Carnitine Palmitoyltransferase I or II Deficiency CPT I/II

Label Mnemonic:	CPTI/II
Epic code:	LAB2936
Downtime form:	A-1a Doctor/Provider Orders - Pathology Core and Specialty Care Nursery

Commercial Mailout Laboratory
6240-8 RCP
356-8593

Specimen(s):

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 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

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

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 #3724.  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%).

Methodology:

Radioisotope Tracer

CPT Code:

82658, 88233, 87109