Acylcarnitine Profile, DBS

Test Code
14576


CPT Codes
82017<br>This test is not available for New York patient testing<br>Limited Access Code

Preferred Specimen
3 completely filled Dried Blood Spots (DBS)


Minimum Volume
1 blood spot


Instructions

The preferred specimen is dried blood spots (DBS) because the long-chain acylcarnitine's are absorbed on the surface of the red cells so that the normal levels are much higher for DBS than in plasma. Therefore, the elevations of these in some milder forms of long-chain fatty acid oxidation disorders may not be as reliably detected in the plasma as they are in the DBS. Serum levels are acceptable.

Transport temperature: DBS - room temperature or cold packs depending on how the specimen was stored prior to transport.

Air-dry for 4-6 hours and store individually until transport in glassine envelope.

All specimens must be labeled with at least two patient identifiers that match the test requisition. All specimens will be rejected if they are received without two matching patient identifiers.

Use indelible ink or gummed labels to label specimens.

As per CLIA and CAP regulations, all specimens must be submitted with a complete test requisition.

Place specimens inside a specimen transport bag and the associated documents inside the pouch in the specimen transport bad. Do NOT place the documentation inside the specimen transport bag with the specimen.

• Laboratory Hours: Monday through Friday, 8:30 am - 5:00 pm (CST).
• Always ship Monday-Thursday using an overnight trackable courier.
• No Saturday deliveries accepted.

• For STAT analysis, please contact the CLIA Director, Erland Arning, Ph.D. CC (NRCC)
(Erland.Arning@BSWHealth.org)
• Only critical results are reported immediately by telephone and fax.
• Preliminary results are available by telephone, fax or email within the turnaround time specified.
• Result reports are faxed to the submitter and physician (if provided).

The IMD does not bill patient, Medicare, Medicaid or insurance.

Please contact client services at (214) 820-4533 with question about test price, CPT codes, billing or invoicing.

SHIPPING ADDRESS:
Institute of Metabolic Disease
ATTN: Sample Processing
3434 Live Oak Street
Dallas, TX 75204



Transport Temperature
Room temperature or Refrigerated (cold packs) - See instructions


Specimen Stability
Room temperature: 7 days
Refrigerated: 14 days
Frozen: 30 days


Methodology
Tandem Mass Spectrometry of Butylated Acylcarnitines

Setup Schedule
Set up: Varies; Report available: 3 days


Reference Range
See Laboratory Report


Clinical Significance
This test is valuable for detecting most of the fatty acid oxidation disorders including VLCAD, CPTII, LCHAD or trifunctional protein deficiency, MCAD, MADD and SCAD. The test can also detect many of the more common organic acid disorders such as isovaleric acidemia, propionic acidemia, methylmalonic acidemia, thiolase deficiency and 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Quantitative results for 31 individual acylcarnitine's are reported with age related reference ranges (for dried blood spots) and interpretations.




The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.