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UBA1 MUTATION, QUANT, DDPCR, V(MAYO)

Test Code
UBA1Q


CPT Codes
81403

Preferred Specimen
Lavender top (EDTA). 4 mL


Instructions
1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

3. Label specimen as blood.

 


Transport Container
Lavender top (EDTA)


Transport Temperature
Refrigerated (preferred)


Specimen Stability
Specimen Stability: Refrigerated (preferred) 7 days/Ambient 7 days


Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Gross hemolysis
Moderately to severely clotted


Clinical Significance
A highly sensitive quantitative assay for the detection of 7 UBA1 mutations (c.122T>C, p.Met41Thr; c.121A>G, p.Met41Val; c.121A>C, p.Met41Leu; c.118-1G>C, p.?; c.118-2A>C, p.?; c.118-9_118-2del, p.?; and c.167C>T, p.Ser56Phe).


Performing Laboratory
Mayo Clinic Laboratories

Additional Information
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Last Updated: September 15, 2026


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.