NL
CPT1A - Carnitine Palmitoyltransferase deficiency type Ia
This test is available for the following conditions:
- Conditions > Metabolic disorders > Carnitine Palmitoyltransferase deficiency
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Heart disorders panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
600528
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CPT1C - Carnitine Palmitoyltransferase deficiency type Ic
This test is available for the following conditions:
- Conditions > Metabolic disorders > Carnitine Palmitoyltransferase deficiency
This product is also part of the following panels:
- Mendelian inherited disorders panel with genome wide CNV analysis
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
608846
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CPT2 - Carnitine Palmitoyltransferase deficiency type II
This test is available for the following conditions:
- Conditions > Metabolic disorders > Carnitine Palmitoyltransferase deficiency
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Epilepsy panel
- Heart disorders panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
- Muscle disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
600650
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
