLG gene related symptoms and diseases
All the information presented here about the POLG gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to POLG gene
Symptoms // Phenotype | % Cases |
---|---|
Peripheral neuropathy | Common - Between 50% and 80% cases |
Ataxia | Common - Between 50% and 80% cases |
Hearing impairment | Common - Between 50% and 80% cases |
Ophthalmoplegia | Common - Between 50% and 80% cases |
Seizures | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with POLG gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Dysphagia
- Dysarthria
- Areflexia
- Muscle weakness
- Peripheral axonal neuropathy
- Progressive external ophthalmoplegia
- Myopathy
- External ophthalmoplegia
And 307 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to POLG gene
Here you will find a list of rare diseases related to the POLG. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY
Alternate names
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY Is also known as myoneurogastrointestinal encephalopathy syndrome, polip syndrome, mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related, polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction, mngie, mngie, tymp-related
Description
Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.
Most common symptoms of MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY
- Intellectual disability
- Hearing impairment
- Ataxia
- Sensorineural hearing impairment
- Muscle weakness
More info about MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY
ALPERS-HUTTENLOCHER SYNDROME
Alternate names
ALPERS-HUTTENLOCHER SYNDROME Is also known as alpers syndrome, alpers-huttenlocher syndrome, pndc, alpers progressive infantile poliodystrophy, progressive neuronal degeneration of childhood with liver disease, neuronal degeneration of childhood with liver disease, progressive, alpers diffuse degeneration
Description
Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.
Most common symptoms of ALPERS-HUTTENLOCHER SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about ALPERS-HUTTENLOCHER SYNDROME
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B
Alternate names
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B Is also known as mngie, polg-related, mitochondrial neurogastrointestinal encephalopathy syndrome, polg-related
Description
Mitochondrial DNA depletion syndrome-4B is an autosomal recessive progressive multisystem disorder clinically characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia (PEO), axonal sensory ataxic neuropathy, and muscle weakness (van Goethem et al., 2003).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).
Most common symptoms of MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
- Hearing impairment
More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B
SOURCES: OMIM
AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA
Alternate names
AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as arpeo, progressive external ophthalmoplegia, autosomal recessive 1
Description
Progressive external ophthalmoplegia (PEO) is characterized by multiple mitochondrial DNA (mtDNA) deletions in skeletal muscle. The most common clinical features include adult-onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Less common features include mitral valve prolapse, cardiomyopathy, and gastrointestinal dysmotility. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).Drachman (1975) gave a classification of disorders associated with progressive external ophthalmoplegia, which he termed 'ophthalmoplegia plus' (Drachman, 1968).
Most common symptoms of AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA
- Seizures
- Hearing impairment
- Ataxia
- Muscle weakness
- Cataract
More info about AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA
SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME
Alternate names
SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME Is also known as sando
Description
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.
More info about SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME
SOURCES: ORPHANET
SPINOCEREBELLAR ATAXIA WITH EPILEPSY
Alternate names
SPINOCEREBELLAR ATAXIA WITH EPILEPSY Is also known as mitochondrial spinocerebellar ataxia with epilepsy, mscae, sensory ataxic neuropathy with mitochondrial dna deletions, autosomal recessive, scae
Description
Spinocerebellar ataxia with epilepsy is a rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate.
Most common symptoms of SPINOCEREBELLAR ATAXIA WITH EPILEPSY
- Seizures
- Hearing impairment
- Ataxia
- Nystagmus
- Sensorineural hearing impairment
More info about SPINOCEREBELLAR ATAXIA WITH EPILEPSY
PROGRESSIVE MYOCLONIC EPILEPSY TYPE 5
Alternate names
PROGRESSIVE MYOCLONIC EPILEPSY TYPE 5 Is also known as epm5, pme type 5, progressive myoclonus epilepsy type 5
Description
A rare, genetic neurological disorder characterized by early-onset progressive ataxia associated with myoclonic seizures, generalized tonic-clonic seizures (which are often sleep-related), and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated.
More info about PROGRESSIVE MYOCLONIC EPILEPSY TYPE 5
SOURCES: ORPHANET
AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA
Alternate names
AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as progressive external ophthalmoplegia, autosomal dominant 1, adpeo
Description
Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).PEO caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes (Lamantea et al., 2002).
Most common symptoms of AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA
- Intellectual disability
- Seizures
- Generalized hypotonia
- Hearing impairment
- Ataxia
More info about AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA
RECESSIVE MITOCHONDRIAL ATAXIA SYNDROME
Alternate names
RECESSIVE MITOCHONDRIAL ATAXIA SYNDROME Is also known as miras
Description
Recessive mitochondrial ataxia syndrome is a rare, mitochondrial DNA maintenance syndrome characterized by early-onset cerebellar ataxia, and variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders.
Most common symptoms of RECESSIVE MITOCHONDRIAL ATAXIA SYNDROME
- Seizures
- Generalized hypotonia
- Ataxia
- Cognitive impairment
- Peripheral neuropathy
More info about RECESSIVE MITOCHONDRIAL ATAXIA SYNDROME
SOURCES: ORPHANET
Search interest in POLG
Potential gene panels for POLG gene
MitoMet®Plus aCGH Analysis Panel
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 panelPOLG Comprehensive - Sequence & Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the POLG gene.
More info about this panelPOLG Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the POLG gene.
More info about this panelPOLG Sequence Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the POLG gene.
More info about this panelPOLG Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the POLG gene.
