Invitae Elevated Very Long Chain Fatty Acids Panel (including X-ALD)
Use
The Invitae Elevated Very Long Chain Fatty Acids Panel is used to analyze genes associated with elevated very long chain fatty acids (VLCFAs) in newborn screening or serum fatty acid profiles, including conditions like X-linked adrenoleukodystrophy and Zellweger Spectrum disorders. It aids in confirming diagnoses and guiding treatment and management decisions. The panel includes genes associated with both infant-onset and adult-onset peroxisomal disorders, such as AMACR-related conditions, thus offering a comprehensive genetic evaluation for these disorders.
Special Instructions
Not provided.
Limitations
The assay achieves high sensitivity and specificity for single nucleotide variants and small insertions/deletions. However, certain types of structural rearrangements, sequence-conversion events, and complex regions like short tandem repeats may not be detected. Single-exon copy number events might occasionally be missed due to inherent sequence complexities. The assay does not typically cover non-coding regions unless explicitly stated, and variants outside the targeted exome regions are generally not analyzed. The test uses genomic DNA; thus, it might not always represent the primary genome due to factors like bone marrow transplants or neoplasms.
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)
Other tests from different labs that may be relevant