Targeted Variant Testing
HNL Genomics performs targeted variant analysis for any gene on our test menu. Targeted variant analysis is available for all standard specimen types, including prenatal specimens, regardless of if the targeted variant was originally identified by our laboratory or by an outside laboratory.
Targeted Variant Testing Details
If the variant was identified at our laboratory, please include:
- Targeted Variant Test Requisition Form
- HNL Genomics identification number or the name and date of birth of the patient in whom the variant was previously identified
If the variant was identified by an outside laboratory, please include:
- Test Requisition Form With Targeted Variant Testing
- The report issued by the laboratory that previously identified the variant
- If the report is not available, please include the nucleotide change and amino acid change for the variant and, if possible, the cDNA reference sequence number used by the outside laboratory
Standard billing requirements apply to targeted variant tests.
Variant of Uncertain Significance (VUS) Resolution
We are committed to working with healthcare providers and patients to provide follow up genetic testing for patients that are found to have variants of uncertain significance (VUS). VUS Resolution testing takes approximately 1-2 weeks from the time the sample and all required information are received.
VUS Testing Details
When variants of uncertain significance are identified by HNL Genomics sequencing tests, testing additional family members will be offered at no cost if there is a high likelihood that testing will provide evidence to assist in variant reclassification. In these cases, the patient's report will clearly state that testing at no cost for two family members is being offered.
Some family members are more informative than others for variant resolution; therefore, recommendations for which family members to test are listed below.
- For autosomal dominant disorders with no family history of the disorder, testing of both parents is recommended.
- For autosomal dominant disorders with a family history of the disorder, testing of two affected family members (preferably an affected parent and one other affected family member) is recommended.
- For autosomal recessive disorders where two variants of uncertain significance or one VUS and one pathogenic/likely pathogenic variant are identified, testing of both parents is recommended.
If the recommended individuals are not available for testing, other family members will be tested. For guidance on selection of the most informative family members, contact us.
Testing at no cost will only be performed if the relationship to the original patient is clearly stated and the clinical history indicating if the family members are affected or unaffected is provided. Additionally, testing at no cost will only be performed if the family member’s samples are received within six months of the date the original patient’s report was issued.
Please note that follow up testing may not result in an immediate reclassification of the VUS.
In cases where testing of additional family members will likely not assist in variant reclassification, testing at no cost will not be offered. For these cases, family members can still be tested but they will be charged the regular rate for a targeted variant test, $200 per variant.
Complete the Targeted Variant Test Requisition Form and send the completed form with the specimen to HNL Genomics.
- Include the HNL Genomics case number or the name and date of birth (DOB) of the original patient tested at HNL Genomics
- Include clinical history clearly indicating if the family members being tested are affected or unaffected
- Note the relationship of the family member being tested to the original patient
If this information is not provided, testing of the family members will be placed on hold until the information is received.
Testing takes approximately 1-2 weeks from the time the sample and all required information are received.