Long-chain 3-hydroxyacyl-coa Dehydrogenase Deficiency

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Long-chain 3-hydroxyacyl-coa Dehydrogenase Deficiency

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Myopathy
  • Nevus
  • Peripheral neuropathy
  • Feeding difficulties
And another 52 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available Long-chain 3-hydroxyacyl-coa Dehydrogenase Deficiency have a estimated birth prevalence of 1 per 100k worldwide.


Mendelian

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Long-chain 3-hydroxyacyl-coa Dehydrogenase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
Trifunctional Protein Deficiency Comprehensive Panel (Sequencing and Deletion/Duplication Analysis).

By Baylor Miraca Genetics Laboratories in United States.

HADHA, HADHB
Specificity
50 %
Genes
100 %
Trifunctional Protein Deficiency Panel.

By Baylor Miraca Genetics Laboratories in United States.

HADHA, HADHB
Specificity
50 %
Genes
100 %
Trifunctional Protein Deficiency Deletion/Duplication Panel.

By Baylor Miraca Genetics Laboratories in United States.

HADHA, HADHB
Specificity
50 %
Genes
100 %
Trifunctional Protein Deficiency Panel.

By Baylor Miraca Genetics Laboratories in United States.

HADHA, HADHB
Specificity
50 %
Genes
100 %
HADHA Common Mutation Panel.

By Baylor Miraca Genetics Laboratories in United States.

HADHA
Specificity
100 %
Genes
100 %
HADHA Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

HADHA
Specificity
100 %
Genes
100 %
HADHA Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

HADHA
Specificity
100 %
Genes
100 %
HADHA Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

HADHA
Specificity
100 %
Genes
100 %
Fatty Acid Oxidation Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories in United States.

ACAD9, ACADL, ACADM, ACADS, ACADVL, CPT2, HADHA, HADHB, TAZ, LPIN1, CPT1A, ETFB, ETFA, ETFDH, SLC22A5, SLC25A20, CPT1B
Specificity
6 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
Non-immune Hydrops Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

COL2A1, GNPTAB, GLB1, HADHA, RAF1, SMPD1, RPL35A, HADHB, ALG9, ALG1, CTSA, GUSB, GALNS, GBE1, PMM2, FGFR3, GBA, BRAF, DHCR7, GLA , (...)

View the complete list with 67 more genes
Specificity
2 %
Genes
100 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ACADM, AGL, ACADVL, ALDOA, TWNK, GAA, SLC16A1, CPT2, POLG, RRM2B, HADHA, DGUOK, PGM1, LDHA, ENO3, SUCLA2, TSFM, TK2, HADHB, PHKA1 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ACADM, AGL, ACADVL, ALDOA, TWNK, GAA, SLC16A1, CPT2, POLG, RRM2B, HADHA, DGUOK, PGM1, LDHA, ENO3, SUCLA2, TSFM, TK2, HADHB, PHKA1 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency - HADHA Del/dup Analysis.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

HADHA
Specificity
100 %
Genes
100 %
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency - HADHA Targeted Mutation.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

HADHA
Specificity
100 %
Genes
100 %
Comprehensive Mitochondrial Metabolic Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, AGL, ACADVL, ACAT1, YARS2, PC, GYS2, UQCRQ, ARG1, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2 , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
100 %
Fatty Acid Oxidation Deficiency.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

ACAD9, ACADL, ACADM, ACADS, ACADVL, CPT2, HSD17B10, HADHA, HMGCL, HADHB, GLUD1, HMGCS2, TAZ, LPIN1, CPT1A, ETFB, ETFA, ETFDH, SLC22A5, SLC25A20 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Trifunctional Protein Deficiency.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

HADHA, HADHB
Specificity
50 %
Genes
100 %
MetaboSeq Fatty Acid Oxidation Disorders Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ACAD9, ACADM, ACADS, ACADVL, PPARG, CPT2, HSD17B10, HADHA, HMGCL, HADHB, GLUD1, TAZ, CPT1A, ETFB, ETFA, ETFDH, SLC22A5, SLC25A20, HADH
Specificity
6 %
Genes
100 %
HADHA Genotype Analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

HADHA
Specificity
100 %
Genes
100 %
HADHA Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

