SUCLA2 gene related symptoms and diseases
All the information presented here about the SUCLA2 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 SUCLA2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Respiratory insufficiency due to muscle weakness | Very Common - Between 80% and 100% cases |
| Ophthalmoplegia | Very Common - Between 80% and 100% cases |
| Abnormality of movement | Very Common - Between 80% and 100% cases |
| Lactic acidosis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SUCLA2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Inability to walk
- Polyneuropathy
- Aciduria
- Peripheral demyelination
- Cerebral calcification
- Generalized-onset seizure
- Progressive neurologic deterioration
- Generalized hirsutism
And 55 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SUCLA2 gene
Here you will find a list of rare diseases related to the SUCLA2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH METHYLMALONIC ACIDURIA
Alternate names
MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH METHYLMALONIC ACIDURIA Is also known as mtdna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, mitochondrial encephalomyopathy-aminoacidopathy syndrome, booth-haworth-dilling syndrome, mitochondrial dna depletion syndrome, encephalomyopathic form, with or without methylmalo
Description
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA.
Most common symptoms of MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH METHYLMALONIC ACIDURIA
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
- Hearing impairment
More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH METHYLMALONIC ACIDURIA
Search interest in SUCLA2
Potential gene panels for SUCLA2 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.
SUCLA2 Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the SUCLA2 gene.
More info about this panel United States.
SUCLA2 Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the SUCLA2 gene.
More info about this panel United States.
SUCLA2 Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the SUCLA2 gene.
More info about this panel United States.
SUCLA2 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the SUCLA2 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.
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN9A ST3GAL5 SLC2A1 SLC35A2 SLC6A1
More info about this panel 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.
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.
Methylmalonic Acidemia Sequencing NextGen Panel Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado Methylmalonic Acidemia Sequencing NextGen Panel that also includes the following genes: SUCLA2 TCN1 TCN2 CBS CD320 MCEE MMAA MMAB ACSF3 CBLIF
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.
Dystonia Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dystonia that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH
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.
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.
Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication that also includes the following genes: SUCLA2 SUCLG1 TCN1 TCN2 AMN CBS MCEE MMAA MMAB LMBRD1
More info about this panel United States.
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.
Audiome (hearing loss panel) Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Audiome (hearing loss panel) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 SUCLA2 TECTA TIMM8A TMPRSS3 USH1C
More info about this panel United States.
Mitochondrial DNA depletion syndrome 5 (sequence analysis of SUCLA2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SUCLA2 gene.
More info about this panel Portugal.
Methylmalonic aciduria (NGS panel for 15 genes) Panel
Portugal.
By CGC Genetics Methylmalonic aciduria (NGS panel for 15 genes) that also includes the following genes: SUCLA2 SUCLG1 CD320 MCEE MMAA MMAB LMBRD1 MMACHC MMADHC ACSF3
More info about this panel Portugal.
SUCLA2 Sequence Analysis Panel
Netherlands.
By Translational Metabolic Laboratory Radboud University Medical Centre
This panel specifically test the SUCLA2 gene.
More info about this panel Netherlands.
SUCLA2 deficiency Panel
Netherlands.
By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center
This panel specifically test the SUCLA2 gene.
More info about this panel Netherlands.
Methylmalonic Acidemia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Methylmalonic Acidemia Sequencing Panel with CNV Detection that also includes the following genes: SUCLA2 SUCLG1 CD320 MCEE MMAA MMAB MMADHC ACSF3 MLYCD ALDH6A1
More info about this panel United States.
SUCLA2 -Related Encephalomyopathic Form of Mitochondrial DNA Depletion Syndrome via SUCLA2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SUCLA2 gene.
More info about this panel United States.
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel with CNV Detection that also includes the following genes: SUCLA2 SUCLG1 TCN1 TCN2 AMN CBS CD320 MCEE MMAA MMAB
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.
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.
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.
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.
Hereditary kidney disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel Germany.
SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the SUCLA2 gene.
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.
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.
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.
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 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.
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.
Mitochondrial Deafness Panel
Germany.
By MGZ Medical Genetics Center Mitochondrial Deafness that also includes the following genes: SUCLA2 SUCLG1 TIMM8A WFS1 RMND1 PNPT1 HARS2 SLC33A1
More info about this panel Germany.
Mitochondrial DNA depletion syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SUCLA2 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.
Mitochondrial DNA depletion syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SUCLA2 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.
Hereditary Degenerative Syndromes Panel Panel
Germany.
By CeGaT GmbH Hereditary Degenerative Syndromes Panel that also includes the following genes: ATXN2 ATXN7 SLC16A2 SLC25A15 SLC6A3 SMPD1 SUCLA2 TAF1 TBP TIMM8A
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.
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.
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.
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.
Methylmalonic Aciduria and Homocystinuria Panel
Estonia.
By Asper Biogene Asper Biogene LLC Methylmalonic Aciduria and Homocystinuria that also includes the following genes: SUCLA2 SUCLG1 TCN1 TCN2 AMN CBS CD320 MCEE MMAA MMAB
More info about this panel Estonia.
SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria Panel
Netherlands.
By Clinical Genomics Maastricht University Medical Centre
This panel specifically test the SUCLA2 gene.
More info about this panel Netherlands.
Mitochondrial DNA Deletion Syndrome 5 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the SUCLA2 gene.
More info about this panel Austria.
SUCLA2 Gene Sequencing Panel
Colombia.
By GENETIX Centro de Investigación en Genética Humana y Reproductiva
This panel specifically test the SUCLA2 gene.
More info about this panel Colombia.
qCarrier Plus Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panel Spain.
Mitochondrial DNA Deletion Syndrome 5 Panel
Slovakia.
By MedGene
This panel specifically test the SUCLA2 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 Methylmalonic Acidemia Panel Panel
United States.
By Invitae Invitae Methylmalonic Acidemia Panel that also includes the following genes: SUCLA2 SUCLG1 MCEE MMAA MMAB MMADHC MMUT
More info about this panel United States.
Invitae Metabolic Disorders Newborn Screening Confirmation Panel Panel
United States.
By Invitae Invitae Metabolic Disorders Newborn Screening Confirmation Panel that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SMPD1 BTD SPR SUCLA2 SUCLG1 TAT TAZ
More info about this panel United States.
Dystonia: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dystonia: Sequencing Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH
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.
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.
Methylmalonic Acid Metabolism NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Methylmalonic Acid Metabolism NGS Panel that also includes the following genes: SUCLA2 SUCLG1 TCN2 CD320 MCEE MMAA MMAB LMBRD1 MMACHC MMADHC
More info about this panel United States.
TCA Cycle NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics TCA Cycle NGS Panel that also includes the following genes: SUCLA2 SUCLG1 ACO2 PDHX DLAT FH IDH1 IDH2 IDH3B MDH1
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.
SUCLA2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SUCLA2 gene.
More info about this panel United States.
Comprehensive Hearing Loss and Deafness Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel that also includes the following genes: BCS1L RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10
More info about this panel Finland.
Hyperammonemia and Urea Cycle Disorder Panel Panel
Finland.
By Blueprint Genetics Hyperammonemia and Urea Cycle Disorder Panel that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SLC7A7 SUCLA2 SUCLG1 UMPS SLC25A20 NBAS NAGS
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 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.
MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM Panel
Spain.
By Laboratorio de Genetica Clinica SL MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM that also includes the following genes: SUCLA2 FBXL4 RRM2B
More info about this panel Spain.
METHYLMALONIC ACIDEMIA: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL METHYLMALONIC ACIDEMIA: NGS PANEL that also includes the following genes: SUCLA2 SUCLG1 CD320 MCEE MMAA MMAB LMBRD1 MMACHC MMADHC ACSF3
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.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ATP4A