More info about this panelmtDNA Depletion/Integrity Panel (MitomeNGS) Panel
By Baylor Miraca Genetics Laboratories mtDNA Depletion/Integrity Panel (MitomeNGS) that also includes the following genes: SLC25A4 SUCLA2 SUCLG1 SUCLG2 TWNK TK2 MGME1 RRM2B DGUOK TYMP
More info about this panelPEO Panel (MitomeNGS) Panel
By Baylor Miraca Genetics Laboratories PEO Panel (MitomeNGS) that also includes the following genes: SLC25A4 TWNK MGME1 RRM2B OPA1 OPA3 POLG POLG2
More info about this panelGeneAware Complete Panel Version 2 (Female) Panel
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panelGeneAware Complete Panel Version 2 (Male) Panel
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panelProgressive External Ophthalmoplegia Evaluation (POLG, TWINKLE, ANT1, OPA1, MELAS) Panel
By Athena Diagnostics Inc Progressive External Ophthalmoplegia Evaluation (POLG, TWINKLE, ANT1, OPA1, MELAS) that also includes the following genes: SLC25A4 TWNK MT-TL1 OPA1 POLG
More info about this panelMitochondrial Hepatoencephalopathic Evaluation (POLG, DGUOK, MPV17, TWINKLE) Panel
By Athena Diagnostics Inc Mitochondrial Hepatoencephalopathic Evaluation (POLG, DGUOK, MPV17, TWINKLE) that also includes the following genes: TWNK DGUOK MPV17 POLG
More info about this panelPOLG DNA Sequencing Test Panel
By Athena Diagnostics Inc
This panel specifically test the POLG gene.
More info about this panelCommon Mitochondrial Disorders Evaluation (POLG, MELAS, MERRF, NARP) Panel
By Athena Diagnostics Inc Common Mitochondrial Disorders Evaluation (POLG, MELAS, MERRF, NARP) that also includes the following genes: MT-TK MT-TL1 POLG
More info about this panelPOLG DNA Sequencing Test (Alpers' Syndrome) Panel
By Athena Diagnostics Inc
This panel specifically test the POLG gene.
More info about this panelMiochondrial Encephalomyopathic Evaluation (TK2, RRM2B, POLG) Panel
By Athena Diagnostics Inc Miochondrial Encephalomyopathic Evaluation (TK2, RRM2B, POLG) that also includes the following genes: TK2 RRM2B POLG
More info about this panelMIRAS-Specific POLG1 DNA Test Panel
By Athena Diagnostics Inc
This panel specifically test the POLG gene.
More info about this panelAtaxia, Supplemental Recessive Evaluation Panel
By Athena Diagnostics Inc Ataxia, Supplemental Recessive Evaluation that also includes the following genes: SACS TTPA APTX COQ8A SYNE1 TDP1 SYT14 SIL1 FLVCR1 ANO10
More info about this panelAtaxia, Complete Recessive Evaluation Panel
By Athena Diagnostics Inc Ataxia, Complete Recessive Evaluation that also includes the following genes: SACS TTPA APTX COQ8A SYNE1 TDP1 SYT14 SIL1 FLVCR1 ANO10
More info about this panelAtaxia, Comprehensive Evaluation Panel
By Athena Diagnostics Inc Ataxia, Comprehensive Evaluation that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS SLC1A3 SPTBN2 TBP TTPA
More info about this panelEpilepsy Advanced Sequencing and CNV Evaluation Panel
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 panelEpilepsy Advanced Sequencing and CNV Evaluation - Epilepsy with Migraine Panel
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Epilepsy with Migraine that also includes the following genes: SCN1A SLC2A1 CACNA1A PRRT2 NOTCH3 ATP1A2 POLG
More info about this panelNGS Epilepsy/Seizure Panel Panel
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 panelPOLG1-related disorders Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
This panel specifically test the POLG gene.
More info about this panelOptic Atrophy and Early Glaucoma Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Optic Atrophy and Early Glaucoma Panel that also includes the following genes: SLC4A4 SPG7 TBK1 ACO2 BEST1 WFS1 ACVR1 OPTN ASB10 MFRP
More info about this panelMitochondrial Depletion Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Mitochondrial Depletion Panel that also includes the following genes: SLC25A4 SPG7 SUCLA2 SUCLG1 TWNK TFAM TK2 FBXL4 APTX MGME1
More info about this panelNeuromuscular Disorders Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG SLC25A4 SUCLA2
More info about this panelNGS Rhabdomyolysis and Metabolic Myopathies Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Rhabdomyolysis and Metabolic Myopathies Panel that also includes the following genes: RYR1 SCN4A SLC16A1 SUCLA2 TWNK TK2 TSFM LPIN1 SLC25A20 CASQ1
More info about this panelNGS Rhabdomyolysis and Metabolic Myopathies Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Rhabdomyolysis and Metabolic Myopathies Panel that also includes the following genes: RYR1 SCN4A SLC16A1 SUCLA2 TWNK TK2 TSFM LPIN1 SLC25A20 CASQ1
More info about this panelPOLG-Related Disorders - Sequencing Panel
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the POLG gene.
More info about this panelPOLG-Related Disorders - Del/Dup Analysis Panel
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the POLG gene.
More info about this panelChildhood Epilepsy Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Childhood Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SLC2A1 SLC9A6 CDKL5 SYN1 UBE3A CNTNAP2 CACNB4
More info about this panelComprehensive Mitochondrial Metabolic Panel Panel
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 panelEpilepsy/Seizure Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Epilepsy/Seizure that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A8 SLC9A6 BTD SPTAN1
More info about this panelInfantile Epilepsy Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Infantile Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SLC6A8 SLC9A6 BTD SPTAN1 CDKL5
More info about this panelMigraine and Strokes Panel Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Migraine and Strokes Panel that also includes the following genes: SCN1A SLC2A1 CACNA1A COL4A1 NOTCH3 ATP1A2 POLG HTRA1
More info about this panelMovement Disorders Panel Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Movement Disorders Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SNCA SPR SQSTM1 SUCLA2 SUOX
More info about this panelParkinson's Disease Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Parkinson's Disease that also includes the following genes: SLC6A3 SNCA TAF1 TH VPS35 FBXO7 PINK1 PARK7 LRRK2 CSF1R
More info about this panelProgressive External Opthalmoplegia Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Progressive External Opthalmoplegia that also includes the following genes: SLC25A4 TWNK RRM2B OPA1 POLG POLG2
More info about this panelPOLG1 Sequencing Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the POLG gene.
More info about this panelPOLG1 Deletion/duplication analysis Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the POLG gene.
More info about this panelLiver Diseases Deletion/duplication panel Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Liver Diseases Deletion/duplication panel that also includes the following genes: SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1 ABCG5 ABCG8 NPC2
More info about this panelLiver Diseases Panel by next-generation sequencing (NGS) Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Liver Diseases Panel by next-generation sequencing (NGS) that also includes the following genes: SCP2 SLC10A1 SLC10A2 SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1
More info about this panelEarly Infantile Epileptic Encephalopathy Panel Panel
By Genetic Services Laboratory University of Chicago Early Infantile Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN2A SCN8A ST3GAL3 ST3GAL5 SLC2A1 SPTAN1 CDKL5 STXBP1 SYNGAP1
More info about this panelDystonia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8
More info about this panelAtaxia Exome Panel Panel
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 panelEpilepsy Panel - Comprehensive Panel
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Epilepsy Panel - Comprehensive that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A8 SLC9A6 SPTAN1 CDKL5
More info about this panelMitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel
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 panelComprehensive Epilepsy Panel Panel
By GeneDx Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SLC9A6 SPTAN1 CDKL5 STXBP1 SYN1
More info about this panelSTAT Epilepsy Panel Panel
By GeneDx STAT Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SPTAN1 CDKL5 STXBP1 PCDH19 ARX
More info about this panelInfantile Epilepsy Panel Panel
By GeneDx Infantile Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SLC9A6 SPTAN1 CDKL5 STXBP1 TCF4
More info about this panelChildhood-Onset Epilepsy Panel Panel
By GeneDx Childhood-Onset Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SLC2A1 SLC9A6 CDKL5 SYN1 TCF4 UBE3A CNTNAP2
More info about this panelCustomNext: Neuro Panel
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 panelNeurodevelopment-Expanded Panel
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 panelEpilepsyNext Panel
By Ambry Genetics EpilepsyNext that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC9A6 SMC1A
More info about this panelEpiRapid Panel
By Ambry Genetics EpiRapid that also includes the following genes: SCN1A SCN8A SLC2A1 STXBP1 TSC1 TSC2 PCDH19 KCNT1 PNPO PRRT2
More info about this panelEpiRapid reflex EpilepsyNext Panel
By Ambry Genetics EpiRapid reflex EpilepsyNext that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC9A6 SMC1A
More info about this panelPOLG. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the POLG gene.
More info about this panelPOLG. Detection of the mutations p.Thr251Ile, p.Ala467Thr, p. Pro587Leu, p.Trp748Ser and p.Gly848Ser by sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the POLG gene.
More info about this panelMECP2, SCN1B, GABRG2, LGI1, POLG, POLG2, SLC25A22, SPTAN1, SRPX2. NextGeneDx.Complete sequencing by NGS Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica MECP2, SCN1B, GABRG2, LGI1, POLG, POLG2, SLC25A22, SPTAN1, SRPX2. NextGeneDx.Complete sequencing by NGS that also includes the following genes: SCN1B SPTAN1 SLC25A22 SRPX2 GABRG2 LGI1 MECP2 POLG POLG2
More info about this panelMitochondrial DNA depletion syndrome 4A-Alpers/4B-MNGIE (sequence analysis of POLG gene) Panel
By CGC Genetics
This panel specifically test the POLG gene.
More info about this panelAutosomal Recessive Progressive External Ophthalmoplegia (sequence analysis of POLG gene) Panel
By CGC Genetics
This panel specifically test the POLG gene.
More info about this panelProgressive external ophthalmoplegia (sequence analysis of POLG gene) Panel
By CGC Genetics
This panel specifically test the POLG gene.
More info about this panelChildhood Myocerebrohepatopathy Spectrum Disorders (sequence analysis of POLG gene) Panel
By CGC Genetics
This panel specifically test the POLG gene.
More info about this panelMitochondrial DNA depletion syndrome 4A/4B (mutations A467T, W748S and G848S on POLG gene) Panel
By CGC Genetics
This panel specifically test the POLG gene.
More info about this panelMyoclonic Epilepsy Myopathy Sensory Ataxia (sequence analysis of POLG gene) Panel
By CGC Genetics
This panel specifically test the POLG gene.
More info about this panelPOLG-Related Ataxia Neuropathy Spectrum Disorders (sequence analysis of POLG gene) Panel
By CGC Genetics
This panel specifically test the POLG gene.
More info about this panelSpinocerebellar ataxia with epilepsy (sequence analysis of POLG gene) Panel
By CGC Genetics
This panel specifically test the POLG gene.
