| Interpretive Data: |
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.
Inheritance: X-linked.
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.
Refer to Statement C under Testing Information at http://www.aruplab.com.
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| CPT Code(s): |
Sequencing: 83891 Isolation; 83898 x10 Amplification; 83904 x10 Sequencing; 83909 Capillary electrophoresis; 83912 Interpretation and report. Del/Dup: 83896 x10 Nucleic Acid Probes; 83898 x10 Amplification; 83914 x10 Extension; 83909 Capillary electrophoresis - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
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Cross References: |
OTC (Ornithine Transcarbamylase Deficiency (OTC) Sequencing and Deletion/Duplication)
, Urea Cycle Defect (Ornithine Transcarbamylase Deficiency (OTC) Sequencing and Deletion/Duplication)
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