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

SOURCES: OMIM ORPHANET

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

SOURCES: OMIM ORPHANET

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). Genetic Heterogeneity of Autosomal Recessive External Ophthalmoplegia with Mitochondrial DNA DeletionsSee also PEOB2 (OMIM ), caused by mutation in the RNASEH1 gene (OMIM ) on chromosome 2p25; PEOB3 (OMIM ), caused by mutation in the TK2 gene (OMIM ) on chromosome 16q21; PEOB4 (OMIM ), caused by mutation in the DGUOK gene (OMIM ) on chromosome 2p13; and PEOB5 (OMIM ), caused by mutation in the TOP3A gene (OMIM ) on chromosome 17p11.

Most common symptoms of AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

  • Seizures
  • Hearing impairment
  • Ataxia
  • Muscle weakness
  • Cataract


More info about AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

SOURCES: OMIM ORPHANET

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

SOURCES: OMIM ORPHANET

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). Genetic Heterogeneity of Autosomal Dominant Progressive External Ophthalmoplegia with DNA DeletionsSee also PEOA2 (OMIM ), caused by mutation in the ANT1 gene (SLC25A4 ) on chromosome 4q34; PEOA3 (OMIM ), caused by mutation in the twinkle gene (C10ORF2 ) on chromosome 10q24; PEOA4 (OMIM ), caused by mutation in the POLG2 gene (OMIM ) on chromosome 17q; PEOA5 (OMIM ), caused by mutation in the RRM2B gene (OMIM ) on chromosome 8q23; and PEOA6 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q.

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

SOURCES: OMIM ORPHANET

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


Potential gene panels for POLG gene

MitoMet®Plus aCGH Analysis Panel

United States.

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
United States.

POLG Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the POLG gene.

More info about this panel
United States.

POLG Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the POLG gene.

More info about this panel
United States.

POLG Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the POLG gene.

More info about this panel
United States.

POLG Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the POLG gene.

More info about this panel
United States.

mtDNA Depletion/Integrity Panel (MitomeNGS) Panel

United States.

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 panel
United States.

PEO Panel (MitomeNGS) Panel

United States.

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 panel
United States.

GeneAware Complete Panel Version 2 (Female) Panel

United States.

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 panel
United States.

GeneAware Complete Panel Version 2 (Male) Panel

United States.

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 panel
United States.

Progressive External Ophthalmoplegia Evaluation (POLG, TWINKLE, ANT1, OPA1, MELAS) Panel

United States.

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 panel
United States.

Mitochondrial Hepatoencephalopathic Evaluation (POLG, DGUOK, MPV17, TWINKLE) Panel

United States.

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 panel
United States.

POLG DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the POLG gene.

More info about this panel
United States.

Common Mitochondrial Disorders Evaluation (POLG, MELAS, MERRF, NARP) Panel

United States.

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 panel
United States.

POLG DNA Sequencing Test (Alpers' Syndrome) Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the POLG gene.

More info about this panel
United States.

Miochondrial Encephalomyopathic Evaluation (TK2, RRM2B, POLG) Panel

United States.

By Athena Diagnostics Inc Miochondrial Encephalomyopathic Evaluation (TK2, RRM2B, POLG) that also includes the following genes: TK2 RRM2B POLG

More info about this panel
United States.

MIRAS-Specific POLG1 DNA Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the POLG gene.

More info about this panel
United States.

Ataxia, Supplemental Recessive Evaluation Panel

United States.

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 panel
United States.

Ataxia, Complete Recessive Evaluation Panel

United States.

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 panel
United States.

Ataxia, Comprehensive Evaluation Panel

United States.

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 panel
United States.

Epilepsy Advanced Sequencing and CNV Evaluation Panel

United States.

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
United States.

Epilepsy Advanced Sequencing and CNV Evaluation - Epilepsy with Migraine Panel

United States.

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 panel
United States.

NGS Epilepsy/Seizure Panel Panel

United States.

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
United States.

