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  • 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
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RPL35A

Alias

DBA5; L35A

Associated disorders

The RPL35A gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 382705).

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RPL35A

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Invitae tests that include this gene:

The percentage of Diamond-Blackfan anemia attributed to pathogenic variants identified in RPL35A is roughly 3%.

The RPL35A gene encodes for the 60S ribosomal protein L35a which is located in the cytoplasm. As a ribosomal protein, RPL35A catalyzes protein synthesis and helps regulate cell proliferation.

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
RPL35A NM_000996.2