HADHA gene related symptoms and diseases
All the information presented here about the HADHA gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to HADHA gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Muscular hypotonia | Common - Between 50% and 80% cases |
| Pain | Common - Between 50% and 80% cases |
| Hypoketotic hypoglycemia | Common - Between 50% and 80% cases |
| Cardiomyopathy | Common - Between 50% and 80% cases |
| Hepatic steatosis | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with HADHA gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Vomiting
- Congestive heart failure
- Rhabdomyolysis
- Dilated cardiomyopathy
- Coma
- Hypoglycemia
- Generalized hypotonia
- Pigmentary retinopathy
And 127 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to HADHA gene
Here you will find a list of rare diseases related to the HADHA. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD
Alternate names
ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD Is also known as vlcad deficiency
Description
Inborn errors of mitochondrial fatty acid beta-oxidation include medium-chain acyl-CoA dehydrogenase deficiency (OMIM ), short-chain acyl-CoA dehydrogenase deficiency (OMIM ), and very long-chain acyl-CoA dehydrogenase deficiency.VLCAD deficiency can be classified clinically into 3 forms: a severe early-onset form with high incidence of cardiomyopathy and high mortality; an intermediate form with childhood onset, usually with hypoketotic hypoglycemia and more favorable outcome; and an adult-onset, myopathic form with isolated skeletal muscle involvement, rhabdomyolysis, and myoglobinuria after exercise or fasting (Andresen et al., 1999).Patients reported with long-chain acyl-CoA dehydrogenase (LCAD) deficiency before VLCAD deficiency was defined were later found to have VLCAD deficiency (Strauss et al., 1995; Roe and Ding, 2001).
Most common symptoms of ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD
- Generalized hypotonia
- Muscle weakness
- Muscular hypotonia
- Pain
- Hepatomegaly
More info about ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD
SOURCES: OMIM
MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY
Alternate names
MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY Is also known as tfpd, tfp deficiency
Description
Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..
Most common symptoms of MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY
- Failure to thrive
- Muscle weakness
- Muscular hypotonia
- Motor delay
- Peripheral neuropathy
More info about MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY
SOURCES: ORPHANET
LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY
Alternate names
LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY Is also known as lchad deficiency, long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency, lchadd
Description
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.
Most common symptoms of LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Failure to thrive
More info about LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY
MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD
Alternate names
MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD Is also known as trifunctional protein deficiency
Description
The mitochondrial trifunctional protein, composed of 4 alpha and 4 beta subunits, catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase activities. Trifunctional protein deficiency is characterized by decreased activity of all 3 enzymes. Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death (SIDS ), infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy (Spiekerkoetter et al., 2003).Some patients with MTP deficiency show a protracted progressive course associated with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy. These patients tend to survive into adolescence and adulthood (den Boer et al., 2003).See also isolated LCHAD deficiency (OMIM ), which is caused by mutation in the HADHA gene.
Most common symptoms of MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD
- Seizures
- Global developmental delay
- Generalized hypotonia
- Failure to thrive
- Muscle weakness
More info about MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD
SOURCES: OMIM
ACUTE FATTY LIVER OF PREGNANCY
Alternate names
ACUTE FATTY LIVER OF PREGNANCY Is also known as aflp
Description
Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy.
Most common symptoms of ACUTE FATTY LIVER OF PREGNANCY
- Pain
- Fatigue
- Vomiting
- Headache
- Jaundice
More info about ACUTE FATTY LIVER OF PREGNANCY
Search interest in HADHA
Potential gene panels for HADHA 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.
Trifunctional Protein Deficiency Comprehensive Panel (Sequencing and Deletion/Duplication Analysis) Panel
United States.
By Baylor Miraca Genetics Laboratories Trifunctional Protein Deficiency Comprehensive Panel (Sequencing and Deletion/Duplication Analysis) that also includes the following genes: HADHA HADHB
More info about this panel United States.
Trifunctional Protein Deficiency Panel Panel
United States.
By Baylor Miraca Genetics Laboratories Trifunctional Protein Deficiency Panel that also includes the following genes: HADHA HADHB
More info about this panel United States.
Trifunctional Protein Deficiency Deletion/Duplication Panel Panel
United States.
By Baylor Miraca Genetics Laboratories Trifunctional Protein Deficiency Deletion/Duplication Panel that also includes the following genes: HADHA HADHB
More info about this panel United States.
Trifunctional Protein Deficiency Panel Panel
United States.
