Invitae Elevated Very Long Chain Fatty Acids Panel (including X-ALD)

Casandra

Casandra Test Code IN06210Version 1 (DRAFT)

Performing Lab

Lab Invitae CorporationLab Test ID 06210

Invitae Elevated Very Long Chain Fatty Acids Panel (including X-ALD)

Clinical Use

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

The test may be customized by selecting or removing specific genes. Invitae encourages consultation of the test definition on their website for detailed coverage and exclusions. Additionally, the laboratory employs stringent quality control measures to ensure high analytical sensitivity and specificity, with >99% accuracy for detecting various nucleotide variants and exon-level copy number events. Any detected variants and their constraints will be detailed in the report.

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.

Test Details

New York Approved