Carnitine Palmitoyltransferase deficiency

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

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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

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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

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