• 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




Associated disorders

The IDS gene is associated with X-linked recessive mucopolysaccharidosis type II (MPS II, also known as Hunter syndrome) (MedGen UID: 7734).

Pathogenic variants in the IDS gene are the only known cause of mucopolysaccharidosis type II (PMID: 25345092). Among individuals with a confirmed clinical diagnosis of MPS II, 82% have sequence variants and 9% have exonic deletions/duplications, which are both detected in this assay. Another 9% of individuals have complex structural rearrangements that are not identified in this assay (PMID: 20301451).

The IDS gene encodes the lysosomal enzyme iduronate 2-sulfatase (I2S) enzyme, which functions to break down glycosaminoglycans (GAGs), specifically heparan and dermatan sulfate. Disruption of I2S function causes a toxic accumulation of GAGs in the lysosome, leading to nervous, cardiovascular, respiratory, and musculoskeletal system dysfunction (PMID: 25345092).

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.

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
IDS* NM_000202.6

*IDS: Detection of complex rearrangements not offered (PMID: 7633410, 20301451).