ARUP's Laboratory Test Directory

Alport Syndrome, X-Linked (COL4A5) 3 Mutations : 0051710
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Patient History for Alport Syndrome Testing
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Additional Technical Information


Mnemonic: ALPORT DNA

Ordering Recommendation: Diagnostic testing for adult-type X-linked Alport syndrome. In females, carrier screening for adult-type X-linked Alport syndrome. In males, predictive testing for adult-type X-linked Alport syndrome.
Methodology: Polymerase Chain Reaction/Fluorescence Monitoring
Performed: Mon, Thu
Reported: 4-10 days
Specimen Required: Collect: Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation: Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature: Refrigerated.

Stability (collection to initiation of testing): Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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.



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
CPT Code(s): 81479