Peroxisomal Disorder Panel, Sequencing
Also known as: PBD NGS
Use
The Peroxisomal Disorder Panel, Sequencing is used to confirm a diagnosis of Zellweger spectrum disorder, rhizomelic chondrodysplasia punctata, and other heritable forms of peroxisomal dysfunction in symptomatic individuals. Peroxisomal disorders are a group of diseases caused by gene defects impairing the formation or function of the peroxisomes, affecting a wide range of body systems. Common clinical features include hypotonia, seizures, poor growth, and developmental delay.
Special Instructions
Not provided.
Limitations
A negative result does not exclude a diagnosis of peroxisomal disorders. This test detects variants within coding regions and intron-exon boundaries of targeted genes. Variants in regulatory regions, deep intronic variants, or larger deletions/duplications may not be detected. Technical limitations may prevent detection of some variants due to pseudogenes or homologous regions.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1.5 mL
Container
Lavender (EDTA) or yellow (ACD solution A or B)
Storage Instructions
Refrigerated
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens; saliva; buccal brush or swab; FFPE tissue
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 2 weeks |
| Frozen | Unacceptable |
Other tests from different labs that may be relevant