Invitae Elevated Arginine (Arginase deficiency) Panel
Use
The Invitae Elevated Arginine (Arginase deficiency) Panel analyzes genes associated with elevated arginine on newborn screening (NBS) or plasma amino acids. Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant would also guide testing and diagnosis of at-risk relatives. Arginase deficiency is one of the few treatable causes of spastic diplegia.
Special Instructions
It is crucial to confirm the diagnosis through genetic testing as elevated arginine levels can be indicative of other conditions. Detailed genetic analysis can assist in the management of the condition and provide insights into testing for at-risk relatives.
Limitations
Analytical sensitivity for single nucleotide variants, insertions and deletions 99%. Larger insertions/deletions may see reduced sensitivity. Certain variants, such as structural rearrangements or those in regions with complex architecture, may not be detected. Promoter, non-coding exons, and other non-coding regions are generally not covered. Single exon copy number events may not always be analyzed.
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)