Invitae Ornithine Transcarbamylase (OTC) Deficiency Test
Use
The Invitae Ornithine Transcarbamylase (OTC) Deficiency test analyzes the OTC gene associated with OTC deficiency. Genetic testing of this gene may confirm a diagnosis and help guide treatment and management decisions. Identification of disease-causing variants can aid in determining carrier status and diagnosis of at-risk relatives, including asymptomatic heterozygous females. Individuals with any form of OTC frequently present recurrent hyperammonemic episodes often precipitated by protein ingestion, illness or other physiological stress.
Special Instructions
The test is suitable for individuals presenting with hyperammonemia, a positive newborn screen for low plasma citrulline, or a suspected diagnosis of OTC based on clinical presentation or laboratory results. Age of diagnosis and subsequent management are critical determinants of long-term outcomes.
Limitations
The assay achieves over 99% analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions less than 15bp in length, and exon-level deletions and duplications. Sensitivity for larger insertions and deletions may be marginally reduced. The analysis might not detect structural rearrangements or variants embedded in complex architectures. Certain details about variants, such as mosaicism or mapping ambiguity, may not be fully resolved.
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)