Carnitine Palmitoyltransferase I or II Deficiency CPT I/II
Label Mnemonic: CPTI/II
Epic Lab Code: LAB2936
Downtime Form: A-1a Doctor/Provider Orders - Pathology Core and Specialty Care Nursery
Commercial Mail-out Laboratory
5231 RCP
Collection Medium:
Miscellaneous container; contact laboratory
Fibroblast culture submitted to reference lab after growth of fibroblast from skin biopsy. Fibroblasts are grown in Cytogenetics Laboratory.

Two confluent mycoplasma-tested T-25cm2 tissue culture flasks of low passage number (<8) fibroblasts or amniocytes in tissue culture medium.

Reference Laboratory "The Children's Hospital of Philadelphia, The Metabolic Disease Laboratory" REQUIRES scheduled notification for submission to lab.
Turn Around Time:
6 weeks upon receipt at reference laboratory
Reference Range:
CPT1: 0.62 plus or minus 0.26
CPT2: 0.28 plus or minus 0.07
nmol palmitoyl carnitine formed/min/mg protein

CPT2: 15.8 plus or minus 4.0
CPT1/CPT2 ratio: 2:14 plus or minus 0.07
nmol palmitoyl CoA formedf/min/mg protein
Provide clinical history including: Patient name, date of birth and test requested Requesting physician's name and phone number Brief clinical history including test results This mailout test requires pathologist approval for orders during inpatient encounters. Mailouts staff will not process order without approval. The pathologist covering mailouts approval can be reached at pager #5379. If approval is given, the name of the pathologist can be selected in the drop-down menu to the right of the approval warning in Epic when ordering the test.
Test Limitations:
Hepatic CPT1 deficiency is expressed in skin fibroblasts and is a severe hypoketotic hypoglycemic disorder often presenting with liver failure. The mild residual enzyme activity (10-20%).
Radioisotope Tracer
CPT Code:
82658, 88233, 87109