Specimen:

Fibroblast

Collection Medium:

Minimum:

Fibroblast culture submitted to refernce lab after growth of fibroblast 
from skin biopsy.  Fibroblasts are grown in Cytogenetics Laboratory.

Two confluent mycoplasma-tested T-25cm^2 tissue culture flasks of low
passage number (<8) fibroblasts or amniocytes in tissue culture medium.

Analytic Time:

2 weeks

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