SDHA gene related symptoms and diseases
All the information presented here about the SDHA gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SDHA gene
Symptoms // Phenotype | % Cases |
---|---|
Paraganglioma | Common - Between 50% and 80% cases |
Seizures | Uncommon - Between 30% and 50% cases |
Fatigue | Uncommon - Between 30% and 50% cases |
Cardiomyopathy | Uncommon - Between 30% and 50% cases |
Optic atrophy | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with SDHA gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Leukodystrophy
- Ophthalmoplegia
- Dilated cardiomyopathy
- Hypertrophic cardiomyopathy
- Acidosis
- Arrhythmia
- Dystonia
- Congestive heart failure
And 216 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SDHA gene
Here you will find a list of rare diseases related to the SDHA. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY
Alternate names
ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY Is also known as isolated succinate-ubiquinone reductase deficiency, isolated succinate-coenzyme q reductase deficiency, isolated mitochondrial respiratory chain complex ii deficiency, succinate coq reductase deficiency
Description
Mitochondrial complex II deficiency is an autosomal recessive disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013).
Most common symptoms of ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
More info about ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY
CARDIOMYOPATHY, DILATED, 1GG; CMD1GG
Most common symptoms of CARDIOMYOPATHY, DILATED, 1GG; CMD1GG
- Seizures
- Cardiomyopathy
- Dilated cardiomyopathy
- Ventricular hypertrophy
- Left ventricular hypertrophy
More info about CARDIOMYOPATHY, DILATED, 1GG; CMD1GG
SOURCES: OMIM
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY
Alternate names
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY Is also known as cardiomyopathy, familial dilated, cardiomyopathy, familial dilated, 1, cmpd1, familial or idiopathic dilated cardiomyopathy, fdc
Description
Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia.
Most common symptoms of FAMILIAL ISOLATED DILATED CARDIOMYOPATHY
- Sensorineural hearing impairment
- Feeding difficulties
- Fatigue
- Ventriculomegaly
- Cardiomyopathy
More info about FAMILIAL ISOLATED DILATED CARDIOMYOPATHY
GASTROINTESTINAL STROMAL TUMOR
Alternate names
GASTROINTESTINAL STROMAL TUMOR Is also known as gastrointestinal stromal sarcoma, gist
Description
Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.
Most common symptoms of GASTROINTESTINAL STROMAL TUMOR
- Neoplasm
- Pain
- Anemia
- Fever
- Fatigue
More info about GASTROINTESTINAL STROMAL TUMOR
LEIGH SYNDROME; LS
Alternate names
LEIGH SYNDROME; LS Is also known as necrotizing encephalopathy, infantile subacute, of leigh, sne
Description
Leigh syndrome is an early-onset progressive neurodegenerative disorder with a characteristic neuropathology consisting of focal, bilateral lesions in one or more areas of the central nervous system, including the brainstem, thalamus, basal ganglia, cerebellum, and spinal cord. The lesions are areas of demyelination, gliosis, necrosis, spongiosis, or capillary proliferation. Clinical symptoms depend on which areas of the central nervous system are involved. The most common underlying cause is a defect in oxidative phosphorylation (Dahl, 1998).Leigh syndrome may be a feature of a deficiency of any of the mitochondrial respiratory chain complexes: complex I deficiency (OMIM ), complex II deficiency (OMIM ), complex III deficiency (OMIM ), complex IV deficiency (cytochrome c oxidase; {220110}), or complex V deficiency (OMIM ).
Most common symptoms of LEIGH SYNDROME; LS
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Ataxia
More info about LEIGH SYNDROME; LS
SOURCES: OMIM
CARNEY TRIAD
Alternate names
CARNEY TRIAD Is also known as gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma
Description
Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.
Most common symptoms of CARNEY TRIAD
- Anemia
- Hypertension
- Fatigue
- Diarrhea
- Headache
More info about CARNEY TRIAD
HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA
Alternate names
HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA Is also known as familial pheochromocytoma-paraganglioma
Description
Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term).
