OPA3 gene related symptoms and diseases
All the information presented here about the OPA3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to OPA3 gene
Symptoms // Phenotype | % Cases |
---|---|
Abnormality of extrapyramidal motor function | Very Common - Between 80% and 100% cases |
Visual impairment | Very Common - Between 80% and 100% cases |
Reduced visual acuity | Very Common - Between 80% and 100% cases |
Optic atrophy | Very Common - Between 80% and 100% cases |
Ataxia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with OPA3 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Nystagmus
Not very common - Between 30% and 50% cases
- Abnormality of the nervous system
- Unsteady gait
- Paresthesia
- Muscle cramps
- Posterior subcapsular cataract
- Sensory impairment
- Reduced tendon reflexes
And 48 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to OPA3 gene
Here you will find a list of rare diseases related to the OPA3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
3-METHYLGLUTACONIC ACIDURIA TYPE 3
Alternate names
3-METHYLGLUTACONIC ACIDURIA TYPE 3 Is also known as optic atrophy, infantile, with chorea and spastic paraplegia, mga3, iraqi-jewish 'optic atrophy plus', opa3, autosomal recessive, costeff syndrome, autosomal recessive optic atrophy type 3, optic atrophy 3, autosomal recessive, optic atrophy plus syndrome, autoso
Description
3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.
Most common symptoms of 3-METHYLGLUTACONIC ACIDURIA TYPE 3
- Intellectual disability
- Short stature
- Ataxia
- Nystagmus
- Spasticity
More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 3
AUTOSOMAL DOMINANT OPTIC ATROPHY AND CATARACT
Alternate names
AUTOSOMAL DOMINANT OPTIC ATROPHY AND CATARACT Is also known as optic atrophy and cataract, autosomal dominant, opa3, autosomal dominant, autosomal dominant optic atrophy type 3
Description
Autosomal dominant optic atrophy and cataract (ADOAC) is a form of autosomal dominant optic atrophy (ADOA; see this term) characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. ADOAC is caused by mutations in the OPA3 gene (19q13.32).
Most common symptoms of AUTOSOMAL DOMINANT OPTIC ATROPHY AND CATARACT
- Ataxia
- Nystagmus
- Pain
- Cataract
- Visual impairment
More info about AUTOSOMAL DOMINANT OPTIC ATROPHY AND CATARACT
Search interest in OPA3
Potential gene panels for OPA3 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 panelOPA3 Sequence Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the OPA3 gene.
More info about this panelOPA3 Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the OPA3 gene.
More info about this panelOPA3 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the OPA3 gene.
More info about this panelOPA3 Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the OPA3 gene.
More info about this panelmtDNA Depletion/Integrity Panel (MitomeNGS) Panel
By Baylor Miraca Genetics Laboratories mtDNA Depletion/Integrity Panel (MitomeNGS) that also includes the following genes: SLC25A4 SUCLA2 SUCLG1 SUCLG2 TWNK TK2 MGME1 RRM2B DGUOK TYMP
More info about this panelPEO Panel (MitomeNGS) Panel
By Baylor Miraca Genetics Laboratories PEO Panel (MitomeNGS) that also includes the following genes: SLC25A4 TWNK MGME1 RRM2B OPA1 OPA3 POLG POLG2
More info about this panelOptic Atrophy and Early Glaucoma Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Optic Atrophy and Early Glaucoma Panel that also includes the following genes: SLC4A4 SPG7 TBK1 ACO2 BEST1 WFS1 ACVR1 OPTN ASB10 MFRP
More info about this panelMitochondrial Depletion Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Mitochondrial Depletion Panel that also includes the following genes: SLC25A4 SPG7 SUCLA2 SUCLG1 TWNK TFAM TK2 FBXL4 APTX MGME1
More info about this panelHereditary Spastic Paraplegia Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Hereditary Spastic Paraplegia Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 TFG
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 panelAtaxia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel3-Methylglutaconic Aciduria Type 3 Panel
By Molecular Genetics Columbia University
This panel specifically test the OPA3 gene.
More info about this panelOPA3 Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the OPA3 gene.
