Carnitine Palmitoyltransferase Ii Deficiency, Infantile

Description

Carnitine palmitoyltransferase II deficiency is an inherited disorder of mitochondrial long-chain fatty acid oxidation. The infantile form usually presents between 6 and 24 months of age with recurrent attacks of hypoketotic hypoglycemia causing loss of consciousness and seizures, liver failure, and transient hepatomegaly. Some children also have heart involvement with cardiomyopathy and arrhythmia. Episodes are triggered by infections, fever, or fasting. Laboratory studies usually indicate hyperammonemia, metabolic acidosis, and hypoketotic hypoglycemia with elevated levels of creatine kinase (summary by Longo et al., 2006).See also the lethal neonatal (OMIM ) and adult-onset (OMIM ) forms of the disorder, which are also caused by mutation in the CPT2 gene.

Clinical Features

Top most frequent phenotypes and symptoms related to Carnitine Palmitoyltransferase Ii Deficiency, Infantile

  • Seizures
  • Myopathy
  • Hepatomegaly
  • Cardiomyopathy
  • Coma
  • Arrhythmia
  • Vomiting
  • Respiratory distress
  • Elevated serum creatine phosphokinase
  • Encephalopathy
And another 20 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Carnitine Palmitoyltransferase Ii Deficiency, Infantile 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 %
CPT2 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

CPT2
Specificity
100 %
Genes
100 %
CPT2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

CPT2
Specificity
100 %
Genes
100 %
CPT2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

CPT2
Specificity
100 %
Genes
100 %
CPT2 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

CPT2
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 %
GeneAware Ashkenazi Jewish Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, ATP7B, BCKDHB, CPT2, CLRN1, PCDH15, DLD, SMPD1, DHDDS, FAH, G6PC, HEXA, GALT, PMM2, BBS2, ASPA, ELP1, CFTR, FANCC, GBA , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
GeneAware Ashkenazi Jewish Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

ATP7B, BCKDHB, CPT2, CLRN1, PCDH15, DLD, SMPD1, DHDDS, FAH, G6PC, HEXA, GALT, PMM2, BBS2, ASPA, ELP1, CFTR, FANCC, GBA, BLM , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations.

By Athena Diagnostics Inc in United States.

PAX6, CPT2, SHH, SLC25A19, TUBA1A, FGFR3, ARX, WDR62, FKTN, PEX7, POMGNT1, DPYD, FKRP, POMT2, POMT1, LAMA2, LARGE1, MCPH1, ASPM, FOLR1 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

UBE3A, ALPL, ADSL, PAX6, CPT2, ATP6V0A2, HSD17B10, HPRT1, ADGRV1, SHH, POLG, SLC25A19, PANK2, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, SUCLA2 , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
Carnitine Palmitoyltransferase II Deficiency.

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

CPT2
Specificity
100 %
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 %
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 %
CPT2 Sequencing.

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

CPT2
Specificity
100 %
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 %
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 %
CPT2 Deleton/duplication analysis.

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

CPT2
Specificity
100 %
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 %
CPT2 Gene Sequencing.

By GeneDx in United States.

CPT2
Specificity
100 %
Genes
100 %
Carnitine palmitoyltransferase II 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.

CPT2
Specificity
100 %
Genes
100 %
Carnitine Palmitoyltransferase II Deficiency.

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

CPT2
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 %
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 %
CPT2. Complete sequencing.

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

CPT2
Specificity
100 %
Genes
100 %
CPT2. Detection of the mutations p.Ser113Leu, p.Lys414Thrfs*7 , p.Pro50His, p.Arg503Cys, p.Gly549Asp and p.Met214Thr by sequencing.

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

CPT2
Specificity
100 %
Genes
100 %
Carnitine palmitoyltransferase II deficiency (sequence analysis of CPT2 gene).

By CGC Genetics in Portugal.

CPT2
Specificity
100 %
Genes
100 %
Epileptic encephalopathy (NGS panel for 67 genes).

By CGC Genetics in Portugal.

MTHFR, UBE3A, ADSL, CPT2, MECP2, GAMT, STXBP1, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH7A1, WWOX, ARX, CDKL5, FOXG1, PCDH19, SLC2A1, SYNGAP1 , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
100 %
Carnitine deficiency (NGS panel for 6 genes).

By CGC Genetics in Portugal.

ACADM, CPT2, CPT1A, SLC22A5, SLC25A20, CPT1B
Specificity
17 %
Genes
100 %
CPT2 Sequence Analysis.

By Translational Metabolic Laboratory Radboud University Medical Centre in Netherlands.

