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BCKDHA - Maple Syrup Urine Disease type Ia
This test is available for the following conditions:
- Conditions > Metabolic disorders > Maple Syrup Urine Disease
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Intellectual disability panel
- Mendelian inherited disorders panel
- Metabolic disorders panel
- Movement 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:
608348
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
BCKDHB - Maple Syrup Urine Disease type Ib
This test is available for the following conditions:
- Conditions > Metabolic disorders > Maple Syrup Urine Disease
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Intellectual disability panel
- Mendelian inherited disorders panel
- Metabolic disorders panel
- Movement 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:
248611
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
DBT - Maple Syrup Urine Disease type II
This test is available for the following conditions:
- Conditions > Metabolic disorders > Maple Syrup Urine Disease
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Intellectual disability panel
- Mendelian inherited disorders panel
- Metabolic disorders panel
- Movement 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:
248610
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