HADHA
Specificity
100 %
Genes
100 %
MetaboSeq Fatty Acid Oxidation Disorders deletion/duplication panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ACAD9, ACADM, ACADS, ACADVL, PPARG, CPT2, HSD17B10, HADHA, HMGCL, HADHB, TAZ, CPT1A, ETFB, ETFA, ETFDH, SLC22A5, SLC25A20, HADH
Specificity
6 %
Genes
100 %
HADHA Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

HADHA
Specificity
100 %
Genes
100 %
Hypoparathyroidism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

HADHA, CYP24A1, HADHB, AIRE, CHD7, PRKAR1A, CASR, TBX1, GATA3, GNAS, GNA11, PDE4D, STX16, PTH, GCM2, FAM111A, TBCE
Specificity
6 %
Genes
100 %
Hypoparathyroidism sequencing panel.

By Genetic Services Laboratory University of Chicago in United States.

HADHA, CYP24A1, HADHB, AIRE, PRKAR1A, CASR, TBX1, GATA3, GNAS, GNA11, PDE4D, STX16, PTH, GCM2, FAM111A, TBCE, CDH7
Specificity
6 %
Genes
100 %
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

MCCC2, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRQ, UQCRB, ATPAF2, BCKDHA, BCKDHB, BCS1L, TWNK, CPT2, OPA1, TRMU, WFS1, DLD , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
100 %
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague in Czech Republic.

HADHA
Specificity
100 %
Genes
100 %
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.

By Molecular Diagnostic Laboratory University of Alberta in Canada.

HADHA
Specificity
100 %
Genes
100 %
Fatty acid metabolism/ketogenesis disorders.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

ACAD9, ACADM, ACADVL, CPT2, HADHA, HMGCL, HADHB, HMGCS2, CPT1A, ETFB, ETFA, ETFDH, SLC22A5, SLC25A20, CPT1B, HADH, SLC52A1
Specificity
6 %
Genes
100 %
Mitochondrial Trifunctional Protein deficiency.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

HADHA, HADHB, HADH
Specificity
34 %
Genes
100 %
Fatty acid metabolism/ketogenesis disorders.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

ACAD9, ACADM, ACADVL, CPT2, HADHA, HMGCL, HADHB, HMGCS2, CPT1A, ETFB, ETFA, ETFDH, SLC22A5, SLC25A20, CPT1B, HADH, SLC52A1
Specificity
6 %
Genes
100 %
Rhabdomyolysis.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

AGL, ACADVL, ALDOA, GAA, CPT2, HADHA, PGM1, LDHA, ENO3, GYS1, HADHB, PHKA1, LPIN1, PGAM2, ISCU, PFKM, PYGM, GBE1, ETFB, ETFA , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
HADHA. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

HADHA
Specificity
100 %
Genes
100 %
HADHA. Detection of the mutation p.Glu510Gln.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

HADHA
Specificity
100 %
Genes
100 %
LCHAD deficiency (sequence analysis of HADHA gene).

By CGC Genetics in Portugal.

HADHA
Specificity
100 %
Genes
100 %
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (E510Q mutation of HADHA gene).

By CGC Genetics in Portugal.

HADHA
Specificity
100 %
Genes
100 %
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.

By Laboratory of Genetics HUSLAB in Finland.

HADHA
Specificity
100 %
Genes
100 %
MTP deficiency (HADHA and HADHB genes).

By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center in Netherlands.

HADHA, HADHB
Specificity
50 %
Genes
100 %
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.

By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center in Netherlands.

HADHA
Specificity
100 %
Genes
100 %
Hypoparathyroidism Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HADHA, HADHB, AIRE, CASR, GATA3, PTH1R, SOX3, GNAS, GNA11, AP2S1, STX16, PTH, GCM2, FAM111A, TBCE
Specificity
7 %
Genes
100 %
Hyperammonemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MCCC1, MCCC2, ACADM, ACADS, ACADVL, ARG1, HLCS, MMACHC, CPS1, CPT2, SLC25A13, HADHA, TMEM70, HADHB, GLUD1, PCCB, PCCA, HMGCS2, OTC, MMADHC , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Comprehensive Cardiology Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, TTR, GAA, COL3A1, ELN, EYA4, JAG1, DSP, SLC25A4, CRYAB, HADHA, RAF1, FBN1, GCKR, DNAJC19, SCO2, TAZ, COX15, CBS, ALMS1 , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Trifunctional Protein Deficiency and Long-Chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency via HADHA Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HADHA
Specificity
100 %
Genes
100 %
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