CPT2
Specificity
100 %
Genes
100 %
Carnitine Palmitoyltransferase II Deficiency.

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

CPT2
Specificity
100 %
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 %
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 %
Carnitine Palmitoyltransferase II Deficiency via CPT2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CPT2
Specificity
100 %
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 %
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 %
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 %
Newborn: Cardiomyopathy as presenting sign.

By MGZ Medical Genetics Center in Germany.

ACAD9, ACADM, ACADS, ACADVL, GAA, CPT2, MTO1, AGK, TMEM70, SLC25A3, GFM1, SCO2, TAZ, LPIN1, COX15, CPT1A, GBE1, SLC22A5, SLC25A20, SDHA , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Carnitine Palmitoyltransferase II Deficiency.

By MGZ Medical Genetics Center in Germany.

CPT2
Specificity
100 %
Genes
100 %
Heart Diseases - panels.

By MGZ Medical Genetics Center in Germany.

TTR, AARS2, ACAD9, ACADM, ACADS, AGL, ACADVL, GAA, ELN, CPT2, GNE, JAG1, DSP, CRYAB, RAF1, VCP, FBN1, MTO1, AGK, TMEM70 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Diseases.

By MGZ Medical Genetics Center in Germany.

AARS2, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, UQCRB, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, C12orf65, SDHAF2, CPT2, OPA1, TRMU , (...)

View the complete list with 148 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Myopathy.

By MGZ Medical Genetics Center in Germany.

ACADVL, TWNK, CPT2, POLG, RRM2B, TK2, PUS1, ISCU, ETFB, ETFA, ETFDH, SLC22A5, CHKB, LAMP2, FDX2
Specificity
7 %
Genes
100 %
Mitochondrial Cardiomyopathy.

By MGZ Medical Genetics Center in Germany.

AARS2, ACAD9, ACADM, ACADS, ACADVL, CPT2, MTO1, AGK, TMEM70, SLC25A3, GFM1, SCO2, TAZ, COX15, CPT1A, SLC22A5, SLC25A20, SDHA, LAMP2
Specificity
6 %
Genes
100 %
Episodic Ataxia and Phenocopies.

By MGZ Medical Genetics Center in Germany.

ACADVL, ARG1, BCKDHA, BCKDHB, CPS1, CPT2, DARS2, PNPLA2, OTC, PDHA1, ABHD5, DBT, IVD, SLC25A15, ETFB, ETFA, ETFDH, ASS1, SLC22A5, ASL , (...)

View the complete list with 9 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 %
Infancy: Cardiomyopathies.

By MGZ Medical Genetics Center in Germany.

AARS2, ACAD9, ACADM, ACADS, ACADVL, CPT2, DSP, RAF1, MTO1, AGK, TMEM70, SLC25A3, SCO2, TAZ, COX15, CPT1A, SLC22A5, SLC25A20, SDHA, GLA , (...)

View the complete list with 3 more genes
Specificity
5 %
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 %
Metabolic disease with epilepsy panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

MTHFR, ADSL, CPT2, GAMT, CTSD, GCSH, GLDC, AMT, ALDH7A1, TPP1, CLN3, SLC2A1, CLN6, CLN8, PPT1, CLN5, FOLR1, PNPO, DNAJC5, MFSD8 , (...)

View the complete list with 4 more genes
Specificity
5 %
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 %
Metabolic myopathies panel.

By Centogene AG - the Rare Disease Company in Germany.

AGL, ACADVL, GAA, CPT2, PGM1, LDHA, ENO3, GYS1, PNPLA2, TAZ, PHKA1, ABHD5, LPIN1, PGAM2, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH , (...)

View the complete list with 5 more genes
Specificity
4 %
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 %
Carnitine palmitoyltransferase II deficiency.

By Centogene AG - the Rare Disease Company in Germany.

CPT2
Specificity
100 %
Genes
100 %
Epileptic Encephalopathy Panel.

By CeGaT GmbH in Germany.

MTHFR, UBE3A, ADSL, CPT2, MECP2, GAMT, STXBP1, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH7A1, MOCS2, MOCS1, ARX, CDKL5, FOXG1, MEF2C, PCDH19 , (...)

View the complete list with 57 more genes
Specificity
2 %
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 %
Single gene testing CPT2.

By CeGaT GmbH in Germany.

CPT2
Specificity
100 %
Genes
100 %
Carnitine Palmitoyltransferase II Deficiency - CPT2.

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

CPT2
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 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
100 %
Dyslipidemias / Early atherosclerosis.

