Invitae Elevated Citrulline (Citrullinemia) Panel
Use
The Invitae Elevated Citrulline (Citrullinemia) Panel analyzes genes associated with elevated citrulline on newborn screening or plasma amino acid analysis. Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. It can also guide testing and diagnosis of at-risk relatives. The panel evaluates conditions with heterogeneous presentations that may include acute metabolic decompensation due to hyperammonemia, metabolic acidosis, or lactic acidosis, among other symptoms.
Special Instructions
Not provided.
Limitations
This assay has >99% analytical sensitivity and specificity for single nucleotide variants, and insertions and deletions smaller than 15bp. Larger insertions or deletions, structural rearrangements, or atypical variants may reduce sensitivity. Single-exon copy number events may not always be analyzed due to sequence properties or data quality. Non-coding exon variants and promoter region changes are not typically analyzed unless specifically listed.
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)
Other tests from different labs that may be relevant