Special Instructions

Specimen collection for the Plasminogen Genetic Analysis involves standard procedures tailored for each specimen type. For whole blood, standard phlebotomy is required using a lavender-top (EDTA) tube. Oral swabs should be collected using the OCD-100 DNA Genotek kit, following specific kit instructions. For extracted DNA specimens, contact MNG Genetic Services for proper handling procedures. It is important to maintain specimen stability by storing at room temperature or refrigerating at 4°C, and never freezing.

Limitations

This assay may not consistently detect mosaicism or large chromosomal aberrations such as rearrangements and inversions that do not alter copy number. The NGS assay does not identify repeat expansions. Additionally, false positive or negative results could occur due to factors like rare variant information insufficiencies, sex chromosome abnormalities, pseudogene interference, or mislabeled samples. Low levels of heteroplasmy in mitochondrial DNA assessments might not be reliably detected. Clinical significance interpretations are contingent on available variant information and sample-related data quality and quantity, and are subject to change as data evolves.

Biomarkers

LOINC Codes

Result Turnaround Time

Related Documents

Stability Requirements