By Health in Code in Spain.

HNF1A, NEUROD1, PPARG, HNF1B, CPT2, WFS1, PCDH15, GCK, GPD1, CAVIN1, PNPLA2, MEF2A, COQ2, PYGM, LDLR, LEP, LIPA, MTTP, LMNA, APOE , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
100 %
Familial hypercholesterolemia Extended Panel.

By Health in Code in Spain.

CPT2, COQ2, PYGM, LDLR, LIPA, APOE, RYR1, ABCB1, AMPD1, ABCG5, ABCG8, CYP2D6, NPC1L1, PCSK9, LDLRAP1, APOB, SLCO1B1, CYP3A4, CYP3A5, SLC22A8 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Carnitine Palmitoyltransferase II Deficiency.

By Praxis fuer Humangenetik Wien in Austria.

CPT2
Specificity
100 %
Genes
100 %
Myopathy due to CPT II deficiency.

By Praxis fuer Humangenetik Wien in Austria.

CPT2
Specificity
100 %
Genes
100 %
CPT2.

By Division Human Genetics Medical University Innsbruck in Austria.

CPT2
Specificity
100 %
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 %
Carnitine Palmitoyltransferase II Deficiency.

By MedGene in Slovakia.

CPT2
Specificity
100 %
Genes
100 %
Myopathy due to CPT II deficiency.

By MedGene in Slovakia.

CPT2
Specificity
100 %
Genes
100 %
Invitae Elevated C16, C16:1, C18, and C18:1 Panel.

By Invitae in United States.

CPT2, SLC25A20
Specificity
50 %
Genes
100 %
Invitae Comprehensive Neuromuscular Disorders Panel.

By Invitae in United States.

GAA, CPT2, GNE, TRIM32, CRYAB, VCP, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, TAZ, CHAT, DPAGT1, DMD, SMN1, CHRNE, DOK7, FKTN, NEB , (...)

View the complete list with 84 more genes
Specificity
1 %
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 Cardiomyopathy and Skeletal Muscle Disease Panel.

By Invitae in United States.

TTR, AGL, GAA, EYA4, CPT2, GNE, TRIM32, DSP, CRYAB, RAF1, VCP, DPM3, PNPLA2, DPM1, SQSTM1, TAZ, SLC22A5, DOLK, DMD, GLA , (...)

View the complete list with 93 more genes
Specificity
1 %
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 %
Invitae Comprehensive Myopathy Panel.

By Invitae in United States.

CPT2, GNE, CRYAB, VCP, SQSTM1, NEB, DNM2, LMNA, CAV3, DYSF, SCN4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Carnitine Palmitoyltransferase type 2 deficiency: CPT2 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

CPT2
Specificity
100 %
Genes
100 %
Carnitine Palmitoyltransferase type 2 deficiency: CPT2 gene mutation analysis (p.Ser113Leu).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

CPT2
Specificity
100 %
Genes
100 %
METABOLIC MYOPATHIES.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

AGL, ACADVL, GAA, CPT2, PGM1, LDHA, ENO3, GYS1, PNPLA2, TAZ, PHKA1, ABHD5, LPIN1, PGAM2, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Carnitine Palmitoyltransferase II Deficiency: CPT2 Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

CPT2
Specificity
100 %
Genes
100 %
Carnitine Palmitoyltransferase II Deficiency: CPT2 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

CPT2
Specificity
100 %
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 %
CPT2 Gene, Full Gene Analysis.

By Mayo Clinic Genetic Testing Laboratories Mayo Clinic in United States.

CPT2
Specificity
100 %
Genes
100 %
Carnitine palmitoyltransferase II deficiency.

By Integrated Genetics Westborough Integrated Genetics in United States.

CPT2
Specificity
100 %
Genes
100 %
Inheritest NGS, Ashkenazi Jewish Ancestry Panel.

By Integrated Genetics Westborough Integrated Genetics in United States.

FMR1, ATP7B, BCKDHA, BCKDHB, CPT2, CLRN1, PCDH15, DLD, SMPD1, DHDDS, FAH, G6PC, HEXA, GALT, PMM2, BBS2, ASPA, ELP1, CFTR, FANCC , (...)

View the complete list with 18 more genes
Specificity
3 %
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 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 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 %
CPT2.

By Fulgent Genetics Fulgent Genetics in United States.

CPT2
Specificity
100 %
Genes
100 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
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 %
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 %
Epileptic Encephalopathy Panel.

By Blueprint Genetics in Finland.