Most common symptoms of HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA
- Tremor
- Fatigue
- Congestive heart failure
- Weight loss
- Conductive hearing impairment
More info about HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA
SOURCES: ORPHANET
PARAGANGLIOMAS 5; PGL5
Most common symptoms of PARAGANGLIOMAS 5; PGL5
- Neoplasm
- Hypertension
- Hyperhidrosis
- Vertigo
- Tachycardia
More info about PARAGANGLIOMAS 5; PGL5
SOURCES: OMIM
LEIGH SYNDROME WITH LEUKODYSTROPHY
Alternate names
LEIGH SYNDROME WITH LEUKODYSTROPHY Is also known as leigh disease with leukodystrophy, infantile subacute necrotizing encephalopathy with leukodystrophy
Most common symptoms of LEIGH SYNDROME WITH LEUKODYSTROPHY
- Seizures
- Global developmental delay
- Hearing impairment
- Nystagmus
- Failure to thrive
More info about LEIGH SYNDROME WITH LEUKODYSTROPHY
SOURCES: ORPHANET
Search interest in SDHA
Potential gene panels for SDHA gene
SDHA Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the SDHA gene.
More info about this panelSDHA Sequence Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the SDHA gene.
More info about this panelHereditary Renal Cancer Panel Panel
By Baylor Miraca Genetics Laboratories Hereditary Renal Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD VHL WT1 CDKN1C SDHAF2 FLCN FH
More info about this panelHereditary Paraganglioma/Pheochromocytoma Panel Panel
By Baylor Miraca Genetics Laboratories Hereditary Paraganglioma/Pheochromocytoma Panel that also includes the following genes: SDHA SDHB SDHC SDHD VHL SDHAF2 TMEM127 MAX RET
More info about this panelHereditary Endocrine Cancer Panel Panel
By Baylor Miraca Genetics Laboratories Hereditary Endocrine Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD TP53 VHL CDC73 SDHAF2 TMEM127 MAX
More info about this panelComprehensive Hereditary Cancer Panel Panel
By Baylor Miraca Genetics Laboratories Comprehensive Hereditary Cancer Panel that also includes the following genes: RUNX1 SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM
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 panelComprehensive Hereditary Cancer Panel Panel
By Genetic Services Laboratory University of Chicago Comprehensive Hereditary Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SRP72
More info about this panelHereditary Pheochromocytoma and Paraganglioma Panel Panel
By Genetic Services Laboratory University of Chicago Hereditary Pheochromocytoma and Paraganglioma Panel that also includes the following genes: SDHA SDHB SDHC SDHD EGLN1 VHL KIF1B SDHAF2 TMEM127 EPAS1
More info about this panelDystonia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8
More info about this panelAtaxia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panelHereditary Paraganglioma-Pheochromocytoma (SDHA) Sequencing Panel
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the SDHA gene.
More info about this panelSDHA Gene Sequencing Panel
By GeneDx
This panel specifically test the SDHA gene.