More info about this panelHereditary Spastic Paraplegia Related Inborn Errors of Metabolism Panel Panel
By GeneDx Hereditary Spastic Paraplegia Related Inborn Errors of Metabolism Panel that also includes the following genes: BTD SPR TH MMACHC CYP27A1 GALC GBE1 GCH1 ABCD1 ARG1
More info about this panelOPA 3 mutation analysis Panel
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the OPA3 gene.
More info about this panelOPA3. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the OPA3 gene.
More info about this panelOptic atrophy 3 (sequence analysis of OPA3 gene) Panel
By CGC Genetics
This panel specifically test the OPA3 gene.
More info about this panelHereditary optic neuropathy, including Leber's hereditary optic neuropathy (NGS panel of 5 genes and 3 frequent mutations on mt DNA) Panel
By CGC Genetics Hereditary optic neuropathy, including Leber's hereditary optic neuropathy (NGS panel of 5 genes and 3 frequent mutations on mt DNA) that also includes the following genes: ACO2 RTN4IP1 TMEM126A MT-ND1 MT-ND4 MT-ND6 OPA1 OPA3
More info about this panel3-methylglutaconic aciduria type 3 (sequence analysis of OPA3 gene) Panel
By CGC Genetics
This panel specifically test the OPA3 gene.
More info about this panelHereditary optic neuropathy, including Leber's hereditary optic neuropathy (NGS panel of 5 genes and 3 frequent mutations on mt DNA) Panel
By CGC Genetics Hereditary optic neuropathy, including Leber's hereditary optic neuropathy (NGS panel of 5 genes and 3 frequent mutations on mt DNA) that also includes the following genes: ACO2 RTN4IP1 TMEM126A MT-ND1 MT-ND4 MT-ND6 OPA1 OPA3
More info about this panel3-methylglutaconic aciduria type 3 (sequence analysis of OPA3 gene) Panel
By CGC Genetics
This panel specifically test the OPA3 gene.
More info about this panelOPA3 Sequence Analysis Panel
By Translational Metabolic Laboratory Radboud University Medical Centre
This panel specifically test the OPA3 gene.
More info about this panelAutosomal Dominant Optic Atrophy with Cataract (ADOAC) and Costeff Syndrome or 3-Methylglutaconic Aciduria, Type III (MGA3) via OPA3 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the OPA3 gene.
More info about this panelComprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelMitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel with CNV Detection that also includes the following genes: SLC25A3 SLC25A4 SPG7 SUCLA2 SUCLG1 SUCLG2 TWNK TK2 FBXL4 APTX
More info about this panelOptic Atrophy Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Optic Atrophy Sequencing Panel with CNV Detection that also includes the following genes: SLC24A1 SPG7 ACO2 TIMM8A WFS1 MFN2 CISD2 TMEM126A MTPAP C12orf65
More info about this panelMetabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel Panel
By PreventionGenetics PreventionGenetics Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel that also includes the following genes: RYR1 SLC22A5 SUCLA2 TAZ TWNK TK2 LPIN1 SLC25A20 RBCK1 COQ8A
More info about this 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 panelCataract Panel
By MGZ Medical Genetics Center Cataract that also includes the following genes: BFSP1 BFSP2 SIX6 VIM WFS1 RAB18 FYCO1 JAM3 TBC1D20 CHMP4B
More info about this panel(Mitochondrial) Optic Atrophy Panel
By MGZ Medical Genetics Center (Mitochondrial) Optic Atrophy that also includes the following genes: WFS1 MFN2 TMEM126A MTPAP C12orf65 OPA1 OPA3
More info about this panelOptic Atrophy Type 3 Panel
By MGZ Medical Genetics Center
This panel specifically test the OPA3 gene.
More info about this panelEye Diseases - panels Panel
By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2
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 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 panelHereditary Optic Atrophy Panel
By MGZ Medical Genetics Center Hereditary Optic Atrophy that also includes the following genes: WFS1 MFN2 TMEM126A MTPAP C12orf65 OPA1 OPA3
More info about this panel3-Methylglutaconic aciduria, type III; MGCA3 (OPA3) Panel
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the OPA3 gene.
More info about this panelComprehensive mitochondrial disorders panel Panel
By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC
More info about this panelOptic atrophy type 3 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the OPA3 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 panelCentoICU platinum plus Panel
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelNew Born testing (CentoICU) Panel
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel3-methylglutaconic aciduria, type III Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the OPA3 gene.
More info about this panelHereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel
By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1
More info about this panelChoreatic Movement Disorders Panel Panel
By CeGaT GmbH Choreatic Movement Disorders Panel that also includes the following genes: ATXN1 ATXN2 ATXN7 TBP NKX2-1 FRRS1L JPH3 RNF216 ADCY5 C9orf72
More info about this panelNuclear encoded Mitochondriopathies Panel Panel
By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panelAtaxia and differential diagnoses Panel Panel
By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1
More info about this panelOptic Atrophy Panel Panel
By CeGaT GmbH Optic Atrophy Panel that also includes the following genes: SPG7 ACO2 TIMM8A VAX2 WFS1 MFN2 RTN4IP1 CISD2 SLC25A46 TMEM126A
More info about this panelSingle gene testing OPA3 Panel
By CeGaT GmbH
This panel specifically test the OPA3 gene.
More info about this panelOPA3 Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the OPA3 gene.
More info about this panelOptic Atrophy Panel
By Asper Biogene Asper Biogene LLC Optic Atrophy that also includes the following genes: TMEM126A OPA1 OPA3
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 panelEye diseases comprehensive panel Panel
By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelMetabolic Myopathy and Rhabdomyolysis Panel
By Asper Biogene Asper Biogene LLC Metabolic Myopathy and Rhabdomyolysis that also includes the following genes: RYR1 SCN4A SLC22A5 SUCLA2 TAZ TWNK TK2 LPIN1 SLC25A20 CAV3
More info about this 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 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 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 panelRetinal Dystrophy Panel Panel
By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelOptic Atrophy Panel Panel
By Molecular Vision Laboratory Optic Atrophy Panel that also includes the following genes: OPA1 OPA3
More info about this panelMVL Vision Panel Panel
By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelOptic Atrophy Type 3 Panel
By Clinical Genomics Maastricht University Medical Centre
This panel specifically test the OPA3 gene.
More info about this panelFamily Prep Screen Panel
By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5
More info about this panelInvitae Organic Acidemias Panel Panel
By Invitae Invitae Organic Acidemias Panel that also includes the following genes: SLC25A1 BTD SUCLA2 SUCLG1 TAZ MCEE MMAA MMAB L2HGDH SERAC1
More info about this panelInvitae Elevated C5-OH Panel Panel
By Invitae Invitae Elevated C5-OH Panel that also includes the following genes: BTD TAZ SERAC1 DNAJC19 HSD17B10 HLCS HMGCL MCCC1 MCCC2 OPA3
More info about this panelInvitae Metabolic Disorders Newborn Screening Confirmation Panel Panel
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 panelInvitae 3-Methylglutaconic Aciduria Panel Panel
By Invitae Invitae 3-Methylglutaconic Aciduria Panel that also includes the following genes: TAZ SERAC1 TMEM70 DNAJC19 CLPB OPA3 AUH
More info about this panelOptic atrophy Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Optic atrophy that also includes the following genes: SPG7 TIMM8A WFS1 MFN2 CISD2 TMEM126A C12orf65 NDUFS1 OPA1 OPA3
More info about this panelAutosomal Dominant Optic Atrophy: OPA3 Gene Sequencing Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the OPA3 gene.
More info about this panelAutosomal Dominant Optic Atrophy: OPA3 Gene Deletion/Duplication Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the OPA3 gene.