ACAD9, ACADM, ACADS, AGL, ACADVL, ALDOA, TWNK, GAA, AMACR, CPT2, OPA1, POLG, RRM2B, HADHA, OPA3, COQ9, PDSS2, PDSS1, PGM1, LDHA , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Disorders of Fatty Acid Oxidation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, PPARG, CPT2, HSD17B10, HADHA, HMGCL, ACADSB, HADHB, HMGCS2, TAZ, LPIN1, CPT1A, MLYCD, ETFB, ETFA , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AARS2, ACAD9, YARS2, UQCRQ, UQCRB, ATP5F1E, ATPAF2, BCS1L, TWNK, C12orf65, ELAC2, OPA1, TRMU, DLD, POLG, NDUFS4, SLC25A4, GARS, AFG3L2, FOXRED1 , (...)

View the complete list with 154 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Trifunctional Protein Deficiency and Long-Chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HADHA, HADHB
Specificity
50 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
Metabolic Myopathy / Fatty Acid Oxidation Disorder / Myalgia / Rhabdomyolysis.

By MGZ Medical Genetics Center in Germany.

ACADM, ACADS, AGL, ACADVL, GAA, AMACR, CPT2, HADHA, PNPLA2, HADHB, ABHD5, LPIN1, ISCU, PFKM, PYGM, ETFB, ETFA, ETFDH, SLC22A5, DMD , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Neuropathy.

By MGZ Medical Genetics Center in Germany.

TTR, ABHD12, ATP7A, C12orf65, GAA, FBLN5, OPTN, AMACR, POLG, GARS, MFN2, HADHA, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, SQSTM1 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
100 %
HADHA.

By MGZ Medical Genetics Center in Germany.

HADHA
Specificity
100 %
Genes
100 %
Muscle Pain - fluctuating CK - Rhabdomyolysis.

By MGZ Medical Genetics Center in Germany.

TTR, ACADM, ACADS, ACADVL, GAA, CPT2, HADHA, HADHB, LPIN1, PYGM, ETFB, ETFA, ETFDH, SEPT9, DMD, DNM2, CLCN1, FKRP, DYSF, SCN4A , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Muscle Weakness (Myopathy, Muscular Dystrophy).

By MGZ Medical Genetics Center in Germany.

TTR, ACAD9, ACADM, ACADS, AGL, ACADVL, TWNK, GAA, TUBB3, AMACR, CPT2, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, MFN2, CRYAB, HADHA , (...)

View the complete list with 159 more genes
Specificity
1 %
Genes
100 %
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR).

By MGZ Medical Genetics Center in Germany.

ACADM, AGL, ACADVL, GAA, CPT2, GNE, TRIM32, POLG, RRM2B, CRYAB, HADHA, VCP, PNPLA2, TK2, HADHB, PUS1, ABHD5, LPIN1, ISCU, PYGM , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Comprehensive mitochondrial disorders panel.

By Centogene AG - the Rare Disease Company in Germany.

MCCC1, MCCC2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRB, HLCS, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, STAR, MTRR , (...)

View the complete list with 160 more genes
Specificity
1 %
Genes
100 %
Trifunctional protein deficiency.

By Centogene AG - the Rare Disease Company in Germany.

HADHA
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

By Centogene AG - the Rare Disease Company in Germany.

HADHA
Specificity
100 %
Genes
100 %
Metabolic Myopathies Panel.

By CeGaT GmbH in Germany.

ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, YARS2, GAA, SLC16A1, CPT2, RRM2B, HADHA, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PNPLA2, POLG2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Nuclear encoded Mitochondriopathies Panel.

By CeGaT GmbH in Germany.

MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %
Charcot-Marie-Tooth and Sensory Neuropathies Panel.

By CeGaT GmbH in Germany.

TTR, ABHD12, TWNK, C12orf65, FBLN5, OPA1, POLG, GARS, KIF1B, MFN2, HADHA, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, AIFM1, SURF1, HK1 , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
100 %
HAHDH - Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.

