Heterotaxy, Situs Inversus and Kartagener's Syndrome Panel
Use
This panel is designed for individuals with relevant features who have a clinical or suspected diagnosis of heterotaxy, situs inversus, or Kartagener's syndrome. It aids in the identification of genetic mutations that may be responsible for the observed phenotypes and can help in confirming a diagnosis, understanding the genetic basis of the condition, and guiding further management and family planning decisions.
Special Instructions
Ensure that the appropriate specimen type is collected based on whether the Exome or Genome platform is being used. For any additional tests or specific requirements, refer to the order form and consult with our support team as needed.
Limitations
This test may not detect all genetic mutations related to the conditions and cannot identify mutations outside of the 48 genes included in the panel. Additionally, some structural variants, non-coding variants, or deep intronic variants may not be detected. Predictive accuracy might be limited in cases with complex genetic or environmental backgrounds influencing the phenotype.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
2-3 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided