Hereditary Paraganglioma/Pheochromocytoma Panel, Varies
Use
This panel is useful for evaluating patients with a personal or family history suggestive of hereditary paraganglioma and pheochromocytoma syndrome. It helps in establishing a diagnosis, allowing for targeted surveillance, and identifying genetic variants associated with increased risk, thus enabling predictive testing and appropriate screening of at-risk family members.
Special Instructions
Not provided.
Limitations
The test may not detect all types of genomic variants. False-negative or false-positive results can occur. Technical limitations may prevent effective evaluation of some gene regions due to homology, GC content, and repetitive sequences. Single exon resolution might not be achieved due to reduced coverage or genomic complexity. Not designed for detecting low levels of mosaicism or differentiating somatic and germline variants.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 62364-5 - Test performance info Spec
- 31208-2 - Specimen source
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 99622-3 - Patient resource info
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
- 48018-6 - Gene studied ID
- 18771-6 - Provider signing name
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Patient Preparation
A previous hematopoietic stem cell transplant from an allogenic donor will interfere with testing.
Storage Instructions
Ambient (preferred) 4 days/Refrigerated 4 days/Frozen 4 days
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |