Carnitine Palmitoyltransferase I or II Deficiency CPT I/II
Label Mnemonic: | CPTI/II |
Epic code: | LAB2936 |
Downtime form: | Doctor/Provider Orders - Pathology Core and Specialty Care Nursery |
Commercial Mailout Laboratory
6240-8 RCP
356-8593
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.
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
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:
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