ACADM gene related symptoms and diseases
All the information presented here about the ACADM gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ACADM gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Generalized hypotonia | Very Common - Between 80% and 100% cases |
| Iris coloboma | Uncommon - Between 30% and 50% cases |
| Atrial septal defect | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ACADM gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Hernia
- Cerebellar hypoplasia
- Posteriorly rotated ears
- Polyhydramnios
- Cleft lip
- Coloboma
- Abnormal cardiac septum morphology
- Facial asymmetry
And 54 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ACADM gene
Here you will find a list of rare diseases related to the ACADM. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY
Alternate names
MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY Is also known as medium chain acyl-coenzyme a dehydrogenase deficiency, mcadh deficiency, acadm deficiency, mcad deficiency, carnitine deficiency secondary to medium-chain acyl-coa dehydrogenase deficiency, mcadd
Description
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.
Most common symptoms of MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY
- Seizures
- Global developmental delay
- Generalized hypotonia
- Muscular hypotonia
- Hepatomegaly
More info about MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY
HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2
Alternate names
HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2 Is also known as hydrocephalus, nonsyndromic, autosomal recessive 2, formerly
Description
Congenital hydrocephalus-2 is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. Some patients die in utero, in infancy, or in early childhood, whereas others have long-term survival (summary by Shaheen et al., 2017).For a discussion of genetic heterogeneity of congenital hydrocephalus, see {233600}.
Most common symptoms of HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
More info about HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2
SOURCES: OMIM
Search interest in ACADM
Potential gene panels for ACADM gene
ACADM Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ACADM gene.
More info about this panel United States.
ACADM Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ACADM gene.
More info about this panel United States.
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.
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.
MCAD deficiency Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
This panel specifically test the ACADM gene.
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.
Medium Chain Acyl CoA Mutation Panel
United States.
By Molecular Pathology Laboratory University of Pennsylvania Health System
This panel specifically test the ACADM gene.
More info about this panel United States.
Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency: ACADM Sequencing Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the ACADM gene.
More info about this panel United States.
Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency: ACADM Del-Dup Targeted Exonic Microarray Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the ACADM gene.
More info about this panel United States.
Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency: ACADM Sequencing Common Mutation (K304E) Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the ACADM 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.
Medium Chain Acyl-CoA dehydrogenase deficiency Panel
United States.
By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories
This panel specifically test the ACADM gene.
More info about this panel United States.
Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Panel
United States.
By Genetics Laboratory Shodair Children's Hospital
This panel specifically test the ACADM gene.
More info about this panel United States.
ACADM 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 ACADM gene.
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.
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.
ACADM 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 ACADM gene.
More info about this panel United States.
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada"
This panel specifically test the ACADM gene.
More info about this panel Argentina.
MCAD Deficiency (ACADM) Sequencing Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the ACADM gene.
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.
ACADM Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the ACADM gene.
More info about this panel United States.
ACADM Select Exons Sequencing Panel
United States.
By GeneDx
This panel specifically test the ACADM gene.
More info about this panel United States.
ACADM Remaining Exons Sequencing Panel
United States.
By GeneDx
This panel specifically test the ACADM gene.
More info about this panel United States.
Medium Chain Acyl-Coenzyme A 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 ACADM gene.
More info about this panel Czech Republic.
Medium Chain Acyl-Coenzyme Dehydrogenase Deficiency Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the ACADM 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.
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.
ACADM. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ACADM gene.
More info about this panel Spain.
ACADM. Detection of the mutations c.199T>C and c.985A>G by sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ACADM gene.
More info about this panel Spain.
Medium-chain acyl-coenzyme A dehydrogenase deficiency Panel
Portugal.
By CGC Genetics
This panel specifically test the ACADM gene.
More info about this panel Portugal.
Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency (mutation A985G on ACADM gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ACADM gene.
More info about this panel Portugal.
Acyl-CoA medium-chain dehydrogenase deficiency (sequence analysis of ACADM gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ACADM gene.
More info about this panel Portugal.
Carnitine deficiency (NGS panel for 6 genes) Panel
Portugal.
By CGC Genetics Carnitine deficiency (NGS panel for 6 genes) that also includes the following genes: SLC22A5 SLC25A20 CPT1A CPT1B CPT2 ACADM
More info about this panel Portugal.
Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency Panel
Poland.
By Laboratory of Genetics BioTe21 Adam Master
This panel specifically test the ACADM gene.
More info about this panel Poland.
Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency Panel
India.
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the ACADM gene.
More info about this panel India.
MCAD Deficiency Panel
Netherlands.
By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center
This panel specifically test the ACADM gene.
More info about this panel Netherlands.
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.
Medium Chain Acyl-CoA Dehydrogenase Deficiency via ACADM Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the ACADM gene.
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.
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.
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.
Newborn: Cardiomyopathy as presenting sign Panel
Germany.
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 panel Germany.
ACADM Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the ACADM gene.
More info about this panel Germany.
Heart Diseases - panels Panel
Germany.
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 panel Germany.
Neurogenetic Disorders - panels Panel
Germany.
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panel Germany.
Mitochondrial Diseases Panel
Germany.
