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Known Familial Variant, Targeted Variant Sequencing

CPT Code(s): 81403

Ordering Recommendation: Targeted sequencing is recommended for individuals with clinical symptoms of known familial genetic disorder, and 1) where either the familial variant is known, or 2) the variant has been identified by a research protocol and needs to be confirmed in a clinical laboratory.

Synonyms: Sanger sequencing, 1 exon, known familial variant, DNA sequencing, targeted sequencing

Methodology: Sanger sequence analysis

Performed: Monday through Friday

Reported: 14 days

Specimen Requirements

Collect: Preferred: whole blood in lavender top (EDTA) tubes, cultured and uncultured cells

Specimen Volume: Blood: 3 mL whole blood (minimum 1 mL)

Storage/Transport: Refrigerated/Room temperature

Unacceptable Conditions: Grossly hemolyzed or clotted

Stability: One month refrigerated; One month frozen