Invitae RECQL4-Related Disorders Test


Test description

This test analyzes the RECQL4, a gene that is associated with three distinct conditions: Rothmund-Thomson syndrome (RTS), Baller-Gerold syndrome (BGS), and RAPADILINO syndrome. These syndromes are each characterized by a specific presentation, but they have overlapping features, including radial ray defects, skeletal abnormalities, slow growth/short stature, and an increased risk for malignancy.

Genetic testing of this gene may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant would also guide testing and diagnosis of at-risk relatives. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.

Order test

Primary panel (1 gene)


  • Baller-Gerold syndrome (BGS)
  • Rothmund-Thomson syndrome (RTS)
  • RAPADILINO syndrome

RECQL4-related conditions are diagnosed early in life and are characterized by radial ray defects, skeletal abnormalities, and slow growth and short stature. Three distinct syndromes are associated with RECQL4, including:

Rothmund-Thomson syndrome (RTS)
Characterized by poikiloderma (sparse hair, eyelashes, or eyebrows), small stature, skeletal and dental abnormalities, cataracts, and an increased risk for osteosarcoma
Baller-Gerold syndrome (BGS)
Characterized by coronal craniosynostosis with ocular proptosis and bulging forehead, radial ray defects, aplasia or hypoplasia of the radius, growth restriction, and poikiloderma
An acronym for radial ray defect; patellae hypoplasia or aplasia and cleft or highly arched palate; diarrhea and dislocated joints; limb malformation; nose slender and normal intelligence; characterized by pre- and postnatal growth restriction

  • RTS – The prevalence of osteosarcoma was 30% in affected individuals, with a median age at diagnosis at 11 years. There is also an increased risk of basal cell carcinoma and squamous cell carcinoma.
  • BGS – An increased risk for osteosarcoma, lymphoma, and skin cancer was reported.
  • RAPADILINO syndrome – An increased risk for osteosarcoma during childhood or adolescence and for lymphoma in young adulthood.

All RECQL4-related conditions reported to date have an autosomal recessive inheritance pattern.

The prevalence of RECQL4-related conditions is currently unknown.

Analysis of the RECQL4 gene may be considered in individuals with the following (major findings):

  • poikiloderma in infancy
  • coronal craniosynostosis
  • radial ray defects/short stature
  • positive family history of RECQL4-related disorders

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
RECQL4 NM_004260.3