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KMT2A - Wiedemann-Steiner syndrome

This test is available for the following conditions:

Conditions > Multiple congenital anomalies (MCA) > Wiedemann-Steiner syndrome
Conditions > Skeletal > Wiedemann-Steiner syndrome

This product is also part of the following panels:

Congenital heartdisease panel¹
Heart disorders panel¹
Intellectual disability panel
Mendelian inherited disorders panel
Metabolic disorders panel
Primary immunodeficiencies panel
Short stature/skeletal dysplasia panel

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

Method

Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 159555
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

GEN

complete analysis

targeted analysis of a familial mutation

€ 715

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Wiedemann-Steiner syndrome

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Gene

KMT2A - Wiedemann-Steiner syndrome

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

Performing laboratory
Radboudumc

€ 715

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KMT2A - Wiedemann-Steiner syndrome

GEN

complete analysis

targeted analysis of a familial mutation

€ 715

Add Update Remove

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