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 with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • 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




€ 725

Gene

BCKDHA - Maple Syrup Urine Disease type Ia

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

BCKDHA - Maple Syrup Urine Disease type Ia



€ 725
Gene

BCKDHB - Maple Syrup Urine Disease type Ib

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

BCKDHB - Maple Syrup Urine Disease type Ib



€ 725

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 with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • 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




€ 725
Gene

DBT - Maple Syrup Urine Disease type II

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

DBT - Maple Syrup Urine Disease type II



€ 725

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 with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • 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




€ 725