POLG1-related disorders Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center

This panel specifically test the POLG gene.

More info about this panel
United States.

Optic Atrophy and Early Glaucoma Panel Panel

United States.

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 panel
United States.

Mitochondrial Depletion Panel Panel

United States.

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 panel
United States.

Neuromuscular Disorders Panel Panel

United States.

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 panel
United States.

NGS Rhabdomyolysis and Metabolic Myopathies Panel Panel

United States.

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 panel
United States.

NGS Rhabdomyolysis and Metabolic Myopathies Panel Panel

United States.

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 panel
United States.

POLG-Related Disorders - Sequencing Panel

United States.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado

This panel specifically test the POLG gene.

More info about this panel
United States.

POLG-Related Disorders - Del/Dup Analysis Panel

United States.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado

This panel specifically test the POLG gene.

More info about this panel
United States.

Childhood Epilepsy Panel

United States.

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 panel
United States.

Comprehensive Mitochondrial Metabolic Panel Panel

United States.

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
United States.

Epilepsy/Seizure Panel

United States.

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 panel
United States.

Infantile Epilepsy Panel

United States.

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 panel
United States.

Migraine and Strokes Panel Panel

United States.

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 panel
United States.

Movement Disorders Panel Panel

United States.

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 panel
United States.

Parkinson's Disease Panel

United States.

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 panel
United States.

Progressive External Opthalmoplegia Panel

United States.

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 panel
United States.

POLG1 Sequencing Panel

United States.

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 panel
United States.

POLG1 Deletion/duplication analysis Panel

United States.

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 panel
United States.

Liver Diseases Deletion/duplication panel Panel

United States.

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 panel
United States.

Liver Diseases Panel by next-generation sequencing (NGS) Panel

United States.

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 panel
United States.

Early Infantile Epileptic Encephalopathy Panel Panel

United States.

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 panel
United States.

Dystonia Exome Panel Panel

United States.

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 panel
United States.

Ataxia Exome Panel Panel

United States.

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
United States.

Epilepsy Panel - Comprehensive Panel

Argentina.

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 panel
Argentina.

Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel

United States.

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
United States.

Comprehensive Epilepsy Panel Panel

United States.

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 panel
United States.

STAT Epilepsy Panel Panel

United States.

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 panel
United States.

Infantile Epilepsy Panel Panel

United States.

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 panel
United States.

Childhood-Onset Epilepsy Panel Panel

United States.

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 panel
United States.

CustomNext: Neuro Panel

United States.

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
United States.

Neurodevelopment-Expanded Panel

United States.

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
United States.

EpilepsyNext Panel

United States.

By Ambry Genetics EpilepsyNext that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC9A6 SMC1A

More info about this panel
United States.

EpiRapid Panel

United States.

By Ambry Genetics EpiRapid that also includes the following genes: SCN1A SCN8A SLC2A1 STXBP1 TSC1 TSC2 PCDH19 KCNT1 PNPO PRRT2

More info about this panel
United States.

EpiRapid reflex EpilepsyNext Panel

United States.

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 panel
United States.

POLG. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the POLG gene.

More info about this panel
Spain.

POLG. Detection of the mutations p.Thr251Ile, p.Ala467Thr, p. Pro587Leu, p.Trp748Ser and p.Gly848Ser by sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the POLG gene.

More info about this panel
Spain.

MECP2, SCN1B, GABRG2, LGI1, POLG, POLG2, SLC25A22, SPTAN1, SRPX2. NextGeneDx.Complete sequencing by NGS Panel

Spain.

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 panel
Spain.

Mitochondrial DNA depletion syndrome 4A-Alpers/4B-MNGIE (sequence analysis of POLG gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the POLG gene.

More info about this panel
Portugal.

Autosomal Recessive Progressive External Ophthalmoplegia (sequence analysis of POLG gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the POLG gene.

More info about this panel
Portugal.

Progressive external ophthalmoplegia (sequence analysis of POLG gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the POLG gene.

More info about this panel
Portugal.

