Invitae Organic Acidemias Panel
Use
The Invitae Organic Acidemias Panel analyzes genes associated with organic acidemias, which may be appropriate for patients presenting with symptoms like increased levels of urine organic acids, metabolic acidosis with an increased anion gap, and metabolic deterioration during periods of illness, fasting, trauma, or surgery. Genetic testing confirms diagnosis and guides treatment and management decisions.
Special Instructions
Consultation with client services is advised for any questions regarding gene coverage or test limitations. Additionally, a specimen collection kit is available upon request.
Limitations
This assay may not detect all variants due to complex sequence architectures. Variants outside covered regions, including promoter and certain non-coding areas, may not be analyzed. Sensitivity for large insertions/deletions might be marginally reduced. Deletion/duplication analysis may not resolve single-exon copy number due to low data quality.
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)