More info about this panelPGL/PCC (Paraganglioma/Pheochromocytoma) Panel Panel
By GeneDx PGL/PCC (Paraganglioma/Pheochromocytoma) Panel that also includes the following genes: SDHA SDHB SDHC SDHD VHL SDHAF2 TMEM127 FH MAX MEN1
More info about this panelHereditary Cancer Panel - Renal19 Panel
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Hereditary Cancer Panel - Renal19 that also includes the following genes: SDHA SDHB SDHC SDHD EPCAM TP53 TSC1 TSC2 VHL CDC73
More info about this panelHereditary Cancer Panel - Endocrine/Paraganglioma-Pheochromocytoma17 Panel
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Hereditary Cancer Panel - Endocrine/Paraganglioma-Pheochromocytoma17 that also includes the following genes: SDHA SDHB SDHC SDHD TP53 TSC1 TSC2 VHL CDC73 SDHAF2
More info about this panelHereditary Cancer Panel- Comprehensive63 Panel
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Hereditary Cancer Panel- Comprehensive63 that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 STK11
More info about this panelCancerNext-Expanded Panel
By Ambry Genetics CancerNext-Expanded that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1
More info about this panelCustomNext: Cancer Panel
By Ambry Genetics CustomNext: Cancer that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1
More info about this panelPGLNext Panel
By Ambry Genetics PGLNext that also includes the following genes: SDHA SDHB SDHC SDHD VHL SDHAF2 TMEM127 FH MAX MEN1
More info about this panelRenalNext Panel
By Ambry Genetics RenalNext that also includes the following genes: SDHA SDHB SDHC SDHD EPCAM TP53 TSC1 TSC2 VHL FLCN
More info about this panelHereditary Paraganglioma/Pheochromocytoma Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Hereditary Paraganglioma/Pheochromocytoma Panel that also includes the following genes: SDHA SDHB SDHC SDHD VHL SDHAF2 TMEM127 FH MAX MEN1
More info about this panelHereditary Endocrine Cancer Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Hereditary Endocrine Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD TP53 VHL CDC73 CDKN1B SDHAF2 TMEM127
More info about this panelCHOP Comprehensive Hereditary Cancer Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Comprehensive Hereditary Cancer Panel that also includes the following genes: RMRP RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SH2D1A SLC25A13
More info about this panelHereditary Kidney Cancer Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Hereditary Kidney Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCB1 TSC1 TSC2 VHL WT1 CDC73
More info about this panelSuccinate CoQ reductase deficiency (sequence analysis of SDHA gene) Panel
By CGC Genetics
This panel specifically test the SDHA gene.
More info about this panelParagangliomas 5 (PGL5, sequence analysis of SDHA gene) Panel
By CGC Genetics
This panel specifically test the SDHA gene.
More info about this panelParagangliomas 5 (deletion/duplication analysis of SDHA gene) Panel
By CGC Genetics
This panel specifically test the SDHA gene.
More info about this panelPheochromocytoma and paraganglioma (NGS panel for 16 genes) Panel
By CGC Genetics Pheochromocytoma and paraganglioma (NGS panel for 16 genes) that also includes the following genes: SDHA SDHB SDHC SDHD EGLN1 VHL KIF1B SDHAF2 TMEM127 FH
More info about this panelLeigh syndrome (deletion/duplication analysis on SDHA gene) Panel
By CGC Genetics
This panel specifically test the SDHA gene.
More info about this panelLeigh syndrome (deletion/duplication analysis on SDHA gene) Panel
By CGC Genetics
This panel specifically test the SDHA gene.
More info about this panelPheochromocytoma and paraganglioma (NGS panel for 16 genes) Panel
By CGC Genetics Pheochromocytoma and paraganglioma (NGS panel for 16 genes) that also includes the following genes: SDHA SDHB SDHC SDHD EGLN1 VHL KIF1B SDHAF2 TMEM127 FH
More info about this panelSDHA-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome Panel
By Translational Metabolic Laboratory Radboud University Medical Centre
This panel specifically test the SDHA gene.
More info about this panelCancer Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Cancer Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4
More info about this panelRenal Cancer Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Renal Cancer Sequencing Panel with CNV Detection that also includes the following genes: SDHA SDHB SDHC SDHD SMARCB1 EPCAM TP53 TSC1 TSC2 VHL
More info about this panelMitochondrial Complex II Deficiency Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Mitochondrial Complex II Deficiency Sequencing Panel with CNV Detection that also includes the following genes: SDHA SDHB SDHD SDHAF1
More info about this panelHereditary Paraganglioma-Pheochromocytoma Syndrome via SDHA Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the SDHA gene.
