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:
- WES comprehensive preconception carrier test ¹
- WES epilepsy (% *)
- WES intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES metabolic disorders (% *)
- WES movement disorders (% *)
* % 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