By Baylor Miraca Genetics Laboratories Trifunctional Protein Deficiency Panel that also includes the following genes: HADHA HADHB
More info about this panel United States.
HADHA Common Mutation Panel Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the HADHA gene.
More info about this panel United States.
HADHA Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the HADHA gene.
More info about this panel United States.
HADHA Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the HADHA gene.
More info about this panel United States.
HADHA Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the HADHA gene.
More info about this panel United States.
Fatty Acid Oxidation Panel (MitomeNGS) Panel
United States.
By Baylor Miraca Genetics Laboratories Fatty Acid Oxidation Panel (MitomeNGS) that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ACAD9 CPT1A CPT1B CPT2 ETFA ETFB
More info about this panel United States.
GeneAware Complete Panel Version 2 (Female) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
GeneAware Complete Panel Version 2 (Male) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
Non-immune Hydrops Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Non-immune Hydrops Panel that also includes the following genes: RIT1 RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 SEC23B
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.
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency - HADHA Del/dup Analysis Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the HADHA gene.
More info about this panel United States.
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency - HADHA Targeted Mutation Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the HADHA gene.
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.
Fatty Acid Oxidation Deficiency Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Fatty Acid Oxidation Deficiency that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ACAD9 CPT1A CPT1B CPT2 ETFA ETFB
More info about this panel United States.
Trifunctional Protein Deficiency Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Trifunctional Protein Deficiency that also includes the following genes: HADHA HADHB
More info about this panel United States.
MetaboSeq Fatty Acid Oxidation Disorders Panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center MetaboSeq Fatty Acid Oxidation Disorders Panel by next-generation sequencing (NGS) that also includes the following genes: SLC22A5 TAZ SLC25A20 ACAD9 CPT1A CPT2 ETFA ETFB ETFDH GLUD1
More info about this panel United States.
HADHA Genotype Analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the HADHA gene.
More info about this panel United States.
HADHA Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the HADHA gene.
More info about this panel United States.
MetaboSeq Fatty Acid Oxidation Disorders deletion/duplication panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center MetaboSeq Fatty Acid Oxidation Disorders deletion/duplication panel that also includes the following genes: SLC22A5 TAZ SLC25A20 ACAD9 CPT1A CPT2 ETFA ETFB ETFDH HADH
More info about this panel United States.
HADHA Deletion/duplication analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the HADHA gene.
More info about this panel United States.
Hypoparathyroidism Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hypoparathyroidism Deletion/Duplication Panel that also includes the following genes: STX16 TBCE TBX1 CASR CHD7 FAM111A CYP24A1 AIRE GATA3 GCM2
More info about this panel United States.
Hypoparathyroidism sequencing panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hypoparathyroidism sequencing panel that also includes the following genes: STX16 TBCE TBX1 CASR CDH7 FAM111A CYP24A1 AIRE GATA3 GCM2
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.
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Panel
Czech Republic.
By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague
This panel specifically test the HADHA gene.
More info about this panel Czech Republic.
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the HADHA gene.
More info about this panel Canada.
Fatty acid metabolism/ketogenesis disorders Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Fatty acid metabolism/ketogenesis disorders that also includes the following genes: SLC22A5 SLC25A20 SLC52A3 ACAD9 CPT1A CPT1B CPT2 SLC52A2 SLC52A1 ETFA
More info about this panel United Kingdom.
Mitochondrial Trifunctional Protein deficiency Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Mitochondrial Trifunctional Protein deficiency that also includes the following genes: HADH HADHA HADHB
More info about this panel United Kingdom.
Fatty acid metabolism/ketogenesis disorders Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Fatty acid metabolism/ketogenesis disorders that also includes the following genes: SLC22A5 SLC25A20 SLC52A3 ACAD9 CPT1A CPT1B CPT2 SLC52A2 SLC52A1 ETFA
More info about this panel United Kingdom.
Rhabdomyolysis Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Rhabdomyolysis that also includes the following genes: RYR1 SLC22A5 LPIN1 CAV3 RBCK1 CPT1B CPT2 ISCU AGL ENO3
More info about this panel United Kingdom.
HADHA. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the HADHA gene.
More info about this panel Spain.
HADHA. Detection of the mutation p.Glu510Gln Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the HADHA gene.
More info about this panel Spain.
LCHAD deficiency (sequence analysis of HADHA gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the HADHA gene.
More info about this panel Portugal.
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (E510Q mutation of HADHA gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the HADHA gene.
More info about this panel Portugal.
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Panel
Poland.
By Laboratory of Genetics BioTe21 Adam Master
This panel specifically test the HADHA gene.
More info about this panel Poland.
