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




€ 725

Products Conditions Metabolic disorders Carnitine Palmitoyltransferase deficiency
Gene

CPT1A - Carnitine Palmitoyltransferase deficiency type Ia

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

CPT1A - Carnitine Palmitoyltransferase deficiency type Ia



€ 725

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:

** % 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




€ 725
Gene

CPT1B - Carnitine Palmitoyltransferase deficiency type Ib

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

CPT1B - Carnitine Palmitoyltransferase deficiency type Ib



€ 725
Gene

CPT1C - Carnitine Palmitoyltransferase deficiency type Ic

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

CPT1C - Carnitine Palmitoyltransferase deficiency type Ic



€ 725

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:

** % 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




€ 725
Gene

CPT2 - Carnitine Palmitoyltransferase deficiency type II

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

CPT2 - Carnitine Palmitoyltransferase deficiency type II



€ 725

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:

** % 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




€ 725