Rothmund-Thomson syndrome

RECQL4 - Rothmund-Thomson syndrome

This test is available for the following conditions:

• Conditions > Intellectual Disability > Rothmund-Thomson syndrome
• Conditions > Multiple congenital anomalies (MCA) > Rothmund-Thomson syndrome
• Conditions > Oncogenetics > Rothmund-Thomson syndrome

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Craniofacial anomalies panel with genome wide CNV analysis
• Hereditary cancer panel
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Primary immunodeficiencies panel
• Short stature/skeletal dysplasia panel with genome wide CNV analysis
• Skin disorders panel¹

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

Method

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

OMIM: 603780
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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