Alport Syndrome, X-linked (COL4A5) Sequencing
Ordering Recommendation

Acceptable genetic test for the detection of variants causing X-linked Alport syndrome.

Polymerase Chain Reaction/Sequencing
21-28 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) Sequencing:
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: Diagnostic errors can occur due to rare sequence variations. 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.

Statement C: Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Hotline History
Component Test Code*Component Chart NameLOINC
0051787Alport Syndrome (COL4A5) Sequencing
2001337ALPORT FGS Specimen
* 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 view this test within the Laboratory Test Directory found at
  • Alport syndromesequencing assay
  • X-linked Alport syndrome molecular testing