By Centre for Inherited Metabolic Diseases Karolinska University Hospital in Sweden.

HADHA
Specificity
100 %
Genes
100 %
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

HADHA
Specificity
100 %
Genes
100 %
Mitochondrial Diseases (mtDNA and 133 nuclear genes).

By Asper Biogene Asper Biogene LLC in Estonia.

AARS2, ACAD9, ACADL, ACADM, ACADS, ACADVL, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB, HLCS, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, C12orf65, SLC37A4 , (...)

View the complete list with 112 more genes
Specificity
1 %
Genes
100 %
Fatty Acid Oxidation Disorder.

By Asper Biogene Asper Biogene LLC in Estonia.

ACAD9, ACADM, ACADS, ACADVL, PPARG, CPT2, HSD17B10, HADHA, HMGCL, HADHB, GLUD1, HMGCS2, TAZ, CPT1A, ETFB, ETFA, ETFDH, SLC22A5, SLC25A20, HADH
Specificity
5 %
Genes
100 %
Metabolic Myopathy and Rhabdomyolysis.

By Asper Biogene Asper Biogene LLC in Estonia.

ACAD9, ACADM, AGL, ACADVL, ALDOA, TWNK, GAA, CPT2, OPA1, POLG, RRM2B, HADHA, OPA3, PGM1, LDHA, ENO3, SUCLA2, GYS1, PNPLA2, POLG2 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Family Prep Screen.

By Counsyl in United States.

F2, F5, FMR1, HFE, MTHFR, ACADM, ACADS, AGL, ACADVL, ALDOB, ALPL, BTD, ATP7B, BCKDHB, BCS1L, GAA, HBB, CHM, SLC37A4, HSD17B4 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
100 %
Invitae Elevated C16-OH, C16:1-OH, C18-OH and C18:1-OH Panel.

By Invitae in United States.

HADHA, HADHB
Specificity
50 %
Genes
100 %
Invitae Metabolic Disorders Newborn Screening Confirmation Panel.

By Invitae in United States.

MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, PC, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, MMACHC, MTR, MTRR, CPS1, CPT2, PRODH , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Invitae Fatty Acid Oxidation Defects Panel.

By Invitae in United States.

ACADM, ACADS, ACADVL, CPT2, HADHA, HMGCL, ACADSB, HADHB, HMGCS2, CPT1A, MLYCD, ETFB, ETFA, ETFDH, SLC22A5, SLC25A20, HADH, NADK2
Specificity
6 %
Genes
100 %
Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (LCHAD): HADHA Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HADHA
Specificity
100 %
Genes
100 %
Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (LCHAD): HADHA Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HADHA
Specificity
100 %
Genes
100 %
Trifunctional Protein Deficiency: Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HADHA, HADHB
Specificity
50 %
Genes
100 %
Trifunctional Protein Deficiency: Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HADHA, HADHB
Specificity
50 %
Genes
100 %
Inherited Metabolic Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, PC, GYS2, HLCS, ATPAF2, AUH, BCKDHA, BCKDHB, GAA, MMACHC, MTR, SLC37A4, MTRR , (...)

View the complete list with 81 more genes
Specificity
1 %
Genes
100 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4 , (...)

View the complete list with 127 more genes
Specificity
1 %
Genes
100 %
LCHAD Deficiency (HADHA).

By Integrated Genetics Westborough Integrated Genetics in United States.

HADHA
Specificity
100 %
Genes
100 %
Inheritest NGS, Comprehensive.

By Integrated Genetics Westborough Integrated Genetics in United States.

FMR1, ACADM, AGL, ACADVL, ACAT1, ALDOB, ALPL, HLCS, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPS1, CPT2, GNPTAB , (...)

View the complete list with 120 more genes
Specificity
1 %
Genes
100 %
Myopathy-Rhabdomyolysis NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ACAD9, ACADL, ACADM, AGL, ACADVL, TWNK, GAA, CPT2, OPA1, POLG, RRM2B, HADHA, OPA3, PGM1, SUCLA2, GYS1, POLG2, TK2, HADHB, TYMP , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
100 %
Fatty Acid Oxidation Deficiency NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ACAD9, ACADL, ACADM, ACADS, ACADVL, CPT2, HSD17B10, HADHA, HMGCL, HADHB, GLUD1, HMGCS2, TAZ, LPIN1, CPT1A, ETFB, ETFA, ETFDH, SLC22A5, SLC25A20 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
HADHA.

By Fulgent Genetics Fulgent Genetics in United States.

HADHA
Specificity
100 %
Genes
100 %
Long Chain Acyl-CoA Dehydrogenase (LCHAD) Mutation Analysis.

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

HADHA
Specificity
100 %
Genes
100 %
Long Chain Acyl-CoA Dehydrogenase (LCHAD) Mutation Analysis (NY).

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

HADHA
Specificity
100 %
Genes
100 %
Long Chain 3-OH AcylCoA Dehydrogenase Deficiency (LCHAD).

By Pro Genetic Laboratory/ (DBA) University Childrens' Genetics Laboratory in United States.

HADHA
Specificity
100 %
Genes
100 %
Cardiomyopathy Panel.

By Blueprint Genetics in Finland.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1 , (...)

View the complete list with 135 more genes
Specificity
1 %
Genes
100 %
Hyperammonemia and Urea Cycle Disorder Panel.

By Blueprint Genetics in Finland.

MCCC1, MCCC2, ACADM, ACADS, ACADVL, PC, ARG1, HLCS, BCKDHA, BCKDHB, MMACHC, CPS1, CPT2, DLD, SLC25A13, HADHA, TMEM70, HMGCL, SUCLA2, HADHB , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Arrhythmia Panel.

By Blueprint Genetics in Finland.

DSP, HADHA, LMNA, CAV3, TTN, DES, LDB3, BAG3, TMEM43, KCNJ2, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, TRPM4, ABCC9, SCN3B , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
Comprehensive Cardiology Panel.

By Blueprint Genetics in Finland.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1 , (...)

View the complete list with 165 more genes
Specificity
1 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Fatty Acid Oxidation Syndrome Panel.

By Blueprint Genetics in Finland.

ACAD9, ACADL, ACADM, ACADS, ACADVL, PPARG, CPT2, HSD17B10, HADHA, HMGCL, ACAD8, ACADSB, HADHB, GLUD1, HMGCS2, TAZ, ALDH5A1, LPIN1, CPT1A, ETFB , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Metabolic Myopathy and Rhabdomyolysis Panel.

By Blueprint Genetics in Finland.

ACAD9, ACADL, ACADM, AGL, ACADVL, ALDOA, TWNK, GAA, CPT2, OPA1, POLG, RRM2B, HADHA, OPA3, PGM1, LDHA, ENO3, SUCLA2, COQ8A, GYS1 , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

By Bioarray in Spain.

HADHA
Specificity
100 %
Genes
100 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
100 %
Baby Genes Targeted Panel.

By Baby Genes Inc. Baby Genes Inc. in United States.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, DLD, SLC25A13 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
LONG CHAIN 3- HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (LCHAD).

By Laboratorio de Genetica Clinica SL in Spain.

HADHA
Specificity
100 %
Genes
100 %
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency , Sequencing HADHA Gene.

By Reference Laboratory Genetics in Spain.

HADHA
Specificity
100 %
Genes
100 %
Fatty Acid Oxidation Related Disorders , Panel Massive Sequencing (NGS) 19 Genes.

By Reference Laboratory Genetics in Spain.

ACAD9, ACADM, ACADS, ACADVL, PPARG, CPT2, HSD17B10, HADHA, HMGCL, HADHB, GLUD1, TAZ, CPT1A, ETFB, ETFA, ETFDH, SLC22A5, SLC25A20, HADH
Specificity
6 %
Genes
100 %
CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, HSD17B10 , (...)

View the complete list with 79 more genes
Specificity
2 %
Genes
100 %
CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, HSD17B10 , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
100 %
LCHAD deficiency (Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency): Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HADHA
Specificity
100 %
Genes
100 %
Trifunctional protein deficiency : Full gene panel sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HADHA, HADHB
Specificity
50 %
Genes
100 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYR, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
100 %

Alternate names

Long-chain 3-hydroxyacyl-coa Dehydrogenase Deficiency Is also known as lchad deficiency;lchad deficiency; lchadd; long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency.


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