BluePrint Panel
Use
The BluePrint Panel allows medical professionals to customize gene panels based on a patient’s specific clinical indications, enabling a more targeted approach for individuals with complex medical histories or symptoms suggestive of genetic conditions. This test is suitable for patients with unclear diagnoses or those starting their diagnostic journey. The tailored genetic analysis promotes timely identification of potential genetic disorders, which can lead to expedited and directed care. By utilizing the online ordering portal, physicians can select genes that best fit the clinical context, utilizing up to 1,000 genes, which enhances the specificity of the analysis for treatment implications.
Special Instructions
Parental samples are requested, if available, to interpret results effectively using targeted Sanger sequencing. The BluePrint Panel is exclusively available for online orders, and no manual orders are accepted, ensuring an orderly and defined process for healthcare providers.
Limitations
The coverage of genes selected in the BluePrint Panel can vary between samples, based on the methodology employed. This test does not offer complete sequencing coverage for every analyzed gene, which may limit the detection of certain genetic variations depending on individual sample characteristics. While the online portal facilitates gene selection, the variability in coverage may impact the comprehensive analysis of gene mutations, requiring careful consideration and potentially further testing for a thorough genetic evaluation. Results may not cover all relevant genes for all patient scenarios, which should be taken into account during interpretation.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood (Fresh)
Volume
3-5 cc
Minimum Volume
3 cc
Container
EDTA tube
Collection Instructions
Draw blood in an EDTA (purple-top) tube(s) and send samples based on patient age.
Storage Instructions
Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. Sample must arrive within 72 hrs.