More info about this panelHereditary ataxias (NGS panel for 44 genes) Panel
By CGC Genetics Hereditary ataxias (NGS panel for 44 genes) that also includes the following genes: SACS SLC1A3 SPTBN2 TTPA VAMP1 VLDLR CACNA1A CACNB4 ELOVL4 ABHD12
More info about this panelParkinson disease (NGS panel for 33 genes) Panel
By CGC Genetics Parkinson disease (NGS panel for 33 genes) that also includes the following genes: SLC6A3 SNCA SNCAIP SNCB SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35
More info about this panelSensory ataxic neuropathy, dysarthria and ophthalmoparesis (SANDO, sequence analysis of POLG gene) Panel
By CGC Genetics
This panel specifically test the POLG gene.
More info about this panelMitochondrial DNA depletion syndrome 4A-Alpers/4B-MNGIE (deletion/duplication analysis of POLG gene) Panel
By CGC Genetics
This panel specifically test the POLG gene.
More info about this panelProgressive external ophthalmoplegia (NGS panel of 12 genes) Panel
By CGC Genetics Progressive external ophthalmoplegia (NGS panel of 12 genes) that also includes the following genes: SLC25A4 TWNK TK2 MGME1 RRM2B RNASEH1 DGUOK DNA2 TYMP OPA1
More info about this panelMitochondrial DNA depletion syndrome 4A-Alpers/4B-MNGIE (deletion/duplication analysis of POLG gene) Panel
By CGC Genetics
This panel specifically test the POLG gene.
More info about this panelProgressive external ophthalmoplegia (NGS panel of 12 genes) Panel
By CGC Genetics Progressive external ophthalmoplegia (NGS panel of 12 genes) that also includes the following genes: SLC25A4 TWNK TK2 MGME1 RRM2B RNASEH1 DGUOK DNA2 TYMP OPA1
More info about this panelPOLG Sequence Analysis Panel
By Translational Metabolic Laboratory Radboud University Medical Centre
This panel specifically test the POLG gene.
More info about this panelPOLG-Related Disorders Panel
By Laboratory of Genetics BioTe21 Adam Master
This panel specifically test the POLG gene.
More info about this panelEarly Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC2A1 SLC35A2 SLC9A6
More info about this panelPOLG-Related Mitochondrial Disorders via POLG Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the POLG gene.
More info about this panelComprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection that also includes the following genes: RORB SCN10A SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC17A5
More info about this panelHereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SCN11A SCN9A DST ATL1 SPTLC1 SPTLC2 PRDM12 WNK1 CCT5 CLTCL1
More info about this panelMitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel with CNV Detection that also includes the following genes: SLC25A3 SLC25A4 SPG7 SUCLA2 SUCLG1 SUCLG2 TWNK TK2 FBXL4 APTX
More info about this panelOptic Atrophy Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Optic Atrophy Sequencing Panel with CNV Detection that also includes the following genes: SLC24A1 SPG7 ACO2 TIMM8A WFS1 MFN2 CISD2 TMEM126A MTPAP C12orf65
More info about this panelLeukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCP2 AIMP1 SDHB SLC16A2 SLC17A5 SLC25A1 SLC25A12 SLC25A4 SOX10 SPG11
More info about this panelMitochondrial Complex I Deficiency Sequencing Panel with CNV Detection (Nuclear Genes) Panel
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 panelMetabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel Panel
By PreventionGenetics PreventionGenetics Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel that also includes the following genes: RYR1 SLC22A5 SUCLA2 TAZ TWNK TK2 LPIN1 SLC25A20 RBCK1 COQ8A
More info about this panelEpilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE
More info about this panelLeigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel
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 panelMitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel
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 panelParkinson Disease and Parkinsonism Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection that also includes the following genes: SLC20A2 SLC6A3 SNCA SNCB SPG11 SPR SYNJ1 TAF1 TARDBP TWNK
More info about this panelNeuropathy Panel
By MGZ Medical Genetics Center Neuropathy that also includes the following genes: SACS SCN10A SCN11A SCN9A SH3BP4 SLC12A6 SOD1 SPG11 ATL1 SPAST
More info about this panelPOLG-Related Disorders Panel
By MGZ Medical Genetics Center
This panel specifically test the POLG gene.
More info about this panelKearns Sayre syndrome Panel
By MGZ Medical Genetics Center Kearns Sayre syndrome that also includes the following genes: SLC25A4 TK2 MGME1 RRM2B C12orf65 POLG POLG2
More info about this panelMitochondrial Depletion Panel
By MGZ Medical Genetics Center Mitochondrial Depletion that also includes the following genes: SUCLA2 SUCLG1 TWNK TK2 MGME1 RRM2B DGUOK TYMP GFER MPV17
More info about this panelMitochondrial Ataxia Panel
By MGZ Medical Genetics Center Mitochondrial Ataxia that also includes the following genes: SPG7 APTX COQ8A TACO1 MARS2 MTPAP C12orf65 AFG3L2 ABCB7 POLG
More info about this panelCombined Respiratory Chain Defects Panel
By MGZ Medical Genetics Center Combined Respiratory Chain Defects that also includes the following genes: SUCLA2 SUCLG1 TK2 TSFM TUFM GFM1 MRPS16 MRPS22 PUS1 LRPPRC
More info about this panelVascular and connective tissue diseases - panels Panel