More info about this panelEye Disorders: Comprehensive Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Comprehensive Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panelOptic Atrophy: Sequencing and Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Optic Atrophy: Sequencing and Deletion/Duplication Panel that also includes the following genes: TIMM8A MFN2 TMEM126A OPA1 OPA3
More info about this panelInherited Metabolic Disorders: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Inherited Metabolic Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SLC22A5 SLC25A13 SLC25A15 SLC7A7 SMPD1 SUCLG1 TAZ LPIN1
More info about this panelPan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6
More info about this panelRetina/Photoreceptor Dystrophy: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Retina/Photoreceptor Dystrophy: Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4
More info about this panelEye Disorders: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Deletion/Duplication Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panelEye Disorders NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Eye Disorders NGS Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4
More info about this panelMyopathy-Rhabdomyolysis NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Myopathy-Rhabdomyolysis NGS Panel that also includes the following genes: SUCLA2 TWNK TK2 RRM2B ACAD9 CPT1B CPT2 TYMP AGL GAA
More info about this panelSpastic Paraplegia NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Spastic Paraplegia NGS Panel that also includes the following genes: RTN2 SLC16A2 SPG11 ATL1 SPAST SPG7 ACOX1 BSCL2 NIPA1 SPART
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 panelOPA3 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the OPA3 gene.
More info about this panelRetinal Dystrophy Panel Panel
By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4
More info about this panelNeuro-Ophthalmology Panel Panel
By Blueprint Genetics Neuro-Ophthalmology Panel that also includes the following genes: SLC25A4 SOX2 SPG7 TWNK ACO2 TIMM8A TK2 WFS1 ROBO3 SALL4
More info about this panelOptic Atrophy Panel Panel
By Blueprint Genetics Optic Atrophy Panel that also includes the following genes: SPG7 ACO2 TIMM8A WFS1 SNX10 MFN2 RTN4IP1 CISD2 SLC25A46 TMEM126A
More info about this panelComprehensive Metabolism Panel Panel
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panelMetabolic Myopathy and Rhabdomyolysis Panel Panel
By Blueprint Genetics Metabolic Myopathy and Rhabdomyolysis Panel that also includes the following genes: RYR1 SCN4A SLC22A5 SUCLA2 TWNK TK2 LPIN1 SLC25A20 CAV3 RBCK1
More info about this panelMitochondrial DNA Depletion Syndrome Panel Panel
By Blueprint Genetics Mitochondrial DNA Depletion Syndrome Panel that also includes the following genes: SLC25A3 SLC25A4 SPG7 SUCLA2 SUCLG1 TWNK TIMM8A TK2 WFS1 FBXL4
More info about this panelGlaucoma Panel Panel
By Blueprint Genetics Glaucoma Panel that also includes the following genes: TBK1 TEK CNTNAP2 OPTN COL4A1 TMEM126A CYP1B1 WDR36 FOXC1 FOXE3
More info about this panelCataract Panel Panel
By Blueprint Genetics Cataract Panel that also includes the following genes: BFSP1 BFSP2 TFAP2A VIM WFS1 WRN FYCO1 PXDN CHMP4B RAB3GAP1
More info about this panelAutosomal dominant optic atrophy type 3 Panel
By Bioarray
This panel specifically test the OPA3 gene.
More info about this panelOPTIC ATROPHY TYPE 3 (OPTIC ATROPHY AND CATARATS) Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the OPA3 gene.
More info about this panelOPTIC ATROPHY NGS PANEL Panel
By Laboratorio de Genetica Clinica SL OPTIC ATROPHY NGS PANEL that also includes the following genes: SPG7 ACO2 TIMM8A WFS1 MFN2 RTN4IP1 CISD2 SLC25A46 TMEM126A C12orf65
More info about this panelDominant Optic Atrophy Type 3, Sequencing OPA3 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the OPA3 gene.
More info about this panelOptic Atrophy , Panel Massive Sequencing 4 Genes Panel
By Reference Laboratory Genetics Optic Atrophy , Panel Massive Sequencing 4 Genes that also includes the following genes: ACO2 TMEM126A OPA1 OPA3
More info about this panelCEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 DUOX2
More info about this panelCEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG
More info about this panelPan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel3-methylglutaconic aciduria (3MGA) Type 1: gene sequencing panel (RAPID testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics 3-methylglutaconic aciduria (3MGA) Type 1: gene sequencing panel (RAPID testing) that also includes the following genes: TAZ DNAJC19 OPA3 AUH
More info about this panelOptic atrophy 3 with cataract: Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the OPA3 gene.
More info about this panel3-methylglutaconic aciduria, type III: Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the OPA3 gene.
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