Ordering
  • 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
Billing
 

RPGRIP1L

Alias

CORS3; FTM; JBTS7; MKS5; NPHP8; PPP1R134

Associated disorders

The RPGRIP1L gene is associated with autosomal recessive ciliopathies including Joubert syndrome (MedGen UID: 369401), Meckel syndrome (MedGen UID: 409740), and COACH syndrome (MedGen UID: 387879).

Order single gene

RPGRIP1L

Order this gene as a single gene test.


Order a test

Invitae tests that include this gene:

Primary cilia sense the extracellular environment and transmit signals into the cell for proper organ development and embryonic patterning. These cilia consist of a basal body, transition zone, and axoneme composed of nine peripheral microtubule doublets. Disruption of cilia function can lead to a variety of diseases associated with brain, kidney, lung, eye, digital and/or facial anomalies. The RPGRIP1L gene encodes a protein that is essential for the viability of rod photoreceptors and is also found in the epithelial lining of bronchial and sinus tissues. This protein may be involved in microtubule organization or regulation of transport in primary cilia.

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
RPGRIP1L NM_015272.2