• 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



17-7A; 71-7A; CX0rf5; CXorf5; JBTS10; RP23; SGBS2

Associated disorders

The OFD1 gene is associated with X-linked dominant Oral-facial-digital syndrome, type 1 (MedGen UID: 307142) and X-linked recessive OFD1-related Joubert syndrome (MedGen UID: 300804). Additionally, OFD1 has been reported in association with primary ciliary dyskinesia (PMID: 16783569).

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Invitae tests that include this gene:

Motile cilia protect the lungs, sinuses, and ear canals from recurrent infections by clearing mucus, dirt, and bacteria out of the respiratory tract. Primary cilia sense the extracellular environment and transmit signals into the cell for proper organ development and embryonic patterning. Disruption of cilia function can lead to a variety of diseases associated with brain, kidney, lung, eye, digital, and/or facial anomalies. The OFD1 gene encodes a protein that regulates the biogenesis of motile and primary cilia, and mutations in this gene lead to dysfunctional cilia without any clearly defined structural defects.

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
OFD1 NM_003611.2