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
This test requires the submission of the Peroxisomal Disorders Patient History Form and informed consent for genetic testing, which is required for New York patients. Specimens from New York clients will be sent to a New York state-approved laboratory.
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 |