Invitae Urea Cycle Disorders Panel
Use
The Invitae Urea Cycle Disorders Panel analyzes up to 15 genes encoding the enzymes and transporter proteins involved in the urea cycle. The urea cycle is a biochemical pathway responsible for the detoxification of ammonia, the waste product of protein metabolism. Partial or complete deficiency in the function of the affected enzyme or transporter results in hyperammonemia, which, if untreated, can cause severe brain damage and death. Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of disease-causing variants provide accurate recurrence risk assessment and carrier status in at-risk relatives.
Special Instructions
Not provided.
Limitations
This assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and 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 by this assay unless explicitly guaranteed.
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