Carnitine Palmitoyltransferase II Deficiency via the CPT2 Gene
Use
This test is intended for individuals who present with clinical features suggestive of Carnitine Palmitoyltransferase II (CPT II) deficiency, such as muscle pain, cramps, fatigue, and dark urine after prolonged exercise, or other symptoms associated with CPT II deficiency. It is also suitable for those with elevated acylcarnitines (C16 and/or C18:1) on newborn screening results or as part of reproductive carrier screening for partners of individuals with a known pathogenic variant in the CPT2 gene.
Special Instructions
Ensure proper specimen collection and transportation according to the specified guidelines to avoid delays in testing. This test can be expedited to STAT processing under special conditions.
Limitations
Results may not detect all genetic variants, particularly those in non-coding regions or large structural variants not covered by the CNV analysis. Variants of uncertain significance may be identified, and further familial studies may be required to clarify their impact.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
2-3 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Collect blood in an appropriate tube; observe standard phlebotomy procedures.