Invitae Elevated C16-OH, C16:1-OH, C18-OH and C18:1-OH Panel
Use
The Invitae Elevated C16-OH, C16:1-OH, C18-OH and C18:1-OH Panel analyzes the two genes associated with elevations of C16-OH, C16:1-OH, C18-OH, and C18:1-OH acylcarnitines, which are indicators of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and trifunctional protein (TFP) deficiency. The test may confirm a diagnosis and aid in treatment and management decisions, especially for patients presenting symptoms within the first few months to two years of age, including metabolic crises and related complications.
Special Instructions
Emergency protocols may be necessary during intercurrent illnesses to prevent catabolism. Although early therapy can reduce mortality, morbidity is significant. Free consultation with client services for questions regarding coverage and limitations of genetic analysis is available.
Limitations
This test achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions under 15bp, and exon-level deletions and duplications. Larger insertions and deletions have reduced sensitivity. Structural rearrangements and variants in complex regions may not be detected. Single-exon copy number events could be missed due to sequence properties or data quality. Non-coding regions and variants outside targeted areas are not covered unless specified.
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)