More info about this panelHereditary Paraganglioma-Pheochromocytoma Syndrome Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hereditary Paraganglioma-Pheochromocytoma Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SDHA SDHB SDHC SDHD VHL SDHAF2 TMEM127 FH MAX MEN1
More info about this panelEndocrine tumours Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Endocrine tumours that also includes the following genes: SDHA SDHB SDHC SDHD VHL CDKN1B SDHAF2 TMEM127 MAX MEN1
More info about this panelHypertension Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Hypertension that also includes the following genes: SCNN1A SCNN1G SDHA SDHB SDHC SDHD WNK1 WNK4 CUL3 CYP17A1
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 panelHereditary kidney disorders - different panels Panel
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 panelCustom gene seqeuncing panel Panel
By Molecular Diagnostics Laboratory University of Toledo Medical Center Custom gene seqeuncing panel that also includes the following genes: RYR1 SDHA SDHC EPCAM TP53 TSC1 TSC2 TTR VHL CACNA1S
More info about this panelHereditary Renal Cancer panel Panel
By Molecular Diagnostics Laboratory University of Toledo Medical Center Hereditary Renal Cancer panel that also includes the following genes: SDHA SDHC TP53 TSC1 TSC2 VHL FLCN FH MET MITF
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 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 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 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 panelComplex II Defect Panel
By MGZ Medical Genetics Center Complex II Defect that also includes the following genes: SDHA SDHB SDHC SDHD SDHAF2 ISCU SDHAF1
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 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 panelPheochromocytoma type 1 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the SDHA gene.
More info about this panelPheochromocytoma and Paraganglioma Panel Panel
By CeGaT GmbH Pheochromocytoma and Paraganglioma Panel that also includes the following genes: SDHA SDHB SDHC SDHD VHL CDKN1B SDHAF2 TMEM127 MAX MEN1
More info about this panelRenal cell carcinoma Panel Panel
By CeGaT GmbH Renal cell carcinoma Panel that also includes the following genes: SDHA SDHB SDHC SDHD EPCAM HNF1A HNF1B TP53 TSC1 TSC2
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 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 panelCancer Predisposition Panel
By Asper Biogene Asper Biogene LLC Cancer Predisposition that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1
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 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 panelInherited Cancer Screen Panel
By Counsyl Inherited Cancer Screen that also includes the following genes: SDHA SDHB SDHC BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL
More info about this panelInvitae Common Hereditary Cancers Panel (Breast, Gyn, GI) Panel
By Invitae Invitae Common Hereditary Cancers Panel (Breast, Gyn, GI) that also includes the following genes: SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 STK11 EPCAM
More info about this panelInvitae Gastric Cancer Panel Panel
By Invitae Invitae Gastric Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD BMPR1A STK11 EPCAM TP53 CDH1 APC
More info about this panelInvitae Sarcoma Panel Panel
By Invitae Invitae Sarcoma Panel that also includes the following genes: BLM SDHA SDHB SDHC SDHD EPCAM TP53 WRN SUFU DICER1
More info about this panelInvitae Multi-Cancer Panel Panel
By Invitae Invitae Multi-Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4
More info about this panelInvitae Hereditary Paraganglioma-Pheochromocytoma Panel Panel
By Invitae Invitae Hereditary Paraganglioma-Pheochromocytoma Panel that also includes the following genes: SDHA SDHB SDHC SDHD VHL SDHAF2 TMEM127 MAX NF1 RET
More info about this panelInvitae Familial Gastrointestinal Stromal Tumor Syndrome Panel Panel
By Invitae Invitae Familial Gastrointestinal Stromal Tumor Syndrome Panel that also includes the following genes: SDHA SDHB SDHC SDHD KIT NF1 PDGFRA
More info about this panelInvitae Pediatric Solid Tumors Panel Panel
By Invitae Invitae Pediatric Solid Tumors Panel that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A SMARCA4 SMARCB1 SMARCE1 STK11
More info about this panelaraganglioma-pheochromocytoma 5 (PGL5) syndrome , Hereditary: SDHA gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SDHA gene.
More info about this panelONCOLOGY, PANEL Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases ONCOLOGY, PANEL that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRAF BRCA1 BRCA2 SMARCA4
More info about this panelPARAGANGLIOMA-PHEOCHROMOCYTOMA Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases PARAGANGLIOMA-PHEOCHROMOCYTOMA that also includes the following genes: SDHA SDHB SDHC SDHD VHL SDHAF2 TMEM127 MAX MEN1 NF1
More info about this panelLeukodistrophy Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Leukodistrophy that also includes the following genes: SCP2 AIMP1 SDHA SLC16A2 SOX10 TREX1 TYROBP BEST1 SAMHD1 MLC1
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 panelPan-Cardio NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Pan-Cardio NGS Panel that also includes the following genes: MRPL3 RYR2 SCN1B SCN4B SCN5A SDHA SGCD SNTA1 TAZ TBX1
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 panelHereditary Cancer NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Hereditary Cancer NGS Panel that also includes the following genes: ROBO2 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1
More info about this panelParaganglioma-Pheochromocytomas NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Paraganglioma-Pheochromocytomas NGS Panel that also includes the following genes: SDHA SDHB SDHC SDHD EGLN1 VHL KIF1B SDHAF2 TMEM127 MAX
More info about this panelKidney Renal Cancer NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Kidney Renal Cancer NGS Panel that also includes the following genes: SDHA SDHB SDHC SDHD EPCAM TP53 TSC1 TSC2 VHL FLCN
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 panelRenal/Kidney NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Renal/Kidney NGS Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCB1 EPCAM TP53 TSC1 TSC2 VHL
More info about this panelSDHA Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SDHA 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 panelComprehensive Cancer Panel Panel
By Fulgent Genetics Fulgent Genetics Comprehensive Cancer Panel that also includes the following genes: ROBO2 RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2
More info about this panelSarcoma Comprehensive Panel Panel
By Fulgent Genetics Fulgent Genetics Sarcoma Comprehensive Panel that also includes the following genes: BLM SDHA SDHB SDHC SDHD EPCAM TP53 WRN SUFU DICER1
More info about this panelParaganglioma-Pheochromocytoma Comprehensive Panel Panel
By Fulgent Genetics Fulgent Genetics Paraganglioma-Pheochromocytoma Comprehensive Panel that also includes the following genes: SDHA SDHB SDHC SDHD VHL SDHAF2 TMEM127 FH MAX NF1
More info about this panelRenal / Urinary Cancer Comprehensive Panel Panel
By Fulgent Genetics Fulgent Genetics Renal / Urinary Cancer Comprehensive Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCA4 SMARCB1 EPCAM TP53 TSC1 TSC2
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 panelHereditary Pediatric Cancer Panel Panel
By Blueprint Genetics Hereditary Pediatric Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF
More info about this panelComprehensive Hereditary Cancer Panel Panel
By Blueprint Genetics Comprehensive Hereditary Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF
More info about this panelHereditary Paraganglioma-Pheochromocytoma Panel Panel
By Blueprint Genetics Hereditary Paraganglioma-Pheochromocytoma Panel that also includes the following genes: SDHA SDHB SDHC SDHD VHL SDHAF2 TMEM127 FH MAX NF1
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 panelHereditary Endocrine Cancer Panel Panel
By Blueprint Genetics Hereditary Endocrine Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD TP53 VHL WRN CDC73 DICER1 CDKN1B
More info about this panelFoundationOne® Heme Panel
By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1
More info about this panelNeoTYPE® Discovery Profile for Solid Tumors Panel
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2
More info about this panelPHEOCHROMOCYTOMA-PARAGANGLIOMA Panel
By Laboratorio de Genetica Clinica SL PHEOCHROMOCYTOMA-PARAGANGLIOMA that also includes the following genes: SDHA SDHB SDHC SDHD VHL SDHAF2 TMEM127 FH MAX NF1
More info about this panelMITOCHONDRIAL COMPLEX 2 DEFICIENCY (NUCLEAR GENE) Panel
By Laboratorio de Genetica Clinica SL MITOCHONDRIAL COMPLEX 2 DEFICIENCY (NUCLEAR GENE) that also includes the following genes: SDHA SDHAF1
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 panelPHEOCHROMOCYTOMA-PARAGANGLIOMA NGS PANEL Panel
By Laboratorio de Genetica Clinica SL PHEOCHROMOCYTOMA-PARAGANGLIOMA NGS PANEL that also includes the following genes: SDHA SDHB SDHC SDHD VHL KIF1B SDHAF2 TMEM127 EPAS1 FH
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 panelProvidence Personalized Medicine Panel - Solid Tumor Panel
By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2
More info about this panelHereditary Pheochromocytoma-Paraganglioma Syndrome Type 5, Sequencing SDHA/PGL5Gene Panel
By Reference Laboratory Genetics
This panel specifically test the SDHA gene.
