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:

• WES comprehensive preconception carrier test ¹
• WES craniofacial anomalies (100.0% *)
• WES hereditary cancer (100.0% *)
• WES hereditary cancer (100.0% *)
• WES intellectual disability (100.0% *)
• WES intellectual disability (100.0% *)
• WES Mendelian inherited disorders (100.0% *)
• WES primary immunodeficiencies (100.0% *)
• WES short stature/skeletal dysplasia (100.0% *)
• WES skin disorders¹ (100.0% *)

* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

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

---