ARUP's Laboratory Test Directory

Alport Syndrome, X-linked (COL4A5) Sequencing : 0051786
[ image for: Patient History for Alport Syndrome]
Patient History for Alport Syndrome
  


Mnemonic: ALPORT FGS

Methodology: Polymerase Chain Reaction/Sequencing
Performed: Varies
Reported: Within 28 days
Specimen Required: Collect:  One 3 mL whole blood in lavender (EDTA), pink (K2EDTA) or yellow (ACD Solution A or B) tube.

Transport:  3 mL whole blood at 2-8°C. (Min: 1 mL)

Stability:  Ambient: 3 days; Refrigerated: 1 week; Frozen: Unacceptable
Interpretive Data: Background Information for Alport Syndrome, X-linked (COL4A5) Sequencing:
Characteristics:
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:
Rare diagnostic errors can occur due to primer site mutations. 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.





Please refer to Statement C in the Compliance Statements section in the front of the Laboratory Test Directory.
CPT Code(s): 83891 Isolation; 83898 x46 Amplification; 83904 x46 Sequencing; 83909 x2 capillary electrophoresis; 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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