X-linked Adrenoleukodystrophy (X-ALD) Full Gene Sequencing



X-linked Adrenoleukodystrophy (X-ALD) Full Gene Sequencing

Laboratory Fee Schedule

Procedure #

CPT: 81405


X-linked Adrenoleukodystrophy (X-ALD) Full Gene Sequencing

Synonym(s):

X-ALD

Requisition Form

G-1B 
(G-1B form ordering information

Test Description

X-linked Adrenoleukodystrophy (X-ALD) Full Gene Sequencing 

Pre-Approval Needed

N/A

Supplemental Information Required

N/A

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: 14 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.:  Available on the result report.

Additional information for specimen collection:


Last updated October 4, 2021