Childhood Myocerebrohepatopathy Spectrum Disorders (sequence analysis of POLG gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the POLG gene.

More info about this panel
Portugal.

Mitochondrial DNA depletion syndrome 4A/4B (mutations A467T, W748S and G848S on POLG gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the POLG gene.

More info about this panel
Portugal.

Myoclonic Epilepsy Myopathy Sensory Ataxia (sequence analysis of POLG gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the POLG gene.

More info about this panel
Portugal.

POLG-Related Ataxia Neuropathy Spectrum Disorders (sequence analysis of POLG gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the POLG gene.

More info about this panel
Portugal.

Spinocerebellar ataxia with epilepsy (sequence analysis of POLG gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the POLG gene.

More info about this panel
Portugal.

Hereditary ataxias (NGS panel for 44 genes) Panel

Portugal.

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 panel
Portugal.

Parkinson disease (NGS panel for 33 genes) Panel

Portugal.

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 panel
Portugal.

Sensory ataxic neuropathy, dysarthria and ophthalmoparesis (SANDO, sequence analysis of POLG gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the POLG gene.

More info about this panel
Portugal.

Mitochondrial DNA depletion syndrome 4A-Alpers/4B-MNGIE (deletion/duplication analysis of POLG gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the POLG gene.

More info about this panel
Portugal.

Progressive external ophthalmoplegia (NGS panel of 12 genes) Panel

Portugal.

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 panel
Portugal.

Mitochondrial DNA depletion syndrome 4A-Alpers/4B-MNGIE (deletion/duplication analysis of POLG gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the POLG gene.

More info about this panel
Portugal.

Progressive external ophthalmoplegia (NGS panel of 12 genes) Panel

Portugal.

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 panel
Portugal.

POLG Sequence Analysis Panel

Netherlands.

By Translational Metabolic Laboratory Radboud University Medical Centre

This panel specifically test the POLG gene.

More info about this panel
Netherlands.

POLG-Related Disorders Panel

Poland.

By Laboratory of Genetics BioTe21 Adam Master

This panel specifically test the POLG gene.

More info about this panel
Poland.

Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection Panel

United States.

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 panel
United States.

POLG-Related Mitochondrial Disorders via POLG Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the POLG gene.

More info about this panel
United States.

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

United States.

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 panel
United States.

Hereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection Panel

United States.

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 panel
United States.

Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel with CNV Detection Panel

United States.

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 panel
United States.

Optic Atrophy Sequencing Panel with CNV Detection Panel

United States.

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 panel
United States.

Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel

United States.

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 panel
United States.

Mitochondrial Complex I Deficiency Sequencing Panel with CNV Detection (Nuclear Genes) Panel

United States.

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
United States.

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel Panel

United States.

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 panel
United States.

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

United States.

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 panel
United States.

Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel

United States.

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
United States.

Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel

United States.

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
United States.

Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection Panel

United States.

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 panel
United States.

Neuropathy Panel

Germany.

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 panel
Germany.

POLG-Related Disorders Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the POLG gene.

More info about this panel
Germany.

Kearns Sayre syndrome Panel

Germany.

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 panel
Germany.

Mitochondrial Depletion Panel

Germany.

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 panel
Germany.

Mitochondrial Ataxia Panel

Germany.

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 panel
Germany.

Combined Respiratory Chain Defects Panel

Germany.

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 panel
Germany.

Vascular and connective tissue diseases - panels Panel

Germany.

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 panel
Germany.

Hepatic and pancreatic diseases - panels Panel

Germany.

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 panel
Germany.

Neurogenetic Disorders - panels Panel

Germany.

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
Germany.

Epileptic Encephalopathy Panel

Germany.

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 panel
Germany.

Epileptic Encephalopathy – Basic Diagnostics Panel

Germany.

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 panel
Germany.

Progressive Myoclonic Epilepsy Panel

Germany.

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 panel
Germany.

Ataxia Panel

Germany.

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 panel
Germany.

