SCO2 gene related symptoms and diseases
All the information presented here about the SCO2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SCO2 gene
Symptoms // Phenotype | % Cases |
---|---|
Myopia | Rare - less than 30% cases |
Gliosis | Rare - less than 30% cases |
Neuronal loss in basal ganglia | Rare - less than 30% cases |
Limited extraocular movements | Rare - less than 30% cases |
Inspiratory stridor | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with SCO2 gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Breathing dysregulation
- Increased CSF lactate
- Stridor
- Ragged-red muscle fibers
- Spontaneous abortion
- Cardiomegaly
- Neuronal loss in central nervous system
- Increased serum lactate
And 15 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SCO2 gene
Here you will find a list of rare diseases related to the SCO2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MYOPIA 6; MYP6
Description
Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).For a discussion of genetic heterogeneity of susceptibility to myopia, see {160700}.
Most common symptoms of MYOPIA 6; MYP6
- Myopia
More info about MYOPIA 6; MYP6
FATAL INFANTILE CYTOCHROME C OXIDASE DEFICIENCY
Alternate names
FATAL INFANTILE CYTOCHROME C OXIDASE DEFICIENCY Is also known as fatal infantile cox deficiency, fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency, cytochrome c oxidase deficiency, fatal infantile, with cardioencephalomyopathy
Description
Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.
Most common symptoms of FATAL INFANTILE CYTOCHROME C OXIDASE DEFICIENCY
- Seizures
- Global developmental delay
- Generalized hypotonia
- Nystagmus
- Muscular hypotonia
More info about FATAL INFANTILE CYTOCHROME C OXIDASE DEFICIENCY
AUTOSOMAL RECESSIVE AXONAL CHARCOT-MARIE-TOOTH DISEASE DUE TO COPPER METABOLISM DEFECT
LEIGH SYNDROME WITH CARDIOMYOPATHY
Alternate names
LEIGH SYNDROME WITH CARDIOMYOPATHY Is also known as leigh disease with myopathy, cardiomyopathy with myopathy due to cox deficiency, cardiomyopathy with hypotonia due to cytochrome c oxidase deficiency
More info about LEIGH SYNDROME WITH CARDIOMYOPATHY
SOURCES: ORPHANET
RARE ISOLATED MYOPIA
Description
Rare isolated myopia is a rare, genetic, refraction anomaly disorder characterized by non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness.
More info about RARE ISOLATED MYOPIA
SOURCES: ORPHANET
Search interest in SCO2
Potential gene panels for SCO2 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 panelSCO2 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the SCO2 gene.
More info about this panelSCO2 Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the SCO2 gene.
More info about this panelSCO2 Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the SCO2 gene.
More info about this panelSCO2 Sequence Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the SCO2 gene.
More info about this panelCardiomyopathy Panel Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Cardiomyopathy Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SCO2 SGCD SKI BRAF SNTA1 SOS1
More info about this panelHypertrophic Cardiomyopathy Panel Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Hypertrophic Cardiomyopathy Panel that also includes the following genes: SCO2 SURF1 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR VCL
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 panelRespiratory Chain Deficiency Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Respiratory Chain Deficiency that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SURF1 UQCRB LRPPRC
More info about this panelHypertrophic Cardiomyopathy Panel (23 genes) Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hypertrophic Cardiomyopathy Panel (23 genes) that also includes the following genes: SCO2 SURF1 TNNC1 TNNI3 TNNT2 TPM1 TTR VCL ACTC1 CAV3
More info about this panelComprehensive Cardiomyopathy Panel (37 genes) Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Comprehensive Cardiomyopathy Panel (37 genes) that also includes the following genes: SCN5A SCO2 SGCD SURF1 TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1
More info about this panelSCO2 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 SCO2 gene.
More info about this panelCardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication Panel
By ARUP Laboratories, Molecular Genetics and Genomics Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCA SGCB SGCD SGCG
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 panelFatal Infantile Cardioencephalomyopathy due to Cytochrome c Oxidase deficiency Panel
By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children
This panel specifically test the SCO2 gene.
More info about this panelCardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (sequence analysis of SCO2 gene) Panel
By CGC Genetics
This panel specifically test the SCO2 gene.
More info about this panelSpinal muscular atrophy (NGS panel for 21 genes) Panel
By CGC Genetics Spinal muscular atrophy (NGS panel for 21 genes) that also includes the following genes: SCO2 UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2 EXOSC8 BICD2 TRPV4
More info about this panelSCO2 Sequence Analysis Panel
By Translational Metabolic Laboratory Radboud University Medical Centre
This panel specifically test the SCO2 gene.
