Myhre syndrome

SMAD4 - Myhre syndrome

This test is available for the following conditions:

• Conditions > Intellectual Disability > Myhre syndrome

This product is also part of the following panels:

• Hemostatic/thrombotic disorders panel
• Hereditary cancer panel
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Orofacial clefting panel with genome wide CNV analysis
• panel polyposis (APC, MUTYH, SMAD4, BMPR1A, POLE, POLD1, NTHL1, STK11, PTEN)
• Short stature/skeletal dysplasia panel with genome wide CNV analysis

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

Method

• Sequence analysis of selected exons and flanking intron-exon boundaries

OMIM: 600993
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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