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NFIX - Marshall-Smith syndrome

This test is available for the following conditions:

Conditions > Multiple congenital anomalies (MCA) > Marshall-Smith syndrome

This product is also part of the following panels:

Intellectual disability panel
Mendelian inherited disorders panel
Short stature/skeletal dysplasia panel
Tall stature panel

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: 164005
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

GEN

complete analysis

targeted analysis of a familial mutation

€ 394

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Marshall-Smith syndrome

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Gene

NFIX - Marshall-Smith syndrome

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

Performing laboratory
Radboudumc

€ 394

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NFIX - Marshall-Smith syndrome

GEN

complete analysis

targeted analysis of a familial mutation

€ 394

Add Update Remove

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