HTT, MTHFR, UBE3A, ADSL, CPT2, POLG, NDUFS4, MECP2, DNM1L, TTC19, NUBPL, ABAT, GAMT, STXBP1, SLC25A22, GLDC, AMT, ETHE1, D2HGDH, SLC9A6 , (...)

View the complete list with 108 more genes
Specificity
1 %
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 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics in Finland.

HTT, MTHFR, UBE3A, ARG1, BTD, ADSL, AMACR, CPT2, PSAP, GLB1, PRODH, GNE, HSD17B10, POLG, NDUFS4, HSPD1, AFG3L2, FOXRED1, FH, MECP2 , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %
Carnitine palmitoyl transferase II deficiency.

By Bioarray in Spain.

CPT2
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 %
CARNITINE PALMITOYL TRANSFERASE DEFICIENCY.

By Laboratorio de Genetica Clinica SL in Spain.

CPT2, CPT1A
Specificity
50 %
Genes
100 %
Carnitine Palmitoyl Transferase Deficiency Type 2 (Myopathic Form), Sequencing CPT2 Gene.

By Reference Laboratory Genetics in Spain.

CPT2
Specificity
100 %
Genes
100 %
Carnitine Palmitoyl Transferase Deficiency Type 2 (Myopathic Form), Mutation(p.Ser113Leu) CPT2 Gene.

By Reference Laboratory Genetics in Spain.

CPT2
Specificity
100 %
Genes
100 %
Congenital Myopathy , Panel Massive Sequencing (NGS) 26 Genes.

By Reference Laboratory Genetics in Spain.

AGL, ACADVL, GAA, CPT2, PGM1, LDHA, ENO3, GYS1, PNPLA2, TAZ, PHKA1, ABHD5, LPIN1, PGAM2, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH , (...)

View the complete list with 6 more genes
Specificity
4 %
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 %
Carnitine palmitoyltransferase II deficiency.

By Labor Dr. Wisplinghoff in Germany.

CPT2
Specificity
100 %
Genes
100 %
Phosphorus Dilated Cardiomyopathy Including Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, ACADVL, EYA4, CPT2, DSP, CRYAB, RAF1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, DMD, FKTN, LMNA, FKRP, CAV3, TTN , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Phosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, ACADVL, GAA, ELAC2, EYA4, CPT2, DSP, CRYAB, RAF1, MTO1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, DMD, GLA , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, ACADVL, GAA, ELAC2, EYA4, CPT2, DSP, CRYAB, RAF1, MTO1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, BRAF, DMD , (...)

View the complete list with 75 more genes
Specificity
2 %
Genes
100 %
Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, ACADVL, GAA, ELAC2, EYA4, CPT2, DSP, CRYAB, RAF1, MTO1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, BRAF, DMD , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
100 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, ACADVL, GAA, ELAC2, EYA4, CPT2, DSP, CRYAB, RAF1, MTO1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, DMD, GLA , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, ACADVL, GAA, ELAC2, CPT2, RAF1, MTO1, BRAF, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Phosphorus Hypertrophic Cardiomyopathy Including Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, ACADVL, GAA, ELAC2, CPT2, MTO1, GLA, CAV3, DES, MYH7, FLNC, LDB3, BAG3, FHL1, MYBPC3, TCAP, CACNA1C, LAMP2, ACTC1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Carnitine palmitoyltransferase II deficiency associated myopathy: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

CPT2
Specificity
100 %
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 %
Lethal neonatal carnitine palmitoyl transferase deficiency: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

CPT2
Specificity
100 %
Genes
100 %
Susceptibility to acute-infection induced encephalopathy, type 4: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

CPT2
Specificity
100 %
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 %
Hepatic carnitine palmitoyl transferase deficiency Type II: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

CPT2
Specificity
100 %
Genes
100 %

Alternate names

Carnitine Palmitoyltransferase Ii Deficiency, Infantile Is also known as carnitine palmitoyltransferase ii deficiency with hypoketotic hypoglycemia, carnitine palmitoyltransferase ii deficiency, hepatocardiomuscular, cpt ii deficiency, hepatic, cpt2 deficiency, infantile;cpt2, hepatocardiomuscular form; cpt2, severe infantile form; cptii, hepatocardiomuscular form; cptii, severe infantile form; carnitine palmitoyl transferase ii deficiency, hepatocardiomuscular form; carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form; carnitine palmitoyl transferase deficiency type 2, severe infantile form.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2 NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO; NTD CRANIOSYNOSTOSIS 4; CRS4 CARDIOMYOPATHY, DILATED, 1A; CMD1A BROOKE-SPIEGLER SYNDROME; BRSS

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