Only qualified healthcare providers may order

Targeted Variant Testing (Sanger Sequencing)

Used in the Human Genome Project, Sanger sequencing has long been the gold standard for targeted sequencing of genes or variants of interest. The test targets small regions (~400 base pairs) within the human genome to look for changes in the DNA. The HudsonAlpha Clinical Services Lab’s Targeted Variant Testing is ideal for individuals desiring testing for familial variants or those wishing to confirm research results.


  • Targeted Variant Testing by Sanger sequencing includes custom primer design and sequencing for a variant or region of interest. Detected variants are reported with variant interpretation. 
  • Sample Report

Turnaround Time (TAT)

  • Turnaround time from sample receipt to final report is 28 days.
  • STAT turnaround time may be available. Contact the lab for details.


Let’s Chat

Feel free to call us at 256-327-9670 to discuss pricing or reach out via our contact form for more information.

Specimen Requirements

  • Blood: 2-4 mL of whole blood collected in 1 EDTA (lavender top) tube per individual. For infants, a minimum of 1 mL is required.
  • Saliva: Saliva collected in an FDA-approved Oragene OGD-600 or OGD-675 kit following the manufacturer’s instructions provided with the kit.
  • Extracted DNA: minimum 500 ng at ≥5 ng/μL purified DNA extracted in a CLIA laboratory. Purified DNA must be submitted in a screw cap tube. Qiagen kits and resuspension in elution buffer recommended.

Test Specifications

  • DNA is checked for quality and concentration. PCR primers are designed for regions of interest and used to amplify the DNA target. PCR products are checked by agarose gel to confirm expected size. Using the BigDye Direct Sequencing Kit, sequencing of the requested region of interest is generated on an Applied Biosystem 3730 Genetic Analyzer. Sequence generated is analyzed through Mutation Surveyor to confirm the presence and zygosity of the variant as well as provide the HGVS nomenclature. Variant classification is performed according to ACMG/AMP guidelines.
  • Sanger sequence analysis only at the genomic loci stated in a patient’s report; other regions of the gene and genome are not analyzed. This test is designed to evaluate single nucleotide variants and small insertions or deletions within the human genome. This test is limited in its ability to detect mosaicism and chimerism; this test may not detect variants with less than 20% variant allele proportion. This technology is limited in its ability to accurately identify variants occurring in regions with high sequence identity to other regions of the genome (e.g. paralogous genes and pseudogenes). False positive, negative or misleading results may occur for reasons that include genetic variants, blood transfusions, bone marrow transplantation, erroneous representation of family relationship, or contamination of a specimen. The chance of a false negative or a false positive result due to laboratory error cannot be completely excluded

This test(s) was developed, and performance characteristics were determined by the HudsonAlpha Clinical Services Lab, LLC. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. These tests are used for clinical purposes, and therefore validation was done as required under the requirements of the Clinical Laboratory Improvement Act (CLIA) of 1988. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. The chance of a false negative or a false-positive result due to laboratory error cannot be completely excluded. These results should not be regarded as investigational or for research.