GLUT1 deficiency syndrome

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:

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

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Epilepsy panel
• 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

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

---

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:

• SLC2A1 - GLUT1 deficiency syndrome

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Epilepsy panel
• 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

• Deletion/duplication analysis (MLPA)

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

---