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CHRNA1 - multiple pterygium syndrome

This test is available for the following conditions:

Conditions > Multiple congenital anomalies (MCA) > Multiple pterygium syndrome

This product is also part of the following panels:

Comprehensive preconception carrier test panel¹
Fetal akinesia panel
Mendelian inherited disorders panel with genome wide CNV analysis
Muscle 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: 100690
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

GEN

complete analysis

targeted analysis of a familial mutation

€ 393

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- Wijzig taal in Nederlands ( NL )

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- Radboudumc & MaasrichtUMC+

Multiple pterygium syndrome

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Gene

CHRNA1 - multiple pterygium syndrome

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

Performing laboratory
Radboudumc

€ 393

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CHRNA1 - multiple pterygium syndrome

GEN

complete analysis

targeted analysis of a familial mutation

€ 393

Add Update Remove

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