Peroxisomal Disorders Panel by Massively Parallel Sequencing

Clinical Use

Use

The Peroxisomal Disorders Panel assesses 22 genes critical for peroxisome assembly, biogenesis, and function. These genes are associated with peroxisomal biogenesis disorders, such as Zellweger spectrum disorders (ZSDs), and single peroxisomal enzyme deficiencies. ZSDs manifest a range of symptoms due to the accumulation of toxic substances and impaired lipid synthesis, leading to severe manifestations at birth or in early childhood. Conditions like rhizomelic chondrodysplasia punctata are characterized by distinctive skeletal and neurological symptoms. Testing is indicated for symptomatic patients or those with familial history of these disorders. Understanding the genetic basis facilitates diagnosis and risk assessment in families.

Special Instructions

Ordering the Peroxisomal Disorders Panel requires coordination with a healthcare provider who is familiar with the patient’s clinical history and suspected condition. Please ensure patient samples are collected and processed according to the specified guidelines to prevent sample degradation and ensure accurate results. Consult the ordering form on the Baylor Genetics website for complete instructions.

Limitations

This massively parallel sequence analysis cannot detect large genomic structural rearrangements, large insertions, and mutations in regulatory regions. Variants identified will require confirmation via Sanger sequencing for clinical decisions. The clinical significance of detected variants may still require further validation in the context of other clinical data.

Test Details

New York Approved