Mitochondrial Encephalopathy / Leigh Syndrome – Basic Diagnostic Panel

Germany.

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 panel
Germany.

Epilepsy and Mitochondrial Encephalopathy Panel

Germany.

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
Germany.

Mitochondrial Diseases Panel

Germany.

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
Germany.

Mitochondrial Myopathy Panel

Germany.

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 panel
Germany.

Mitochondriopathy – Chronic Progressive External Ophthalmoplegia (CPEO) Panel

Germany.

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 panel
Germany.

Muscle Disease with Ptosis / External Ophthalmoplegia Panel

Germany.

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 panel
Germany.

Mitochondrial Hepato(encephalo)pathy and Phenocopies Panel

Germany.

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 panel
Germany.

Mitochondrial Encephalopathy Panel

Germany.

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
Germany.

Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

Germany.

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 panel
Germany.

Epilepsy Panel

Germany.

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
Germany.

Teenager Stroke / Stroke-Like Episodes Panel

Germany.

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 panel
Germany.

Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) Panel

Germany.

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 panel
Germany.

Mitochondrial DNA depletion syndrome 4A (Alpers type) Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the POLG gene.

More info about this panel
Germany.

Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the POLG gene.

More info about this panel
Germany.

Progressive external ophthalmoplegia with mitochondrial deletions autosomal recessive Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the POLG gene.

More info about this panel
Germany.

Comprehensive mitochondrial disorders panel Panel

Germany.

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
Germany.

Mitochondrial dysfunctions panel Panel

Germany.

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 panel
Germany.

AllNeuro panel Panel

Germany.

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
Germany.

CentoICU platinum plus Panel

Germany.

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 panel
Germany.

New Born testing (CentoICU) Panel

Germany.

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 panel
Germany.

Progressive external ophthalmoplegia with mitochondrial deletions, autosomal recessive Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the POLG gene.

More info about this panel
Germany.

Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the POLG gene.

More info about this panel
Germany.

Progressive external ophthalmoplegia with mitochondrial deletions type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the POLG gene.

More info about this panel
Germany.

Sensory ataxic neuropathy dysarthria, and ophthalmoparesis Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the POLG gene.

More info about this panel
Germany.

Comprehensive mtDNA Depletion Syndromes NGS Panel Panel

United States.

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 panel
United States.

Migraine Panel Panel

Germany.

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 panel
Germany.

Parkinson all Panel Panel

Germany.

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 panel
Germany.

Congenital and Distal Myopathies Panel Panel

Germany.

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 panel
Germany.

Nuclear encoded Mitochondriopathies Panel Panel

Germany.

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
Germany.

Ataxia and differential diagnoses Panel Panel

Germany.

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 panel
Germany.

Atypical Parkinson syndrome Panel Panel

Germany.

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 panel
Germany.

Basal ganglia calcification Panel Panel

Germany.

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 panel
Germany.

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel

Germany.

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
Germany.

Charcot-Marie-Tooth and Sensory Neuropathies Panel Panel

Germany.

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 panel
Germany.

Single gene testing POLG Panel

Germany.

By CeGaT GmbH

This panel specifically test the POLG gene.

More info about this panel
Germany.

POLG-Related Disorders Panel

Sweden.

By Centre for Inherited Metabolic Diseases Karolinska University Hospital

This panel specifically test the POLG gene.

More info about this panel
Sweden.

Mitochondrial Diseases (mtDNA and 133 nuclear genes) Panel

Estonia.

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
Estonia.

Charcot-Marie-Tooth Disease Panel

Estonia.

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 panel
Estonia.

Epilepsy Panel

Estonia.

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 panel
Estonia.

Metabolic Myopathy and Rhabdomyolysis Panel

Estonia.

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 panel
Estonia.

POLG-Related Disorders Panel

Netherlands.

By Clinical Genomics Maastricht University Medical Centre

This panel specifically test the POLG gene.

More info about this panel
Netherlands.

Alpers-Huttenlocher syndrome Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the POLG gene.

More info about this panel
Austria.

