Invitae Elevated C5-OH Panel
Use
The Invitae Elevated C5-OH Panel analyzes genes that are associated with elevations of C5-OH acylcarnitine on newborn screening or plasma acylcarnitine analysis. Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of disease-causing variants provides accurate risk assessment and carrier status for at-risk relatives. This broad panel allows for an efficient evaluation of many potentially relevant genes based on a single clinical indication, particularly beneficial for patients presenting with elevated C5-OH who could have a wide range of genetically heterogeneous disorders.
Special Instructions
Turnaround time is 10–21 calendar days, with an average of 14 days. The test is New York approved, and specimens can be sent using a specimen collection kit available upon request. Invitae is a CAP-accredited and CLIA-certified laboratory.
Limitations
The test achieves >99% analytical sensitivity and specificity for single nucleotide variants, insert/deletions <15bp, and exon-level deletions/duplications. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements, may not be detected. Sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered unless explicitly stated otherwise.
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)