MTP deficiency (HADHA and HADHB genes) Panel
Netherlands.
By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center MTP deficiency (HADHA and HADHB genes) that also includes the following genes: HADHA HADHB
More info about this panel Netherlands.
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Panel
Netherlands.
By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center
This panel specifically test the HADHA gene.
More info about this panel Netherlands.
Hypoparathyroidism Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hypoparathyroidism Sequencing Panel with CNV Detection that also includes the following genes: SOX3 STX16 TBCE CASR FAM111A AIRE GATA3 GCM2 GNA11 GNAS
More info about this panel United States.
Hyperammonemia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hyperammonemia Sequencing Panel with CNV Detection that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SLC7A7 SLC25A20 NAGS MMAA MMAB CPT1A CPT2
More info about this panel United States.
Comprehensive Cardiology Sequencing Panel with CNV Detection Panel
United States.
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 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.
Disorders of Fatty Acid Oxidation Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders of Fatty Acid Oxidation Sequencing Panel with CNV Detection that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ACAD9 CPT1A CPT2 FLAD1 DECR1 ECHS1
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.
Mitochondrial Trifunctional Protein Deficiency and Long-Chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Mitochondrial Trifunctional Protein Deficiency and Long-Chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency Sequencing Panel with CNV Detection that also includes the following genes: HADHA HADHB
More info about this panel United States.
Mitochondrial Trifunctional Protein Deficiency and Long-Chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency via HADHA Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the HADHA gene.
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.
Metabolic Myopathy / Fatty Acid Oxidation Disorder / Myalgia / Rhabdomyolysis Panel
Germany.
By MGZ Medical Genetics Center Metabolic Myopathy / Fatty Acid Oxidation Disorder / Myalgia / Rhabdomyolysis that also includes the following genes: RYR1 SLC22A5 LPIN1 FKRP ABHD5 CPT2 ANO5 DMD ISCU FDX2
More info about this panel Germany.
Neuropathy Panel
Germany.
By MGZ Medical Genetics Center Neuropathy that also includes the following genes: SACS SCN10A SCN11A SCN9A SH3BP4 SLC12A6 SOD1 SPG11 ATL1 SPAST
More info about this panel Germany.
HADHA Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the HADHA gene.
More info about this panel Germany.
Muscle Pain - fluctuating CK - Rhabdomyolysis Panel
Germany.
By MGZ Medical Genetics Center Muscle Pain - fluctuating CK - Rhabdomyolysis that also includes the following genes: RYR1 SCN4A TTN TTR LPIN1 CACNA1S FKRP CLCN1 CPT2 ANO5
More info about this panel Germany.
Muscle Weakness (Myopathy, Muscular Dystrophy) Panel
Germany.
By MGZ Medical Genetics Center Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: RYR1 BIN1 SCN4A SCO2 SDHA SGCA SGCB SGCD SGCG SLC22A5
More info about this panel Germany.
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) Panel
Germany.
By MGZ Medical Genetics Center Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) that also includes the following genes: RYR1 SCN4A SGCA SGCB SGCD SGCG SLC22A5 STIM1 TCAP TIA1
More info about this panel Germany.
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.
Trifunctional protein deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the HADHA gene.
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.
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the HADHA gene.
More info about this panel Germany.
Metabolic Myopathies Panel Panel
Germany.
By CeGaT GmbH Metabolic Myopathies Panel that also includes the following genes: SLC16A1 SLC22A5 TAZ LPIN1 SLC25A20 PUS1 RBCK1 RRM2B ABHD5 ACAD9
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.
Charcot-Marie-Tooth and Sensory Neuropathies Panel Panel
Germany.
By CeGaT GmbH Charcot-Marie-Tooth and Sensory Neuropathies Panel that also includes the following genes: SBF1 SCN10A SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2
More info about this panel Germany.
HAHDH - Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Panel
Sweden.
By Centre for Inherited Metabolic Diseases Karolinska University Hospital
This panel specifically test the HADHA gene.
More info about this panel Sweden.
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Panel
Poland.
By Laboratory of Human Genetics GENOMED Health Care Center
This panel specifically test the HADHA gene.
More info about this panel Poland.
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.
Fatty Acid Oxidation Disorder Panel
Estonia.
By Asper Biogene Asper Biogene LLC Fatty Acid Oxidation Disorder that also includes the following genes: SLC22A5 TAZ SLC25A20 ACAD9 CPT1A CPT2 ETFA ETFB ETFDH GLUD1
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.
Family Prep Screen Panel
United States.
