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

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:

  • WES intellectual disability (99.8% **)
  • WES Mendelian inherited disorders (99.8% **)
  • WES metabolic disorders (99.8% **)
  • WES movement disorders (99.8% **)

** % 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: 608348
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 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:

  • WES intellectual disability (92.8% **)
  • WES Mendelian inherited disorders (92.8% **)
  • WES metabolic disorders (92.8% **)
  • WES movement disorders (92.8% **)

** % 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: 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:

  • WES intellectual disability (96.9% **)
  • WES Mendelian inherited disorders (96.9% **)
  • WES metabolic disorders (96.9% **)
  • WES movement disorders (96.9% **)

** % 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: 248610
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725