Mitochondrial DNA depletion syndrome 4A (Alpers type) Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the POLG gene.

More info about this panel
Austria.

Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the POLG gene.

More info about this panel
Austria.

Mitochondrial DNA depletion syndrome 4B (MNGIE type) Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the POLG gene.

More info about this panel
Austria.

Ophthalmoplegia, progressive external 1 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the POLG gene.

More info about this panel
Austria.

Ophthalmoplegia, progressive external 1 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the POLG gene.

More info about this panel
Austria.

Alpers-Huttenlocher syndrome Panel

Slovakia.

By MedGene

This panel specifically test the POLG gene.

More info about this panel
Slovakia.

Mitochondrial DNA depletion syndrome 4A (Alpers type) Panel

Slovakia.

By MedGene

This panel specifically test the POLG gene.

More info about this panel
Slovakia.

Mitochondrial DNA depletion syndrome 4B (MNGIE type) Panel

Slovakia.

By MedGene

This panel specifically test the POLG gene.

More info about this panel
Slovakia.

Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) Panel

Slovakia.

By MedGene

This panel specifically test the POLG gene.

More info about this panel
Slovakia.

Ophthalmoplegia, progressive external 1 Panel

Slovakia.

By MedGene

This panel specifically test the POLG gene.

More info about this panel
Slovakia.

Ophthalmoplegia, progressive external 1 Panel

Slovakia.

By MedGene

This panel specifically test the POLG gene.

More info about this panel
Slovakia.

Invitae Organic Acidemias Panel Panel

United States.

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 panel
United States.

Invitae Epilepsy Panel Panel

United States.

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 panel
United States.

Alpers-Huttenlocher syndrome: POLG gene screening Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the POLG gene.

More info about this panel
Spain.

Alpers-Huttenlocher syndrome: POLG gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the POLG gene.

More info about this panel
Spain.

MIGRAINE Panel

Spain.

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 panel
Spain.

Spinocerebellar ataxia Panel

Spain.

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 panel
Spain.

Ataxia Panel

Spain.

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 panel
Spain.

Optic atrophy Panel

Spain.

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 panel
Spain.

NGS panel - Parkinson Panel

Netherlands.

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 panel
Netherlands.

Epilepsy and Seizure Disorders: Sequencing Panel Panel

United States.

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
United States.

Hereditary Neuropathies: Sequencing Panel Panel

United States.

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 panel
United States.

Neurology: Sequencing Panel Panel

United States.

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 panel
United States.

Inherited Metabolic Disorders: Sequencing Panel Panel

United States.

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 panel
United States.

Neonatal and Adult Cholestasis: Sequencing Panel Panel

United States.

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 panel
United States.

Epilepsy and Seizure Disorders: Deletion/Duplication Panel Panel

United States.

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
United States.

Hereditary Neuropathies: Deletion/Duplication Panel Panel

United States.

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 panel
United States.

Epilepsy NGS Panel Panel

United States.

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
United States.

Lactic Acidosis-Pyruvate NGS Panel Panel

United States.

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 panel
United States.

Migraine NGS Panel Panel

United States.

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 panel
United States.

Myopathy-Rhabdomyolysis NGS Panel Panel

United States.

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 panel
United States.

Mitochondrial DNA Depletion Syndromes NGS Panel Panel

United States.

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 panel
United States.

Parkinson-Alzheimer-Dementia NGS Panel Panel

United States.

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 panel
United States.

Nuclear-Mito NGS Panel Panel

United States.

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
United States.

mtDNA Depletion Syndrome NGS Panel Panel

United States.

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 panel
United States.

Hemiplegia/Stroke NGS Panel Panel

United States.

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 panel
United States.

POLG Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the POLG gene.

More info about this panel
United States.

Essential Epilepsy NGS Panel Panel

United States.

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 panel
United States.

Early-Onset Epileptic Encephalopathy NGS Panel Panel

United States.

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 panel
United States.

Comprehensive Epilepsy NGS Panel Panel

United States.

