Adrenoleukodystrophy (X-ALD) Targeted Gene Sequencing

Adrenoleukodystrophy (X-ALD) Targeted Gene Sequencing

Laboratory Fee Schedule

Procedure #

CPT: 81403

 

Adrenoleukodystrophy (X-ALD) Targeted Gene Sequencing

Synonym(s):  X-ALD
Requisition Form G-1B 
(G-1B form ordering information )
 
Test Description X-linked Adrenoleukodystrophy (X-ALD) Targeted Gene Sequencing 
Pre-Approval Needed  N/A 
Supplemental Information Required  Please indicate on the requisition form the variant of interest and/or the exon you are requesting to be sequenced.  
Supplemental Form(s)  N/A 
Performed on Specimens from (sources)  Human
Sample/Specimen Type for Testing 
  • Dried filter paper blood spots
  • EDTA anticoagulated (purple top tube) whole blood 
Minimum Volume/Size Required 
  • One ½ inch dried filter paper blood spot
  • 1mL whole blood
Storage/Preservation Prior to Shipping 

Dried filter paper blood specimens

  • Allow card to dry thoroughly at room temperature in a horizontal position for at least 3 hours. Do NOT allow specimen to touch any surface. 
  • Cover dried specimen with attached flap.

Whole blood specimens 

  • Refrigerate whole blood samples until shipment.
Transport Medium EDTA acceptable for whole blood 
Specimen Labeling  Two patient-specific identifiers required (e.g., patient full name, date of birth, Medical record number) 
Shipping and Specimen Handling Requirements 

Ship all specimens according to Dangerous Good Regulations, IATA, and/or CFR 49.

DRIED FILTER PAPER BLOOD SPECIMENS

  • U.S. Postal regulations require Double containment of dried blood filter paper specimens. Ensure specimens are thoroughly dried prior to placing in envelope.
  • 1st containment: Use the attached wrap-around cover with printed universal biohazard symbol. Do not put biohazard labels on outside of envelope.
  • 2nd containment: Place dried filter paper blood specimen in an envelope that is not hermetically sealed.. Do not put specimens in plastic bags.
  • Ship as soon as possible; within 24hrs of collection. 
  • Avoid temperatures greater than 100°F. 

WHOLE BLOOD SHIPPING REQUIREMENT 

  • Refrigerate sample until shipment. 
  • Whole blood specimens must be shipped overnight at room temperature or refrigerated and received within 7 days of collection. 
  • U.S. Postal regulations require Triple containment: See instructions on how to triple contain a specimen for shipping.
Method  PCR Amplification and Sanger Sequencing 
Turn-around Time  Turnaround Time: 5 working days 
Interferences/Limitations  Pathogenic intronic variants, large deletions/duplications, or whole gene deletions/duplications may not be identified by this methodology. Molecular based testing is highly accurate. However, rare diagnostic errors may occur. Interpretation of results is dependent on the accuracy of information given to the laboratory and is limited by current technology and available X-ALD knowledge.  
Common Causes for Rejection 
  • Use of expired specimen collection device 
  • No date of collection provided
  • Coagulated blood or insufficient amount of blood 
  • Patient information incomplete or invalid 
  • Patient name on specimen does not match name on request form.

Visit website for complete list. 
Additional Information 

Interpretation:  Available on the result report.
Diagnostic Information: X-ALD DNA testing is performed in support of the Newborn Screening Program at DSHS and for other individuals. X-ALD Sanger sequencing methodology can detect approximately 97% of the known variants in this gene. Test results should not be used as a diagnostic test, but should be interpreted in the context of clinical findings, family history, and other laboratory data.
Additional information for specimen collection:

 

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