Test Directory

Diagnostic testing.

Specimen Type: Whole Blood

Collection Container: Lavender Top (EDTA)

Desired Specimen Volume: 4 mL

1. Collect 2 lavender top (EDTA) tubes via venipuncture.

1. Transport 4 mL of whole blood in the original collection containers.

Transport to the laboratory refrigerated.

• Hemolysis

See patient report.

This assay will not consistently detect mosaicism or rule out the presence of large chromosomal aberrations, including rearrangements and inversions that do not change copy number of genomic regions. This NGS assay does not detect repeat expansions. False positive or false negative results may occur for reasons that include insufficient information available about rare genetic variants, sex chromosome abnormalities, pseudogene interference, homologous regions, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism/heteroplasmy, mislabeled samples or erroneous representation of family relationships.

For panels with mitochondrial DNA assessment, low levels of heteroplasmy may not be reliably detected. Interpretation of the clinical significance of gene variations is limited by information about the variant that is available at the time of reporting and by the quality and quantity of clinical information provided with the sample. The interpretation of the clinical significance of variants may change.

• Rett Syndrome