Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD) Sponsored Testing Program
Use
This test is designed for individuals with clinical symptoms indicative of a peroxisomal disorder, particularly the peroxisomal biogenesis disorder-Zellweger spectrum disorder (PBD-ZSD). It assists in diagnosing individuals either already diagnosed with, or suspected of having, PBD-ZSD. Clinical symptoms influencing suspicion may include neurological, vision, hearing, or hepatic deterioration. The clarification and confirmation of diagnosis through this genetic testing can aid in patient management and family planning.
Special Instructions
Not provided.
Limitations
The test is limited to the 13 specified genes related to PBD-ZSD. While the test includes next-generation sequencing and copy number variant detection, it is not cleared or approved by the US FDA, potentially limiting its accreditation in certain clinical settings. The test's capacity to detect all possible mutations or interpret rare variants may be constrained by the data quality or incomplete clinical information supplied.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 ml - 5 ml
Minimum Volume
1 ml
Container
EDTA (purple top) or ACD (yellow top) tube
Storage Instructions
Store at room temperature or refrigerated. Stable for up to 8 days. If shipping frozen, stable for up to 1 month before shipping on dry ice.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 8 days |
| Refrigerated | 8 days |
| Frozen | 1 month |