Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD) Sponsored Testing Program

Casandra

Casandra Test Code PG90219Version 1 (DRAFT)

Performing Lab

Lab Prevention GeneticsLab Test ID 12655

Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD) Sponsored Testing Program

Clinical Use

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

Whole blood should be collected in EDTA (purple top) or ACD (yellow top) tubes, with a preferred volume of 3 ml to 5 ml, and a minimum of 1 ml required for small infants. Specimen collection is accompanied by a special requisition form that must be completed and accompany the sample. A telehealth genetic counseling service is available at no cost to discuss the implications of genetic findings and assist in genetic education and support.

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.

Test Details