Gene

SLC2A1 - GLUT1 deficiency syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 394

SLC2A1 - GLUT1 deficiency syndrome



€ 394

SLC2A1 - GLUT1 deficiency syndrome

This test is available for the following conditions:

  • Conditions > Neurological > GLUT1 deficiency syndrome

This product is often ordered in combination with:

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
Remarks
"MLPA analysis will not be performed on a routine basis, because deletions are very rare. MLPA can be requested as separate test ."

OMIM: 138140
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 394
MLPA

SLC2A1 - GLUT1 deficiency syndrome type 2 / dystonia type 18 (MLPA)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 400

SLC2A1 - GLUT1 deficiency syndrome type 2 / dystonia type 18 (MLPA)



€ 400

SLC2A1 - GLUT1 deficiency syndrome type 2 / dystonia type 18 (MLPA)

This test is available for the following conditions:

  • Conditions > Neurological > GLUT1 deficiency syndrome

This product is often ordered in combination with:

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

  • Deletion/duplication analysis (MLPA)

OMIM: 138140
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 400