| Interpretive Data: |
Background information for Alport Syndrome, X-linked (COL4A5) 3 Mutations:
Characteristics: Progressive renal and cochlear disease with occasional ocular involvement; end-stage renal disease typically occurs in males after age 30.
Incidence: Less than 1 in 30,000.
Inheritance: X-linked recessive.
Penetrance: 100 percent in males, variable in females.
Cause: Type 4 collagen alpha 5 chain (COL4A5) mutations.
Mutations Tested: C1564S (c.4692G>A), L1649R (c.4946T>G), and R1677Q (c.5030G>A).
Clinical Sensitivity: 75 percent.
Methodology: Polymerase chain reaction and fluorescence monitoring.
Analytical Sensitivity & Specificity: 99 percent.
Limitations: Mutations other than those targeted will not be detected; analytical sensitivity may be compromised by rare primer or probe site mutations.
This test is performed pursuant to an agreement with Roche Molecular Systems, Inc.
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 Amplification; 83900 Multiplex amplification; 83896 x 6 Nucleic acid probe; 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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