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MYBPC1 - lethal congenital contracture syndrome 4

This test is available for the following conditions:

Conditions > Neuromuscular > Lethal congenital contracture syndrome
Conditions > Skeletal > Lethal congenital contracture syndrome

This product is also part of the following panels:

Comprehensive preconception carrier test panel¹
Fetal akinesia panel
Mendelian inherited disorders panel
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: 160794
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

GEN

complete analysis

targeted analysis of a familial mutation

€ 558

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Lethal congenital contracture syndrome

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Gene

MYBPC1 - lethal congenital contracture syndrome 4

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

Performing laboratory
Radboudumc

€ 558

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MYBPC1 - lethal congenital contracture syndrome 4

GEN

complete analysis

targeted analysis of a familial mutation

€ 558

Add Update Remove

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