More info about this panelHereditary Pheochromocytoma-Paraganglioma Syndrome Type 5 , Deletions-Duplications (MLPA) SDHA Gene Panel
By Reference Laboratory Genetics
This panel specifically test the SDHA gene.
More info about this panelLeukodystrophies , Panel Massive Sequencing (NGS) 57 genes Panel
By Reference Laboratory Genetics Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes that also includes the following genes: AIMP1 SDHA SLC16A2 SOX10 TREX1 TYROBP BEST1 SAMHD1 MLC1 GJC2
More info about this panelHereditary Pheochromocytoma-Paraganglioma Syndrome , Panel Massive Sequencing (NGS) 11 Genes Panel
By Reference Laboratory Genetics Hereditary Pheochromocytoma-Paraganglioma Syndrome , Panel Massive Sequencing (NGS) 11 Genes that also includes the following genes: SDHA SDHB SDHC SDHD VHL SDHAF2 TMEM127 MAX MEN1 NF1
More info about this panelPhosphorus Dilated Cardiomyopathy Including Recessive Pediatric Syndromes Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Dilated Cardiomyopathy Including Recessive Pediatric Syndromes Panel that also includes the following genes: RYR2 SCN5A SDHA SGCD SLC22A5 TAZ TCAP TNNC1 TNNI3 TNNT2
More info about this panelPhosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SDHA SGCD SLC22A5 BRAF SOS1 SOS2
More info about this panelPhosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN4B SCN5A SDHA SGCD SLC22A5 BRAF
More info about this panelPhosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SDHA SGCD SLC22A5 BRAF SOS1 SOS2
More info about this panelPhosphorus Pan Arrhythmia and Cardiomyopathy Including Recessive Pediatric Syndromes Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Including Recessive Pediatric Syndromes Panel that also includes the following genes: RYR2 SCN10A SCN4B SCN5A SDHA SGCD SLC22A5 SNTA1 TAZ TCAP
More info about this panelPhosphorus Brain and Nervous System Cancer Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Brain and Nervous System Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCA4 SMARCB1 SMARCE1 EPCAM TP53 TSC1
More info about this panelPhosphorus Renal/Urinary Tract Cancer Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Renal/Urinary Tract Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCA4 SMARCB1 EPCAM TP53 TSC1 TSC2
More info about this panelPhosphorus Pan-Cancer Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Pan-Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4
More info about this panelPhosphorus Pediatric Cancers Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Pediatric Cancers Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SMARCB1 STK11 EPCAM
More info about this panelTempus xT assay Panel
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panelHereditary Paraganglioma-Pheochromocytoma Syndromes: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Paraganglioma-Pheochromocytoma Syndromes: gene sequencing panel that also includes the following genes: SDHA SDHB SDHC SDHD
More info about this panelCEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2
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