By MGZ Medical Genetics Center Vascular and connective tissue diseases - panels that also includes the following genes: AIMP1 BMPR1B BMPR2 SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB TREX1
More info about this panelHepatic and pancreatic diseases - panels Panel
By MGZ Medical Genetics Center Hepatic and pancreatic diseases - panels that also includes the following genes: SLCO1B1 SLCO1B3 SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UROD UROS VPS33B
More info about this panelNeurogenetic Disorders - panels Panel
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 panelEpileptic Encephalopathy Panel
By MGZ Medical Genetics Center Epileptic Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SGCE SLC2A1 SPTAN1 CDKL5 STXBP1 SYNGAP1
More info about this panelEpileptic Encephalopathy – Basic Diagnostics Panel
By MGZ Medical Genetics Center Epileptic Encephalopathy – Basic Diagnostics that also includes the following genes: SCN1A SCN2A SLC2A1 CDKL5 STXBP1 SYNGAP1 PCDH19 ARX KCNT1 PNPO
More info about this panelProgressive Myoclonic Epilepsy Panel
By MGZ Medical Genetics Center Progressive Myoclonic Epilepsy that also includes the following genes: SGCE CACNB4 NPC2 CASR EFHC1 SCARB2 PRICKLE1 PRICKLE2 TPP1 CLN3
More info about this panelAtaxia Panel
By MGZ Medical Genetics Center Ataxia that also includes the following genes: SACS SLC1A3 SLC25A15 SLC2A1 SLC2A10 CACNA1A CACNA1C CACNB4 APTX SLC52A3
More info about this panelMitochondrial Encephalopathy / Leigh Syndrome – Basic Diagnostic Panel
By MGZ Medical Genetics Center Mitochondrial Encephalopathy / Leigh Syndrome – Basic Diagnostic that also includes the following genes: SCO1 SCO2 SUCLA2 SUCLG1 SURF1 TWNK TK2 FBXL4 SLC19A3 COQ8A
More info about this panelEpilepsy and Mitochondrial Encephalopathy Panel
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 panelMitochondrial Diseases Panel
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 panelMitochondrial Myopathy Panel
By MGZ Medical Genetics Center Mitochondrial Myopathy that also includes the following genes: SLC22A5 TWNK TK2 PUS1 RRM2B CHKB CPT2 ISCU FDX2 ETFA
More info about this panelMitochondriopathy – Chronic Progressive External Ophthalmoplegia (CPEO) Panel
By MGZ Medical Genetics Center Mitochondriopathy – Chronic Progressive External Ophthalmoplegia (CPEO) that also includes the following genes: SLC25A4 SPG7 TWNK TK2 MGME1 RRM2B TYMP POLG POLG2
More info about this panelMuscle Disease with Ptosis / External Ophthalmoplegia Panel
By MGZ Medical Genetics Center Muscle Disease with Ptosis / External Ophthalmoplegia that also includes the following genes: RYR1 SLC25A4 TWNK RRM2B CHAT KIF21A CHRNA1 CHRNB1 CHRND CHRNE
More info about this panelMitochondrial Hepato(encephalo)pathy and Phenocopies Panel
By MGZ Medical Genetics Center Mitochondrial Hepato(encephalo)pathy and Phenocopies that also includes the following genes: BCS1L SCO1 SUCLG1 TWNK TSFM GFM1 ABHD5 CPT1A TRMU DGUOK
More info about this panelMitochondrial Encephalopathy Panel
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 panelMuscle Weakness (Myopathy, Muscular Dystrophy) Panel
By MGZ Medical Genetics Center Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: RYR1 BIN1 SCN4A SCO2 SDHA SGCA SGCB SGCD SGCG SLC22A5
More info about this panelEpilepsy Panel
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 panelTeenager Stroke / Stroke-Like Episodes Panel
By MGZ Medical Genetics Center Teenager Stroke / Stroke-Like Episodes that also includes the following genes: TGFB2 TGFBR1 TGFBR2 TREX1 TTR SLC2A10 CACNA1C CBS ADA2 COL3A1
More info about this panelMuscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) Panel
By MGZ Medical Genetics Center Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) that also includes the following genes: RYR1 SCN4A SGCA SGCB SGCD SGCG SLC22A5 STIM1 TCAP TIA1
More info about this panelMitochondrial DNA depletion syndrome 4A (Alpers type) Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the POLG gene.
More info about this panelMitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the POLG gene.
More info about this panelProgressive external ophthalmoplegia with mitochondrial deletions autosomal recessive Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the POLG gene.
More info about this panelComprehensive mitochondrial disorders panel Panel
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 panelMitochondrial dysfunctions panel Panel
By Centogene AG - the Rare Disease Company Mitochondrial dysfunctions panel that also includes the following genes: SUCLA2 SUCLG1 TWNK TK2 PUS1 RRM2B DGUOK TYMP MPV17 MT-ND1
More info about this panelAllNeuro panel Panel
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 panelCentoICU platinum plus Panel
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelNew Born testing (CentoICU) Panel
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelProgressive external ophthalmoplegia with mitochondrial deletions, autosomal recessive Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the POLG gene.
More info about this panelMitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the POLG gene.
More info about this panelProgressive external ophthalmoplegia with mitochondrial deletions type 1 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the POLG gene.
More info about this panelSensory ataxic neuropathy dysarthria, and ophthalmoparesis Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the POLG gene.
