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:
- Epilepsy panel
- Intellectual disability / developmental delay panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
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
