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RPS6KA3 - Coffin Lowry syndrome

This test is available for the following conditions:

Conditions > Intellectual Disability > Coffin-Lowry syndrome
Conditions > Multiple congenital anomalies (MCA) > Coffin-Lowry syndrome

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

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

Sequence analysis of all coding exons and flanking intron-exon boundaries
Deletion/duplication analysis (MLPA)

OMIM: 303600
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

GEN

complete analysis

targeted analysis of a familial mutation

€ 671

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Coffin-Lowry syndrome

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Gene

RPS6KA3 - Coffin Lowry syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Performing laboratory
Radboudumc

€ 671

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RPS6KA3 - Coffin Lowry syndrome

GEN

complete analysis

targeted analysis of a familial mutation

€ 671

Add Update Remove

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