Name: Palmitoyl Protein Thioesterase (CLN1)
Test Name: Palmitoyl Protein Thioesterase (CLN1)
Health Link Test Code: HCCLN1
LIS Test Code: CLN1
Useful in diagnosis of NCL due to PPT deficiency in a symptomatic patient, primarily the infantile-onset form. This test is not used for carrier testing.
Testing Site: Testing will be sent to an approved reference laboratory
Days Performed: Once a week.
In-Lab Turnaround Time: 8 - 12 days.
Collection Container: Yellow top(with ACD-A/B anticoagulant)
Also Acceptable: Green top (with sodium heparin anticoagulant)
This blood must be received and processed by performing lab within 24 hours of collection. Blood must be received by UWHC Hospital Laboratory Monday-Thursday before 1200. Filter paper blood spots may be submitted if shipping will be delayed or if 5-10 mL blood cannot be drawn. Filter paper may be obtained from UWHC Client Services (B4/220) at (608) 263-7060.
Collection Volume: 10 mL
Pediatric Collection Volume: 5 mL
Sample Analyzed: Whole Blood
Testing Volume: 10 mL
Pediatric Testing Volume: See collection instructions.
Transport specimen to UWHC Hospital Laboratory.
Spun or frozen blood.
Interpretation provided with results.