More info about this panelComprehensive mtDNA Depletion Syndromes NGS Panel Panel
By MNG Laboratories (Medical Neurogenetics, LLC.) Comprehensive mtDNA Depletion Syndromes NGS Panel that also includes the following genes: SLC25A4 SUCLA2 SUCLG1 TWNK TK2 FBXL4 CHCHD10 MGME1 RRM2B DGUOK
More info about this panelMigraine Panel Panel
By CeGaT GmbH Migraine Panel that also includes the following genes: SCN1A SLC1A3 SLC2A1 CACNA1A KCNK18 PRRT2 NOTCH3 ATP1A2 ATP1A3 POLG
More info about this panelParkinson all Panel Panel
By CeGaT GmbH Parkinson all Panel that also includes the following genes: ATXN2 SLC6A3 SNCA SPG11 SPR SYNJ1 TAF1 TH VPS35 FBXO7
More info about this panelCongenital and Distal Myopathies Panel Panel
By CeGaT GmbH Congenital and Distal Myopathies Panel that also includes the following genes: RYR1 BIN1 STIM1 SUCLA2 TWNK TIA1 TK2 TNNT1 TPM2 TPM3
More info about this panelNuclear encoded Mitochondriopathies Panel Panel
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 panelAtaxia and differential diagnoses Panel Panel
By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1
More info about this panelAtypical Parkinson syndrome Panel Panel
By CeGaT GmbH Atypical Parkinson syndrome Panel that also includes the following genes: ATXN2 SPG11 SYNJ1 TH FBXO7 DNAJC6 RAB39B ATP6AP2 ZFYVE26 SLC30A10
More info about this panelBasal ganglia calcification Panel Panel
By CeGaT GmbH Basal ganglia calcification Panel that also includes the following genes: SLC20A2 BRAF TBCE TREX1 TYROBP XPR1 CA2 PANK2 SAMHD1 TREM2
More info about this panelLeukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel
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 panelCharcot-Marie-Tooth and Sensory Neuropathies Panel Panel
By CeGaT GmbH Charcot-Marie-Tooth and Sensory Neuropathies Panel that also includes the following genes: SBF1 SCN10A SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2
More info about this panelSingle gene testing POLG Panel
By CeGaT GmbH
This panel specifically test the POLG gene.
More info about this panelPOLG-Related Disorders Panel
By Centre for Inherited Metabolic Diseases Karolinska University Hospital
This panel specifically test the POLG gene.
More info about this panelMitochondrial Diseases (mtDNA and 133 nuclear genes) Panel
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 panelCharcot-Marie-Tooth Disease Panel
By Asper Biogene Asper Biogene LLC Charcot-Marie-Tooth Disease that also includes the following genes: SBF1 SCN9A SPTLC1 SPTLC2 SURF1 TFG VCP YARS PRX SLC5A7
More info about this panelEpilepsy Panel
By Asper Biogene Asper Biogene LLC Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 ST3GAL5 SLC35A2 SLC35A3 SLC6A1 SLC6A8
More info about this panelMetabolic Myopathy and Rhabdomyolysis Panel
By Asper Biogene Asper Biogene LLC Metabolic Myopathy and Rhabdomyolysis that also includes the following genes: RYR1 SCN4A SLC22A5 SUCLA2 TAZ TWNK TK2 LPIN1 SLC25A20 CAV3
More info about this panelPOLG-Related Disorders Panel
By Clinical Genomics Maastricht University Medical Centre
This panel specifically test the POLG gene.
More info about this panelAlpers-Huttenlocher syndrome Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the POLG gene.
More info about this panelMitochondrial DNA depletion syndrome 4A (Alpers type) Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the POLG gene.
More info about this panelMitochondrial recessive ataxia syndrome (includes SANDO and SCAE) Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the POLG gene.
More info about this panelMitochondrial DNA depletion syndrome 4B (MNGIE type) Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the POLG gene.
More info about this panelOphthalmoplegia, progressive external 1 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the POLG gene.
More info about this panelOphthalmoplegia, progressive external 1 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the POLG gene.
More info about this panelAlpers-Huttenlocher syndrome Panel
By MedGene
This panel specifically test the POLG gene.
More info about this panelMitochondrial DNA depletion syndrome 4A (Alpers type) Panel
By MedGene
This panel specifically test the POLG gene.
More info about this panelMitochondrial DNA depletion syndrome 4B (MNGIE type) Panel
By MedGene
This panel specifically test the POLG gene.
More info about this panelMitochondrial recessive ataxia syndrome (includes SANDO and SCAE) Panel
By MedGene
This panel specifically test the POLG gene.
More info about this panelOphthalmoplegia, progressive external 1 Panel
By MedGene
This panel specifically test the POLG gene.
More info about this panelOphthalmoplegia, progressive external 1 Panel
By MedGene
This panel specifically test the POLG gene.
More info about this panelInvitae Organic Acidemias Panel Panel
By Invitae Invitae Organic Acidemias Panel that also includes the following genes: SLC25A1 BTD SUCLA2 SUCLG1 TAZ MCEE MMAA MMAB L2HGDH SERAC1
More info about this panelInvitae Epilepsy Panel Panel
By Invitae Invitae Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SGCE SLC2A1 SLC35A2 SLC6A1
More info about this panelAlpers-Huttenlocher syndrome: POLG gene screening Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the POLG gene.
More info about this panelAlpers-Huttenlocher syndrome: POLG gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the POLG gene.