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 panel United States.
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.
Invitae Elevated C16-OH, C16:1-OH, C18-OH and C18:1-OH Panel Panel
United States.
By Invitae Invitae Elevated C16-OH, C16:1-OH, C18-OH and C18:1-OH Panel that also includes the following genes: HADHA HADHB
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.
Invitae Fatty Acid Oxidation Defects Panel Panel
United States.
By Invitae Invitae Fatty Acid Oxidation Defects Panel that also includes the following genes: SLC22A5 SLC25A20 CPT1A CPT2 NADK2 ETFA ETFB ETFDH HADH HADHA
More info about this panel United States.
Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (LCHAD): HADHA Full Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the HADHA gene.
More info about this panel United States.
Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (LCHAD): HADHA Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the HADHA gene.
More info about this panel United States.
Trifunctional Protein Deficiency: Full Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Trifunctional Protein Deficiency: Full Gene Sequencing that also includes the following genes: HADHA HADHB
More info about this panel United States.
Trifunctional Protein Deficiency: Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Trifunctional Protein Deficiency: Gene Deletion/Duplication that also includes the following genes: HADHA HADHB
More info about this panel United States.
Inherited Metabolic Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Inherited Metabolic Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SLC22A5 SLC25A13 SLC25A15 SLC7A7 SMPD1 SUCLG1 TAZ LPIN1
More info about this panel United States.
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
United States.
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 panel United States.
LCHAD Deficiency (HADHA) Panel
United States.
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the HADHA gene.
More info about this panel United States.
Inheritest NGS, Comprehensive Panel
United States.
By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3
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.
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.
Fatty Acid Oxidation Deficiency NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Fatty Acid Oxidation Deficiency NGS Panel that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ACAD9 CPT1A CPT1B CPT2 ETFA ETFB
More info about this panel United States.
HADHA Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HADHA gene.
More info about this panel United States.
Long Chain Acyl-CoA Dehydrogenase (LCHAD) Mutation Analysis Panel
United States.
By Quest Diagnostics Nichols Institute San Juan Capistrano
This panel specifically test the HADHA gene.
More info about this panel United States.
Long Chain Acyl-CoA Dehydrogenase (LCHAD) Mutation Analysis (NY) Panel
United States.
By Quest Diagnostics Nichols Institute San Juan Capistrano
This panel specifically test the HADHA gene.
More info about this panel United States.
Long Chain 3-OH AcylCoA Dehydrogenase Deficiency (LCHAD) Panel
United States.
By Pro Genetic Laboratory/ (DBA) University Childrens' Genetics Laboratory
This panel specifically test the HADHA gene.
More info about this panel United States.
Cardiomyopathy Panel Panel
Finland.
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 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.
Arrhythmia Panel Panel
Finland.
By Blueprint Genetics Arrhythmia Panel that also includes the following genes: RYR2 SCN10A SCN1B SCN5A TBX5 TGFB3 TNNI3 TNNT2 TRDN TTN
More info about this panel Finland.
Comprehensive Cardiology Panel Panel
Finland.
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 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.
Fatty Acid Oxidation Syndrome Panel Panel
Finland.
By Blueprint Genetics Fatty Acid Oxidation Syndrome Panel that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ACAD9 CPT1A CPT2 ECHS1 ETFA ETFB
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.
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Panel
Spain.
By Bioarray
This panel specifically test the HADHA gene.
More info about this panel Spain.
Baby Genes Targeted Panel Panel
United States.
By Baby Genes Inc. Baby Genes Inc. Baby Genes Targeted Panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG
More info about this panel United States.
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency , Sequencing HADHA Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the HADHA gene.
More info about this panel Spain.
Fatty Acid Oxidation Related Disorders , Panel Massive Sequencing (NGS) 19 Genes Panel
Spain.
By Reference Laboratory Genetics Fatty Acid Oxidation Related Disorders , Panel Massive Sequencing (NGS) 19 Genes that also includes the following genes: SLC22A5 TAZ SLC25A20 ACAD9 CPT1A CPT2 ETFA ETFB ETFDH GLUD1
More info about this panel Spain.
CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel
Canada.
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 panel Canada.
CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel
Canada.
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 panel Canada.
LCHAD deficiency (Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency): Full gene sequencing (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the HADHA gene.
More info about this panel Canada.
Trifunctional protein deficiency : Full gene panel sequencing (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Trifunctional protein deficiency : Full gene panel sequencing (Rapid testing) that also includes the following genes: HADHA HADHB
More info about this panel Canada.
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
Canada.
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 panel Canada.
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