More info about this panelFatal Infantile Cardioencephalomyopathy due to Cytochrome c Oxidase Deficiency Panel
By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine
This panel specifically test the SCO2 gene.
More info about this panelLeigh Syndrome (nuclear DNA mutation) Panel
By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine Leigh Syndrome (nuclear DNA mutation) that also includes the following genes: SCO2 SURF1
More info about this panelComprehensive Cardiology Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Comprehensive Cardiology Sequencing Panel with CNV Detection that also includes the following genes: RYR1 RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCD SGCG BRAF
More info about this panelPan Cardiomyopathy Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Pan Cardiomyopathy Sequencing Panel with CNV Detection that also includes the following genes: RYR2 SCN5A SCO2 SGCD SGCG BRAF SOS1 TAZ TCAP TGFB3
More info about this panelMitochondrial Complex IV Deficiency Sequencing Panel with CNV Detection (Nuclear Genes) Panel
By PreventionGenetics PreventionGenetics Mitochondrial Complex IV Deficiency Sequencing Panel with CNV Detection (Nuclear Genes) that also includes the following genes: SCO1 SCO2 SURF1 LRPPRC COA6 APOPT1 COX15 COX6B1 TACO1 COA3
More info about this panelMitochondrial Complex IV Deficiency via SCO2 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the SCO2 gene.
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 panelHypertrophic Cardiomyopathy Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hypertrophic Cardiomyopathy Sequencing Panel with CNV Detection that also includes the following genes: RYR2 SCO2 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR VCL
More info about this panelMental retardation - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panelLeigh Syndrome Panel
By MGZ Medical Genetics Center Leigh Syndrome that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SURF1 LRPPRC SLC19A3
More info about this panelNewborn: Cardiomyopathy as presenting sign Panel
By MGZ Medical Genetics Center Newborn: Cardiomyopathy as presenting sign that also includes the following genes: SCO2 SDHA SLC22A5 SLC25A3 TAZ TTN LPIN1 GFM1 SLC25A20 MTO1
More info about this panelMitochondrial Respiratory Chain Complex IV Deficiency (Nuclear Genes) Panel
By MGZ Medical Genetics Center Mitochondrial Respiratory Chain Complex IV Deficiency (Nuclear Genes) that also includes the following genes: SCO1 SCO2 SURF1 COX10 COX15 COX6B1 TACO1 FASTKD2
More info about this panelLeigh Syndrome (nuclear DNA mutation) Panel
By MGZ Medical Genetics Center Leigh Syndrome (nuclear DNA mutation) that also includes the following genes: BCS1L SCO1 SCO2 SDHA SURF1 COX10 COX15 COX6B1 TACO1 NDUFAF2
More info about this panelFatal Infantile Cardioencephalomyopathy due to Cytochrome c Oxidase Deficiency Panel
By MGZ Medical Genetics Center
This panel specifically test the SCO2 gene.
More info about this panelMitochondrial Cardiomyopathy - Sanger Panel
By MGZ Medical Genetics Center Mitochondrial Cardiomyopathy - Sanger that also includes the following genes: SCO2 SLC25A3 MTO1 AARS2 ACAD9 AGK COX15 TMEM70 MT-TL1
More info about this panelHeart Diseases - panels Panel
By MGZ Medical Genetics Center Heart Diseases - panels that also includes the following genes: RIT1 RRAS RYR2 SCN4B SCN5A SCO2 SDHA BMPR2 SGCA SGCB
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 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 Cardiomyopathy Panel
By MGZ Medical Genetics Center Mitochondrial Cardiomyopathy that also includes the following genes: SCO2 SDHA SLC22A5 SLC25A3 TAZ GFM1 SLC25A20 MTO1 AARS2 ACAD9
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 panelInfancy: Cardiomyopathies Panel
By MGZ Medical Genetics Center Infancy: Cardiomyopathies that also includes the following genes: SCO2 SDHA SLC22A5 SLC25A3 TAZ SLC25A20 MTO1 AARS2 ACAD9 AGK
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 panelCardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the SCO2 gene.
