Invitae Low Citrulline Panel
Use
The Invitae Low Citrulline Panel analyzes genes associated with low citrulline levels, indicated by newborn screening or plasma amino acid analysis. It is specifically aimed at identifying proximal urea cycle defects, which are signified by low citrulline levels. Testing is recommended for individuals with positive newborn screens for low citrulline or a suspected urea cycle defect. Identifying a genetic cause can guide diagnoses of at-risk relatives, determine treatment, and aid in long-term metabolic management to improve prognosis.
Special Instructions
The test confirms diagnosis and guides treatment. It can be customized by removing genes.
Limitations
The assay primarily analyzes coding regions and their adjacent intronic sequences. It may not detect certain structural variants or give complete details on mosaicism, phasing, or mapping ambiguities. Variants in promoter and non-coding regions are generally not covered, unless specified. Single-exon copy number events may be missed due to inherent sequence properties.
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)