By MGZ Medical Genetics Center Mitochondrial Diseases that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC22A5 SLC25A12
More info about this panel Germany.
Mitochondrial Cardiomyopathy Panel
Germany.
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 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.
Infancy: Cardiomyopathies Panel
Germany.
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 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.
medium Chain Acyl CoA Dehydrogenase Deficiency Panel
Germany.
By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München
This panel specifically test the ACADM gene.
More info about this panel Germany.
Comprehensive mitochondrial disorders panel Panel
Germany.
By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC
More info about this panel Germany.
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.
Acyl-CoA, medium-chain, dehydrogenase deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ACADM 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.
Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency - ACADM Panel
Sweden.
By Centre for Inherited Metabolic Diseases Karolinska University Hospital
This panel specifically test the ACADM gene.
More info about this panel Sweden.
Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) Panel
Poland.
By Laboratory of Human Genetics GENOMED Health Care Center
This panel specifically test the ACADM 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.
Inherited Cardiovascular Diseases and Sudden Death Panel Panel
Spain.
By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA
More info about this panel Spain.
Ventricular Arrythmia & Sudden Death Panel without Structural Heart Disease Panel
Spain.
By Health in Code Ventricular Arrythmia & Sudden Death Panel without Structural Heart Disease that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SNTA1 TNNC1 TNNI3 TNNT2
More info about this panel Spain.
ACADM Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the ACADM gene.
More info about this panel Austria.
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 C6, C8 and C10 Test Panel
United States.
By Invitae
This panel specifically test the ACADM gene.
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.
Invitae Medium Chain Acyl-CoA Dehydrogenase Deficiency Test Panel
United States.
By Invitae
This panel specifically test the ACADM gene.
More info about this panel United States.
Medium-chain acyl-CoA dehydrogenase deficiency (MCAD): ACADM gene mutation analysis (K304E) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ACADM gene.
More info about this panel Spain.
Medium-chain acyl-CoA dehydrogenase deficiency (MCAD): ACADM gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ACADM gene.
More info about this panel Spain.
Medium Chain Acyl Co-A Dehydrogenase (MCADD): ACADM Full Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the ACADM gene.
More info about this panel United States.
Medium Chain Acyl Co-A Dehydrogenase (MCADD): ACADM Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the ACADM gene.
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.
Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency, Full Gene Analysis Panel
United States.
By Mayo Clinic Genetic Testing Laboratories Mayo Clinic
This panel specifically test the ACADM gene.
More info about this panel United States.
MCAD Deficiency (ACADM) Panel
United States.
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the ACADM 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.
ACADM Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ACADM gene.
More info about this panel United States.
Medium Chain Acyl-CoA Dehydrogenase (MCAD) Gene Sequencing Panel
United States.
By Quest Diagnostics Nichols Institute San Juan Capistrano
This panel specifically test the ACADM gene.
More info about this panel United States.
Medium Chain Acyl-CoA Dehydrogenase (MCAD) Mutation Analysis Panel
United States.
By Quest Diagnostics Nichols Institute San Juan Capistrano
This panel specifically test the ACADM gene.
More info about this panel United States.
Medium Chain Acyl-CoA Dehydrogenase (MCAD) Mutation Analysis (NY) Panel
United States.
By Quest Diagnostics Nichols Institute San Juan Capistrano
This panel specifically test the ACADM gene.
More info about this panel United States.
Medium Chain AcylCoA Dehydrogenase Deficiency (MCAD) Panel
United States.
By Pro Genetic Laboratory/ (DBA) University Childrens' Genetics Laboratory
This panel specifically test the ACADM gene.
More info about this panel United States.
Hyperammonemia and Urea Cycle Disorder Panel Panel
Finland.
By Blueprint Genetics Hyperammonemia and Urea Cycle Disorder Panel that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SLC7A7 SUCLA2 SUCLG1 UMPS SLC25A20 NBAS NAGS
More info about this panel Finland.
Comprehensive Metabolism Panel Panel
Finland.
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel Finland.
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.
Medium chain acyl-CoA dehydrogenase deficiency Panel
Spain.
By Bioarray
This panel specifically test the ACADM 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.
Medium Chain Acyl CoA Dehydrogenase Deficiency , Sequencing ACADM Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ACADM gene.
More info about this panel Spain.
AcylCoA Dehydrogenase Medium Chain (MCAD) Deficiency , Mutation (K304E) ACADMGene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ACADM 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.
Ventricular Arrhythmia and Sudden Cardiac Death , Panel Massive Sequencing (NGS) 48 Genes Panel
Spain.
By Reference Laboratory Genetics Ventricular Arrhythmia and Sudden Cardiac Death , Panel Massive Sequencing (NGS) 48 Genes that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SNTA1 TGFB3 TNNC1 TNNI3
More info about this panel Spain.
planTrue Extended Panel
United States.
By True Health Diagnostics planTrue Extended that also includes the following genes: RMRP RS1 BLM SLC17A5 SLC22A5 SLC26A2 SMN1 SMPD1 BTD TNNT1
More info about this panel United States.
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.
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Full gene sequencing (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the ACADM gene.
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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