X-inactivation
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, X-linked
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- PCR followed by fragment (length) analysis
- Methylation analysis
DNA of the proband is required
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
PQBP1 - X-linked intellectual disability type Renpenning (MLPA)
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, X-linked
This product is also part of the following panels:
- Epilepsy panel
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Orofacial clefting panel with genome wide CNV analysis
- Skin disorders panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Deletion/duplication analysis (MLPA)
OMIM:
300463
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane