CPT2

OMIMHGNC

Synonym(s): CPTASE, CPT1

Locus: 1p32.3

Protein: Carnitine O-palmitoyltransferase 2

 

Disorders

Filter By:

Test Type
Molecular
Panel
Test Method
Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.)
Mutation Scanning of Entire Coding Region
Sequencing, Capillary (Sanger)
Genotyping (Microarray, Beads, etc.)
Sequencing, Next Gen
Prenatal/Carrier
Prenatal
Carrier
Lab Location
Germany
Korea, Republic of
Poland
Spain
United Kingdom
USA

Tests

Test
TAT: 8-10 weeks
price: contact lab
Cardiomyopathy (General) Multi-Gene Panel
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Carnitine Palmitoyl Transferase Deficiency Type 2 (Myopathic Form), Mutation (p.Ser113Leu) CPT2 Gene
method(s): ◦ Mutation Scanning of Entire Coding Region 
Reference Laboratory Genetics - Barcelona, Spain
Carnitine Palmitoyl Transferase Deficiency Type 2 (Myopathic Form), Sequencing CPT2 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Barcelona, Spain
TAT: 7-10 days
price: contact lab
Carnitine Palmitoyltransferase II Deficiency
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Recombine - Livingston, NJ, USA
Carnitine Palmitoyltransferase II Deficiency, Full Gene Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
Carnitine Palmitoyltransferase II Deficiency, Known Mutation
method(s): ◦ Sequencing, Capillary (Sanger) 
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
TAT: 4-5 weeks
price: contact lab
Carnitine Palmitoyltransferase II Deficiency: CPT2 Gene Deletion/Duplication
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-5 weeks
price: contact lab
Carnitine Palmitoyltransferase II Deficiency: CPT2 Gene Sequencing
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 16-20 weeks
price: contact lab
Comprehensive Epilepsy Evaluation NGS Panel
method(s): ◦ Sequencing, Next Gen 
Transgenomic - New Haven - New Haven, CT, USA
CPT2 deficiency test
method(s): ◦ Sequencing, Capillary (Sanger) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
TAT: 3-4 weeks
price: contact lab
CPT2 Del/Dup
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
GeneDx - Gaithersburg, MD, USA
TAT: 4-5 weeks
price: contact lab
CPT2 deletion/duplication analysis
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 4-5 weeks
price: contact lab
CPT2 Deletion/Duplication Analysis
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
CPT2 Familial Mutation/Variant Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 4 weeks
price: contact lab
CPT2 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 4-5 weeks
price: contact lab
CPT2 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
CPT2 Prenatal Sequence Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 4-5 weeks
price: contact lab
CPT2 Sequence Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 2-4 weeks
price: contact lab
CPT2 Sequence Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Transgenomic - New Haven - New Haven, CT, USA
TAT: 4-5 weeks
price: contact lab
CPT2 Sequence and Deletion/Duplication Analysis
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 3-5 weeks
price: contact lab
devSEEK Clinical Management Panel, Developmental Delay, Intellectual Disability, Autism Spectrum Disorders
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 4-6 weeks
price: contact lab
Epilepsy NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
Epilepsy Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
TAT: 3-5 weeks
price: contact lab
epiSEEK® Comprehensive Sequence Analysis for Epilepsy and Seizure Disorders
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 4-6 weeks
price: contact lab
Fatty Acid Oxidation NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 9-10 weeks
price: contact lab
Fatty Acid Oxidation Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
TAT: 8-10 weeks
price: contact lab
Fetal Akinesia / Arthrogryposis (AMC) - Multi-gene Panel
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 9-10 weeks
price: contact lab
Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
Inherited Disease Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Kidney Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
TAT: 4-5 weeks
price: contact lab
MetaboSeq Fatty Acid Oxidation Disorders Deletion/Duplication Panel
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 12-13 weeks
price: contact lab
MetaboSeq Fatty Acid Oxidation Disorders Panel
method(s): ◦ Sequencing, Next Gen 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 10-12 weeks
price: contact lab
Mitochondrial Disorders (108 Nuclear Genes) Sequencing
method(s): ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 10-12 weeks
price: contact lab
Mitochondrial Disorders (108 Nuclear Genes) Sequencing and Deletion/Duplication
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 8-10 weeks
price: contact lab
Mitochondrial Disorders Multi-Gene Panel (Nuclear Genes)
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 10-12 weeks
price: contact lab
Mitochondrial Disorders Panel (mtDNA and 108 Nuclear Genes) Sequencing and Deletion/Duplication
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 3-4 weeks
price: contact lab
Mitochondrial Genome (mtDNA and 108 Nuclear Genes) Deletion/Duplication
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 4-6 weeks
price: contact lab
Myopathy-Rhabdomyolysis NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 8-10 weeks
price: contact lab
Myopathy/Muscular Dystrophy - entire panel
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Neuromuscular Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
TAT: 4-6 weeks
price: contact lab
Nuclear-Mito 500 NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 11-12 weeks
price: contact lab
NuclearMitome
method(s): ◦ Sequencing, Next Gen 
Transgenomic - New Haven - New Haven, CT, USA
TAT: 3-5 weeks
price: contact lab
nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 6-8 weeks
price: contact lab
Paediatric Cardiomyopathy NGS Panel
method(s): ◦ Sequencing, Next Gen 
Bristol Genetics Laboratory, Southmead Hospital, North Bristol NHS Trust - Bristol, United Kingdom
TAT: 3-4 weeks
price: contact lab
Reflex Del/Dup Testing After Fatty Acid Oxidation Disorders Panel
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
GeneDx - Gaithersburg, MD, USA
TAT: 3-4 weeks
price: contact lab
Reflex Del/Dup Testing after Hyperammonemia Panel
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
GeneDx - Gaithersburg, MD, USA