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:
- WES comprehensive preconception carrier test ¹
- WES heart disorders¹ (% *)
- WES Mendelian inherited disorders (% *)
- WES metabolic disorders (% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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
CPT1B - Carnitine Palmitoyltransferase deficiency type Ib
This test is available for the following conditions:
- Conditions > Metabolic disorders > Carnitine Palmitoyltransferase deficiency
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
601987
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:
- WES Mendelian inherited disorders (% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- WES comprehensive preconception carrier test ¹
- WES epilepsy (% *)
- WES heart disorders¹ (% *)
- WES Mendelian inherited disorders (% *)
- WES metabolic disorders (% *)
- WES muscle disorders (% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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