#ExistInterpData>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.
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