• Test code: 04728
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
  • Request a sample kit

Invitae Duane-Radial Ray Syndrome Test

Test description

The Invitae Duane-Radial Ray Syndrome Test analyzes SALL4, a gene that is associated with Duane-Radial Ray syndrome (DRRS), a multisystemic disorder that is characterized by upper-limb, renal, and ocular anomalies. Genetic testing of this gene may confirm a diagnosis and help guide treatment and management. Identification of a disease-causing variant can inform recurrence-risk assessment and genetic counseling.

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Primary panel (1 gene)
  • Duane-Radial Ray syndrome (DRRS)
  • acro-renal-ocular syndrome (AROS)
  • SALL4-related Holt-Oram syndrome (HOS)

Duane-Radial Ray syndrome (DRRS) is a disorder that affects the development of upper limbs and causes ocular and, in some cases, renal anomalies. DRRS is characterized by uni- or bilateral Duane anomaly and radial ray malformations and may include other skeletal abnormalities, such as triphalangeal thumbs or preaxial polydactyly. Some individuals with DRRS have genitourinary abnormalities, sensorineural deafness, and gastrointestinal anomalies. Congenital heart defects have also been reported.

Approximately 90%–95% of individuals who meet diagnostic criteria for a SALL4-related disorder have an identifiable pathogenic variant in SALL4.

Duane-Radial Ray syndrome is inherited in an autosomal dominant pattern. Between 40% and 50% of cases are attributable to de novo pathogenic variants.

SALL4 mutations are 95% penetrant and demonstrate variable expressivity.

The prevalence is unknown.

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 in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
SALL4 NM_020436.3