Invitae Zellweger Spectrum Disorder Panel
Use
The Invitae Zellweger Spectrum Disorder Panel analyzes genes associated with peroxisomal biogenesis disorders that can cause Zellweger Spectrum Disorder (ZSD). This panel may be appropriate for individuals with signs and symptoms of a peroxisomal biogenesis disorder or those with a suspected ZSD due to abnormal plasma very-long-chain fatty acids (VLCFA) or phytanic acid and pristanic acid levels. Genetic testing of these genes may confirm a diagnosis and aid in treatment and management decisions.
Special Instructions
This panel includes genes associated with adult-onset peroxisomal disorders such as AMACR. The test can be customized by removing selected genes. Preferred specimen is 3mL whole blood in a purple-top EDTA tube, though saliva, buccal swab, and gDNA are also accepted. Vans outside the targeted regions are not analyzed.
Limitations
The assay covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence. Variants outside these regions, structural rearrangements, and complex sequence structures may not be detected. In very rare cases, analyzed DNA may not represent the patient's constitutional genome.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube
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