Invitae Adult Refsum Disease Panel
Use
The Invitae Adult Refsum Disease Panel analyzes the PHYH and PEX7 genes, associated with adult Refsum disease. It aids in diagnosis when Refsum disease is suspected due to clinical symptoms or biochemical findings. Adult Refsum disease is a peroxisomal disorder with symptoms like night blindness, loss of smell, neuropathy, hearing loss, and ataxia. Dietary restriction of phytanic acid may help in reducing symptoms.
Special Instructions
Preferred specimen is whole blood in a purple-top EDTA tube. Saliva, buccal swab, and gDNA are also accepted. Dietary restrictions may help manage symptoms. Contact client services for questions regarding the test's gene coverage or variant analysis.
Limitations
The test analyzes full-gene sequencing and deletion/duplication using NGS. It covers coding exons and adjacent intronic regions. Variants outside these regions are not analyzed. Sensitivity is >99% for SNVs and indels less than 15bp. Detection of deletions/duplications is at exon-level resolution. Certain variant types like structural rearrangements may not be detected. Complexity in sequence regions can affect detection accuracy.
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 (K2EDTA or K3EDTA)