We perform single gene analysis and targeted variant analysis on any gene available on any of our indication-specific gene panels for both postnatal (constitutional) or hereditary cancer diagnoses.
Review A-Z genes and contact our laboratory for specifics.
Indications for single gene testing
- High clinical suspicion for a specific gene to be causative for a patient’s clinical presentation
- Previous negative genetic testing did not include analysis of a specific gene of interest
Note, if genetic testing in a patient’s relative revealed a genetic change, the recommended test for family members is “targeted variant analysis”, and not “single gene testing”. Please contact us for more information.
Benefits of the single gene testing approach
- Single gene testing may be cost-effective and minimize the need for testing unnecessary genes that are not of interest.
- Single gene testing may reduce the chance of learning about health risks that are unrelated to the current clinical concern.
Single gene testing test details
- Each single gene test is performed according to industry standards by methodologies including full sequencing analysis using a customized next generation sequencing library and high resolution (exon-specific) deletion/duplication analysis using a customized oligonucleotide array.
Genetic counseling services
In the increasingly complex field of genetic diagnostic testing, genetic counselors serve as a vital link between the laboratory and the clinician. As part of our comprehensive services, the Human Genetics Laboratory team includes licensed and board-certified genetic counselors to assist providers and their patients. Our genetic counselors have current clinical experience as well as dedicated areas of expertise, ranging from prenatal and postnatal genetics to oncology.