More info about this panelMIGRAINE Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases MIGRAINE that also includes the following genes: SCN1A SLC2A1 CACNA1A NOTCH3 ATP1A2 POLG
More info about this panelSpinocerebellar ataxia Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Spinocerebellar ataxia that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 SLC1A3 SPTBN2 TBP TTPA VLDLR
More info about this panelAtaxia Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Ataxia that also includes the following genes: SACS SLC1A3 SPTBN2 TTPA CACNA1A CACNB4 APTX TGM6 COQ8A SYNE1
More info about this panelOptic atrophy Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Optic atrophy that also includes the following genes: SPG7 TIMM8A WFS1 MFN2 CISD2 TMEM126A C12orf65 NDUFS1 OPA1 OPA3
More info about this panelNGS panel - Parkinson Panel
By Genome Diagnostics VU University Medical Center NGS panel - Parkinson that also includes the following genes: ATXN2 SLC18A2 SLC6A3 SNCA SPR SYNJ1 TAF1 TH GIGYF2 UCHL1
More info about this panelEpilepsy and Seizure Disorders: Sequencing Panel Panel
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 panelHereditary Neuropathies: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Sequencing Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1
More info about this panelNeurology: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neurology: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL SIX3
More info about this panelInherited Metabolic Disorders: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Inherited Metabolic Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SLC22A5 SLC25A13 SLC25A15 SLC7A7 SMPD1 SUCLG1 TAZ LPIN1
More info about this panelNeonatal and Adult Cholestasis: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neonatal and Adult Cholestasis: Sequencing Panel that also includes the following genes: SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UGT1A1 VPS33B ABCG5 ABCG8 NPC2
More info about this panelEpilepsy and Seizure Disorders: Deletion/Duplication Panel Panel
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 panelHereditary Neuropathies: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Deletion/Duplication Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1
More info about this panelEpilepsy NGS Panel Panel
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 panelLactic Acidosis-Pyruvate NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Lactic Acidosis-Pyruvate NGS Panel that also includes the following genes: BCS1L SCO2 SLC25A3 SLC25A4 SUCLA2 SUCLG1 SURF1 TAZ TK2 TSFM
More info about this panelMigraine NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Migraine NGS Panel that also includes the following genes: SCN1A SLC2A1 CDKL5 STXBP1 CACNA1A PCDH19 ARX PNPO FOLR1 FOXG1
More info about this panelMyopathy-Rhabdomyolysis NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Myopathy-Rhabdomyolysis NGS Panel that also includes the following genes: SUCLA2 TWNK TK2 RRM2B ACAD9 CPT1B CPT2 TYMP AGL GAA
More info about this panelMitochondrial DNA Depletion Syndromes NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Mitochondrial DNA Depletion Syndromes NGS Panel that also includes the following genes: SLC25A4 SUCLA2 SUCLG1 TWNK TK2 RRM2B DGUOK TYMP MPV17 POLG
More info about this panelParkinson-Alzheimer-Dementia NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Parkinson-Alzheimer-Dementia NGS Panel that also includes the following genes: SLC6A3 SNCA SNCB TAF1 TH TYROBP UCHL1 VPS35 FBXO7 AAAS
More info about this panelNuclear-Mito NGS Panel Panel
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 panelmtDNA Depletion Syndrome NGS Panel Panel
By Fulgent Genetics Fulgent Genetics mtDNA Depletion Syndrome NGS Panel that also includes the following genes: SLC25A4 SUCLA2 SUCLG1 TWNK TK2 RRM2B DGUOK TYMP MPV17 POLG
More info about this panelHemiplegia/Stroke NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Hemiplegia/Stroke NGS Panel that also includes the following genes: SCN1A SLC2A1 CACNA1A COL4A1 COL4A2 NOTCH3 ATP1A2 ATP1A3 OTC POLG
More info about this panelPOLG Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the POLG gene.
More info about this panelEssential Epilepsy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Essential Epilepsy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC2A1 SLC35A2 SLC9A6
More info about this panelEarly-Onset Epileptic Encephalopathy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Early-Onset Epileptic Encephalopathy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC25A12
More info about this panelComprehensive Epilepsy NGS Panel Panel
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 panelNCL and Progressive Myoclonic Epilepsy Panel Panel
By Blueprint Genetics NCL and Progressive Myoclonic Epilepsy Panel that also includes the following genes: CERS1 DNAJC5 SCARB2 PRICKLE1 TPP1 CLN3 CLN5 CLN6 CLN8 FARS2
More info about this panelAtaxia Panel Panel
By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2
More info about this panelComprehensive Muscular Dystrophy / Myopathy Panel Panel
By Blueprint Genetics Comprehensive Muscular Dystrophy / Myopathy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP TNNT1 TPM2 TPM3 MYOT TTN
More info about this panelNeuro-Ophthalmology Panel Panel
By Blueprint Genetics Neuro-Ophthalmology Panel that also includes the following genes: SLC25A4 SOX2 SPG7 TWNK ACO2 TIMM8A TK2 WFS1 ROBO3 SALL4
More info about this panelCharcot-Marie-Tooth Neuropathy Panel Panel
By Blueprint Genetics Charcot-Marie-Tooth Neuropathy Panel that also includes the following genes: SACS SBF1 SCN11A SCN9A DST SLC12A6 SPG11 ATL1 SPTLC1 SPTLC2
More info about this panelPremature Ovarian Failure Panel Panel
By Blueprint Genetics Premature Ovarian Failure Panel that also includes the following genes: BMP15 FOXL2 STAR WT1 NOBOX CYP17A1 CYP19A1 FSHR GALT GNAS
More info about this panelOptic Atrophy Panel Panel
By Blueprint Genetics Optic Atrophy Panel that also includes the following genes: SPG7 ACO2 TIMM8A WFS1 SNX10 MFN2 RTN4IP1 CISD2 SLC25A46 TMEM126A
More info about this panelComprehensive Metabolism Panel Panel
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panelMetabolic Epilepsy Panel Panel
By Blueprint Genetics Metabolic Epilepsy Panel that also includes the following genes: SLC25A1 SLC25A15 SLC2A1 BTD SUOX GPHN L2HGDH SLC39A8 SERAC1 ABAT
More info about this panelEpileptic Encephalopathy Panel Panel
By Blueprint Genetics Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 ST3GAL3 ST3GAL5 SLC25A1 SLC2A1 SLC35A2
More info about this panelMetabolic Myopathy and Rhabdomyolysis Panel Panel
By Blueprint Genetics Metabolic Myopathy and Rhabdomyolysis Panel that also includes the following genes: RYR1 SCN4A SLC22A5 SUCLA2 TWNK TK2 LPIN1 SLC25A20 CAV3 RBCK1
More info about this panelMitochondrial DNA Depletion Syndrome Panel Panel
By Blueprint Genetics Mitochondrial DNA Depletion Syndrome Panel that also includes the following genes: SLC25A3 SLC25A4 SPG7 SUCLA2 SUCLG1 TWNK TIMM8A TK2 WFS1 FBXL4
More info about this panelMigraine Panel Panel
By Blueprint Genetics Migraine Panel that also includes the following genes: SCN1A SLC1A3 SLC2A1 CACNA1A KCNK18 PRRT2 NOTCH3 ATP1A2 ATP1A3 POLG
More info about this panelComprehensive Epilepsy Panel Panel
By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1
More info about this panelIdiopathic Generalized and Focal Epilepsy Panel Panel
By Blueprint Genetics Idiopathic Generalized and Focal Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A1 CACNA1H CACNB4 CASR
More info about this panelProgressive external ophthalmoplegia, autosomal dominant Panel
By Bioarray
This panel specifically test the POLG gene.
More info about this panelPOLG Gene Sequencing and Deletion/Duplication Analysis Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the POLG gene.
More info about this panelNext Generation Sequencing for Jaundice Associated Genes Variation Test Panel
By National Taiwan University Hospital A1 Center National Taiwan University Hospital Next Generation Sequencing for Jaundice Associated Genes Variation Test that also includes the following genes: BCS1L SCO1 SLC10A1 SLC40A1 SLCO1A2 SLCO1B1 SLCO1B3 SLCO2B1 SLC25A13 SUCLG1
More info about this panelMITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM Panel
By Laboratorio de Genetica Clinica SL MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM that also includes the following genes: TWNK DGUOK MPV17 POLG
More info about this panelALPERS-HUTTENLOCHER SYNDROME Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the POLG gene.
More info about this panelMITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY (MNGIE) Panel
By Laboratorio de Genetica Clinica SL MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY (MNGIE) that also includes the following genes: RRM2B TYMP POLG
More info about this panelSENSORY ATAXIC NEUROPATHY - DYSARTHRIA - OPHTHALMOPARESIS (SANDO) Panel
By Laboratorio de Genetica Clinica SL SENSORY ATAXIC NEUROPATHY - DYSARTHRIA - OPHTHALMOPARESIS (SANDO) that also includes the following genes: TWNK POLG
More info about this panelOPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL (PEO) Panel
By Laboratorio de Genetica Clinica SL OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL (PEO) that also includes the following genes: SLC25A4 TWNK POLG POLG2
More info about this panelSPINOCEREBELLAR ATAXIA NGS PANEL Panel
By Laboratorio de Genetica Clinica SL SPINOCEREBELLAR ATAXIA NGS PANEL that also includes the following genes: SPTBN2 STUB1 TWNK TTPA WWOX CA8 CACNA1A CACNA1G ELOVL4 APTX
More info about this panelPROGRESSIVE MYOCLONIC EPILEPSY/GEFs+ NGS PANEL Panel
By Laboratorio de Genetica Clinica SL PROGRESSIVE MYOCLONIC EPILEPSY/GEFs+ NGS PANEL that also includes the following genes: SCN1A SCN1B SCN2A SCN9A SGCE SLC6A1 STXBP1 CACNB4 CERS1 PCDH19
More info about this panelOPTIC ATROPHY NGS PANEL Panel
By Laboratorio de Genetica Clinica SL OPTIC ATROPHY NGS PANEL that also includes the following genes: SPG7 ACO2 TIMM8A WFS1 MFN2 RTN4IP1 CISD2 SLC25A46 TMEM126A C12orf65
More info about this panelSpastic paraplegia panel, autosomal dominant Panel
By LifeLabs Genetics Spastic paraplegia panel, autosomal dominant that also includes the following genes: RTN2 ATL1 SPAST BSCL2 NIPA1 REEP1 ZFYVE27 WASHC5 HSPD1 KIF5A
More info about this panelAlpers-Huttenlocher Syndrome, Sequencing POLG Gene Panel
By Reference Laboratory Genetics
This panel specifically test the POLG gene.
More info about this panelAlpers-Huttenlocher Syndrome, Deletions-Duplications (MLPA) POLG Gene Panel
By Reference Laboratory Genetics
This panel specifically test the POLG gene.
More info about this panelAtaxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes Panel
By Reference Laboratory Genetics Ataxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 SPTBN2 TBP TTPA VLDLR CACNA1A
More info about this panelFamilial Hemiplegic Migraine , Panel Massive Sequencing (NGS) 6 Genes Panel
By Reference Laboratory Genetics Familial Hemiplegic Migraine , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: SCN1A SLC2A1 CACNA1A NOTCH3 ATP1A2 POLG
More info about this panelProgressive External Ophthalmoplegia , Panel Massive Sequencing (NGS) 7 Genes Panel
By Reference Laboratory Genetics Progressive External Ophthalmoplegia , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: SLC25A4 TWNK ROBO3 RRM2B OPA1 POLG POLG2
More info about this panelMitochondrial DNA Depletion Syndrome , Panel Massive Sequencing (NGS) 14 Genes Panel
By Reference Laboratory Genetics Mitochondrial DNA Depletion Syndrome , Panel Massive Sequencing (NGS) 14 Genes that also includes the following genes: SLC25A4 SUCLA2 SUCLG1 TWNK TK2 MFN2 RRM2B DGUOK TYMP GFER
More info about this panelPOLG-Related Disorders: gene sequencing Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the POLG gene.
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