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.

Mendelian

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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

SOURCES: ORPHANET OMIM MESH

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


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

ACADM Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ACADM gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

ACADM Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the ACADM gene.

More info about this panel

ACADM Select Exons Sequencing Panel

United States.

By GeneDx

This panel specifically test the ACADM gene.

More info about this panel

ACADM Remaining Exons Sequencing Panel

United States.

By GeneDx

This panel specifically test the ACADM gene.

More info about this panel

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

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

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

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

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

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

Medium-chain acyl-coenzyme A dehydrogenase deficiency Panel

Portugal.

By CGC Genetics

This panel specifically test the ACADM gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

ACADM Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the ACADM gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

ACADM Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the ACADM gene.

More info about this panel

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

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

Invitae Elevated C6, C8 and C10 Test Panel

United States.

By Invitae

This panel specifically test the ACADM gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

MCAD Deficiency (ACADM) Panel

United States.

By Integrated Genetics Westborough Integrated Genetics

This panel specifically test the ACADM gene.

More info about this panel

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

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

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

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

ACADM Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ACADM gene.

More info about this panel

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

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

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

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

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

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

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

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

Medium chain acyl-CoA dehydrogenase deficiency Panel

Spain.

By Bioarray

This panel specifically test the ACADM gene.

More info about this panel

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

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

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

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

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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

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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

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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

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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

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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

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

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