Angelman syndrome

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

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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 panel
• Mendelian inherited disorders panel

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

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