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 panelSpinal Muscular Atrophy Panel Panel
By CeGaT GmbH Spinal Muscular Atrophy Panel that also includes the following genes: SCO2 UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2 EXOSC8 BICD2 EXOSC3
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 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 panelSpinal Muscular Atrophy (SMA) Panel Panel
By CeGaT GmbH Spinal Muscular Atrophy (SMA) Panel that also includes the following genes: SCO2 UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2 EXOSC8 BICD2 EXOSC3
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 panelCardiovascular Diseases_General Panel Panel
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panelSkeletal myopathy Panel Panel
By Health in Code Skeletal myopathy Panel that also includes the following genes: SCO2 SDHA SGCA SGCB SGCD SLC22A5 SLC25A3 SLC25A4 SURF1 TAZ
More info about this panelArrhythmia General Panel Panel
By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2
More info about this panelHypertrophic cardiomyopathy extended panel Panel
By Health in Code Hypertrophic cardiomyopathy extended panel that also includes the following genes: MRPL3 RYR2 SCO2 SLC22A5 BRAF SLC25A3 SLC25A4 SOS1 SURF1 TAZ
More info about this panelCardiomyopathies General Panel Panel
By Health in Code Cardiomyopathies General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN5A SCO2 SDHA SGCA SGCB SGCD
More info about this panelLEIGH SYNDROME Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases LEIGH SYNDROME that also includes the following genes: BCS1L SCO2 SURF1 SLC19A3 COX10 COX15 TACO1 COQ2 DLD PDHA1
More info about this panelMitochondrial respiratory chain complex II, III, and IV deficiency Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Mitochondrial respiratory chain complex II, III, and IV deficiency that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SURF1 UQCRB COX4I2
More info about this panelMitochondrial complex IV deficiency Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Mitochondrial complex IV deficiency that also includes the following genes: SCO1 SCO2 SURF1 COX10 COX15 COX6B1 TACO1 COX14 FASTKD2 MT-CO1
More info about this panelMitochondrial Diseases: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Mitochondrial Diseases: Sequencing Panel that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SURF1 UQCRB LRPPRC NDUFAF5
More info about this 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 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 panelSCO2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SCO2 gene.
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 panelCardiomyopathy Panel Panel
By Blueprint Genetics Cardiomyopathy Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SCNN1B SCNN1G SCO2 SDHA SGCA SGCB
More info about this panelArthrogryposes Panel Panel
By Blueprint Genetics Arthrogryposes Panel that also includes the following genes: BIN1 SCO2 TGFB3 TK2 TNNI2 TNNT1 TNNT3 TPM2 TPM3 VPS33B
More info about this panelComprehensive Cardiology Panel Panel
By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA
More info about this panelSpinal Muscular Atrophy Panel Panel
By Blueprint Genetics Spinal Muscular Atrophy Panel that also includes the following genes: SCO2 SMN1 SMN2 TBCE UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2
More info about this panelCYTOCHROME C OXIDASE DEFICIENCY Panel
By Laboratorio de Genetica Clinica SL CYTOCHROME C OXIDASE DEFICIENCY that also includes the following genes: SCO1 SCO2 SURF1 COX10 COX15 COX14 FASTKD2
More info about this panelLEIGH'S SYNDROME (CYTOCHROME C OXIDASE DEFICIENCY) Panel
By Laboratorio de Genetica Clinica SL LEIGH'S SYNDROME (CYTOCHROME C OXIDASE DEFICIENCY) that also includes the following genes: BCS1L SCO2 SDHA SURF1 COX10 COX15 DLD NDUFS1 NDUFS3 NDUFS4
More info about this panelLEIGH SYNDROME: NGS PANEL Panel
By Laboratorio de Genetica Clinica SL LEIGH SYNDROME: NGS PANEL that also includes the following genes: BCS1L SCO2 SDHA SURF1 SLC19A3 COX10 COX15 TACO1 COQ2 DLD
More info about this panelATROPHY, SPINAL MUSCULAR SMN-NEGATIVE NGS PANEL Panel
By Laboratorio de Genetica Clinica SL ATROPHY, SPINAL MUSCULAR SMN-NEGATIVE NGS PANEL that also includes the following genes: SCO2 TBCE UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2 EXOSC8 BICD2
More info about this panelLeigh Syndrome, Panel Massive Sequencing (NGS) 10 Genes Panel
By Reference Laboratory Genetics Leigh Syndrome, Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: BCS1L SCO2 SURF1 SLC19A3 COX10 COX15 TACO1 COQ2 DLD PDHA1
More info about this panelSpinal Muscular Atrophy and related Disorders , Panel Massive Sequencing (NGS) 19 Genes Panel
By Reference Laboratory Genetics Spinal Muscular Atrophy and related Disorders , Panel Massive Sequencing (NGS) 19 Genes that also includes the following genes: SCO2 SMN1 SMN2 UBA1 VAPB VRK1 SLC5A7 BSCL2 TRPV4 REEP1
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