CPT I/II
Order Code: CPTI/II
Epic Lab Code: LAB2936
Order Form: A-1a Miscellaneous Request or Epic Req
Commercial Mail-out Laboratory
6240 RCP
356-3527
Specimen:
Fibroblast
Collection Medium:
Miscellaneous container; contact laboratory
Minimum:
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 notificaiton for submission to lab.
Analytic Time:
2 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
Comments:
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
Test Limitations:
Hepatic CPT1 deficiency is expressed in skin fibroblasts and is a severe hypoketotic hypoglycemic disorder of ten presenting with liver failure. The mild residual enzyme activity (10-20%).
Methodology:
Radioisotope Tracer
CPT Code:
82658, 88233, 87109