| Interpretive Data: |
Background Information for Alport Syndrome, X-linked (COL4A5) Sequencing:
Characteristics: Progressive renal and cochlear disease with 30-40 percent incidence of ocular involvement; 60 percent of males reach end stage renal disease by age 30 and 85 percent have sensorineural deafness by age 40.
Incidence: Estimated to be between 1 in 5,000 to 1 in 50,000 live births.
Inheritance: X-linked recessive; de novo mutations in 10-15 percent of affected males.
Penetrance: Variable depending on mutation and sex..
Cause: Type 4 collagen (COL4A5) alpha chain mutations.
Clinical Sensitivity: Greater than 80 percent for X-linked Alport syndrome.
Methodology: Bidirectional sequencing of the entire COL4A5 coding region and intron-exon boundaries.
Analytical Sensitivity & Specificity: 99 percent.
Limitations: Rare diagnostic errors can occur due to primer site mutations. Regulatory region and deep intronic mutations will not be detected. Large deletions/duplications will not be detected in females. Mutations in genes other than COL4A5 are not evaluated.
Please refer to Statement C in the Compliance Statements section in the front of the Laboratory Test Directory.
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| CPT Code(s): |
83891 Isolation; 83898 x46 Amplification; 83904 x46 Sequencing; 83909 x2 capillary electrophoresis; 83912 Interpretation and report. - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
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