Intellectual disability, X-linked

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

Remarks
DNA of the proband is required

Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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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

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