Results are reported in 10-21 days.
Primary ciliary dyskinesia (PCD) is a disorder of structure and function of cilia that can cause respiratory disease with sinusitis and bronchiectasis; random left-right orientation of internal organs resulting in heterotaxy or situs inversus totalis; chronic otitis media; male infertility; and other symptoms related to defective cilia action in embryonic and postnatal life. PCD is also called Immotile Cilia Syndrome and when present with situs inversus is called Kartagener Syndrome. Approximately 1 in 16,000 individuals are affected, and most cases are autosomal recessive.
Genetic heterogeneity (the involvement of multiple genetic causes) is seen in PCD and reflects the complexity of cilia structure and biogenesis. Two genes implicated in autosomal recessive PCD are DNAI1 and DNAH5, which encode components of the outer dynein arm complex. Mutations in DNAI1 or DNAH5 have been detected in 38% of PCD patients overall. The Ambry Panel: PCD 61 detects all of the known disease-causing mutations in these two genes published through September 2007.
The Ambry Panel: PCD 61 can be done on a simple blood or saliva specimen collected from a patient of any age. Specimens are readily transported in your own or Ambry Genetics’ pre-paid packaging. The Ambry Panel has high specificity for PCD diagnosis. Positive results allow patient and family counseling, and may complement or allow bypass of more invasive diagnostic procedures.
DNA testing is appropriate for the following indications:
- known or suspected primary ciliary dyskinesia
- chronic sinusitis or bronchiectasis not due to cystic fibrosis
- suspected PCD with heterotaxy, situs ambiguus, or situs inversus (Kartagener Syndrome)
- congenital heart defect associated with recurrent respiratory disease or heterotaxy
- chronic otitis media with effusion
- male infertility with other signs of PCD
- idiopathic respiratory distress in full-term neonates
- carrier status determination for relatives of patients with known mutations.
The Ambry Panel: PCD 61 analyzes for the 61 published mutations in DNAH5 and DNAH1 causing PCD. Results are reported 10-21 days after testing is initiated. Carrier testing for specific familial mutations is also available.
As the two genes tested code for cilia outer dynein arm proteins, patients known to have central complex or inner dynein arm defects are unlikely to have mutations detected by this test. For other patients, a negative result reduces the likelihood but does not exclude the diagnosis of PCD as future research may suggest other genes appropriate for testing. Patients with a negative result and a known or strongly suspected diagnosis are encouraged to follow genetics developments and consider involvement in research. Referrals to clinical studies are available from Ambry Genetics.
Ambry Panel: PCD 61
(Abobe PDF document)
General Test Information
The Ambry Panel: PCD 61
(Abobe PDF document)
The following CPT Codes for The Ambry Test reflects Ambry Genetics’ interpretation of CPT coding requirements based on AMA guidelines:
Ambry Panel: PCD 61
83891, 83894, 83898, 83904, 83909, 83912
CPT codes are provided only as a guide to assist you in billing. CPT coding is the sole responsibility of the billing party.
Disclaimer:
This test was developed and its performance characteristics were determined by Ambry Genetics Corporation. The laboratory is regulated under the Clinical Laboratory Improvement Amendments 2003 as qualified to perform non-waived testing. The Ambry Panel: PCD 61 analyzes the specific mutations listed above. It is not intended to analyze other mutations. A negative result from the analysis cannot rule out the possibility that the tested individual carries an unexamined mutation. The Ambry Panel: PCD 61 is designed and validated to be capable of detecting >99% of the previously described 43 mutations on DNAH5 and 18 mutations on DNAI1. Primary ciliary dyskinesia is a complex clinical disorder, which in some cases is due to alterations in the DNAH5 and DNAI1 genes detected by the The Ambry Panel: PCD 61 except as noted above. Mutations in other genes or the regions not tested by the Ambry Panel: PCD 61 also give rise to clinical conditions similar or identical to PCD. Although molecular tests are highly accurate, rare diagnostic errors may occur. Possible diagnostic errors include sample mix-up, erroneous paternity identification, technical errors, and genotyping errors. Genotyping errors can result from trace contamination of PCR reactions, from maternal cell contamination in fetal samples, from rare genetic variants, which interfere with analysis, or from other sources. This report does not represent medical advice. Any questions, suggestions, or concerns regarding interpretation of results should be forwarded to a genetic counselor, medical geneticist, or physician skilled in interpretation of the relevant medical literature. References are available upon request.