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
United States.

NCL and Progressive Myoclonic Epilepsy Panel Panel

Finland.

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 panel
Finland.

Ataxia Panel Panel

Finland.

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 panel
Finland.

Comprehensive Muscular Dystrophy / Myopathy Panel Panel

Finland.

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 panel
Finland.

Neuro-Ophthalmology Panel Panel

Finland.

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 panel
Finland.

Charcot-Marie-Tooth Neuropathy Panel Panel

Finland.

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 panel
Finland.

Premature Ovarian Failure Panel Panel

Finland.

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 panel
Finland.

Optic Atrophy Panel Panel

Finland.

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 panel
Finland.

Comprehensive Metabolism Panel Panel

Finland.

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 panel
Finland.

Metabolic Epilepsy Panel Panel

Finland.

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 panel
Finland.

Epileptic Encephalopathy Panel Panel

Finland.

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 panel
Finland.

Metabolic Myopathy and Rhabdomyolysis Panel Panel

Finland.

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 panel
Finland.

Mitochondrial DNA Depletion Syndrome Panel Panel

Finland.

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 panel
Finland.

Migraine Panel Panel

Finland.

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 panel
Finland.

Comprehensive Epilepsy Panel Panel

Finland.

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 panel
Finland.

Idiopathic Generalized and Focal Epilepsy Panel Panel

Finland.

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 panel
Finland.

Progressive external ophthalmoplegia, autosomal dominant Panel

Spain.

By Bioarray

This panel specifically test the POLG gene.

More info about this panel
Spain.

POLG Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the POLG gene.

More info about this panel
United States.

Next Generation Sequencing for Jaundice Associated Genes Variation Test Panel

Taiwan.

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 panel
Taiwan.

MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM Panel

Spain.

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 panel
Spain.

ALPERS-HUTTENLOCHER SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the POLG gene.

More info about this panel
Spain.

MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY (MNGIE) Panel

Spain.

By Laboratorio de Genetica Clinica SL MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY (MNGIE) that also includes the following genes: RRM2B TYMP POLG

More info about this panel
Spain.

SENSORY ATAXIC NEUROPATHY - DYSARTHRIA - OPHTHALMOPARESIS (SANDO) Panel

Spain.

By Laboratorio de Genetica Clinica SL SENSORY ATAXIC NEUROPATHY - DYSARTHRIA - OPHTHALMOPARESIS (SANDO) that also includes the following genes: TWNK POLG

More info about this panel
Spain.

OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL (PEO) Panel

Spain.

By Laboratorio de Genetica Clinica SL OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL (PEO) that also includes the following genes: SLC25A4 TWNK POLG POLG2

More info about this panel
Spain.

SPINOCEREBELLAR ATAXIA NGS PANEL Panel

Spain.

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 panel
Spain.

PROGRESSIVE MYOCLONIC EPILEPSY/GEFs+ NGS PANEL Panel

Spain.

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 panel
Spain.

OPTIC ATROPHY NGS PANEL Panel

Spain.

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 panel
Spain.

Spastic paraplegia panel, autosomal dominant Panel

Canada.

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 panel
Canada.

Alpers-Huttenlocher Syndrome, Sequencing POLG Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the POLG gene.

More info about this panel
Spain.

Alpers-Huttenlocher Syndrome, Deletions-Duplications (MLPA) POLG Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the POLG gene.

More info about this panel
Spain.

Ataxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes Panel

Spain.

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 panel
Spain.

Familial Hemiplegic Migraine , Panel Massive Sequencing (NGS) 6 Genes Panel

Spain.

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 panel
Spain.

Progressive External Ophthalmoplegia , Panel Massive Sequencing (NGS) 7 Genes Panel

Spain.

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 panel
Spain.

Mitochondrial DNA Depletion Syndrome , Panel Massive Sequencing (NGS) 14 Genes Panel

Spain.

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 panel
Spain.

POLG-Related Disorders: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the POLG gene.

More info about this panel
Canada.

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