NL
Angelman syndrome (methylation)¹
This test is available for the following conditions:
- Conditions > Intellectual Disability > Angelman syndrome
- Conditions > Multiple congenital anomalies (MCA) > Angelman syndrome
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Deletion/duplication analysis (MLPA)
- Methylation analysis
OMIM:
105830
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
UBE3A - Angelman syndrome¹
This test is available for the following conditions:
- Conditions > Intellectual Disability > Angelman syndrome
- Conditions > Multiple congenital anomalies (MCA) > Angelman syndrome
This product is also part of the following panels:
- WES epilepsy (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
* % 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:
105830
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
