Total BluePrint Panel
Use
The Total BluePrint Panel is designed to identify genetic causes of diseases by analyzing approximately 4,800 known Mendelian disease-causing genes. This test focuses specifically on exonic regions that are essential for the production of vital proteins. Given that the majority of pathogenic errors occur in these regions, the Total BluePrint Panel stands apart from other tests by thoroughly evaluating all relevant exons, thereby minimizing the risk of missing critical mutations that could lead to genetic disorders. It is especially useful for patients with complex medical histories or unresolved diagnostic challenges, aiming to expedite the diagnostic journey.
Special Instructions
Parental samples are requested, if available, to interpret the proband's results through targeted Sanger sequencing. Detailed instructions for sample collection can be found in the requisition form.
Limitations
Although the Total BluePrint Panel covers a broad range of genes, the complete sequencing coverage may not be guaranteed for every gene analyzed. Variability in coverage can occur due to the inherent limitations of sequencing technologies and individual sample characteristics. Moreover, while the panel includes 4,800 genes, it does not allow for gene customization, potentially resulting in missed abnormalities in non-targeted genes. Results should be interpreted by qualified professionals and combined with clinical information for comprehensive assessment.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood (Unknown)
Volume
3-5 cc
Minimum Volume
3 cc
Container
EDTA (purple-top) tube
Collection Instructions
Draw blood in an EDTA (purple-top) tube(s).
Storage Instructions
Ship at room temperature.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hrs |
Other tests from different labs that may be relevant