Alport Syndrome, X-linked (COL4A5) Deletion/Duplication (INACTIVE as of 05/15/17: Refer to 2002398)
Ordering Recommendation

This is a second tier test and REQUIRES PERMISSION from ARUP's Genetic Counselor (800-242-2787, x2141) before ordering. Preferred initial test is the sequencing and deletion/duplication test.

Polymerase Chain Reaction/Multiplex Ligation-dependent Probe Amplification
Within 14 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Unacceptable Conditions
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
Interpretive Data
Background Information for: Alport Syndrome, X-linked (COL4A5) Deletion/Duplication
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.
Approximately 1 in 50,000 live births.
X-linked recessive; de novo mutations in 10-15 percent of affected males.
Variable, depending on mutation and sex.
Pathogenic type 4 collagen alpha chain 5 (COL4A5) mutations.
Clinical Sensitivity:
Approximately 10 percent of X-linked Alport syndrome is due to large COL4A5 gene deletions or duplications.
Multiplex ligation-dependent probe amplification (MLPA) to detect large COL4A5 coding region deletions/duplications.
Analytical Sensitivity & Specificity:
99 percent.
Diagnostic errors can occur due to rare sequence variations. Breakpoints for large deletions/duplications will not be determined. COL4A5 base pair substitutions, small deletions/duplications, deep intronic, and regulatory region mutations will not be detected. Mutations in genes, other than COL4A5, are not evaluated. Deletions/duplications in exons 8, 25, 40, 42, and 43 of the COLA5 gene will not be detected.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Component Test Code*Component Chart NameLOINC
2002395Alport Syndrome (COL4A5) Del/Dup Interp53853-8
2002396ALPORT DD Specimen31208-2
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
  • Alport syndrome deletion/duplication assay
  • X-linked Alport syndrome molecular testing