#ExistInterpData>Background Information for Ornithine Transcarbamylase Deficiency (OTC) Sequencing and Deletion/Duplication:
Characteristics: Classic OTC deficiency is a urea cycle disorder characterized by hyperammonemia, cyclical vomiting, seizures, lethargy, coma and neonatal death if not treated. Clinical presentation varies widely in females, and some males can have non-classical forms.
Incidence: Approximately 1 in 20,000.
Penetrance: Variable depending on sex and mutation.
Cause: Pathogenic OTC gene mutations.
Clinical Sensitivity: Approaches 90 percent.
Methodology: Bidirectional sequencing of the entire coding region and intron-exon boundaries of the OTC gene. Multiplex ligation-dependent probe amplification (MLPA) to detect large OTC coding region deletions/duplications.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Rare diagnostic errors can occur due to primer or probe site mutations. Regulatory region mutations and deep intronic mutations will not be detected. Large, single exon 1 deletions/duplications will not be detected. The breakpoints of large deletions/duplications will not be determined.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
See Compliance Statement C: www.aruplab.com/CS
||OTC (Ornithine Transcarbamylase Deficiency (OTC) Sequencing and Deletion/Duplication)
, Urea Cycle Defect (Ornithine Transcarbamylase Deficiency (OTC) Sequencing and Deletion/Duplication)