CLN1 and CLN2, BS
GTR Test Accession: Help GTR000613110.1
METABOLIC DISEASEINHERITED DISEASENERVOUS SYSTEM ... View more
Last updated in GTR: 2023-12-04
Last annual review date for the lab: 2023-05-30 LinkOut
At a Glance
Diagnosis
Neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis 1; Neuronal ceroid lipofuscinosis 2
palmitoyl-protein thioesterase 1 (PPT1); tripeptidyl peptidase 1 (TPP1)
Biochemical Genetics - Analyte: Tandem mass spectrometry (MS/MS)
Supporting the biochemical diagnosis of two neuronal ceroid lipofuscinoses, CLN1 …
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Test short name: Help
NCLBS
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Test Order Code: Help
CPT codes: Help
**AMA CPT codes notice
Lab contact: Help
Gisele (Gessi) Bentz Pino, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
biochemicalgenetics@mayo.edu
1-800-533-1710
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
https://www.mayocliniclabs.com/test-catalog/Overview/616838#Specimen
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 3
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 2
Analyte Associated Condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Analyte
Tandem mass spectrometry (MS/MS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Hofmann SL, Peltonen L. The neuronal ceroid lipofuscinoses. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA. eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; Accessed July 18, 2023. Available at https://ommbid.mhmedical.com/content.aspx?bookid=2709§ionid=225548100

Target population: Help
Supporting the biochemical diagnosis of two neuronal ceroid lipofuscinoses, CLN1 and CLN2. This test is not useful for carrier detection.
View citations (2)
  • Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses. Kohlschütter A, et al. CNS Drugs. 2019;33(4):315-325. doi:10.1007/s40263-019-00620-8. PMID: 30877620.
  • Hofmann SL, Peltonen L. The neuronal ceroid lipofuscinoses. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA. eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; Accessed July 18, 2023. Available at https://ommbid.mhmedical.com/content.aspx?bookid=2709§ionid=225548100
Research:
Is research allowed on the sample after clinical testing is complete? Help
Research testing is only performed under IRB approved protocol with an opt-out policy in place.
Recommended fields not provided:
Technical Information
Test Procedure: Help
One dried blood spot sample (DBS) is incubated with a mix of substrate and internal standard (IS) for iduronate 2-sulfatase, heparan N-sulfatase, alpha-N-acetylglucosaminidase, N-acetylgalactosamine-sulfate, beta-galactosidase, arylsulfatase B, beta-glucuronidase, and tripeptidyl peptidase 1. A second DBS sample is incubated with a mix of substrate and IS for acetyl-CoA:alpha-glucosaminide N-acetyltransferase; and a … View more
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Accuracy was assessed by analysis of normal and deficient specimens (N=134); all samples were clinically concordant. Intra assay precision was performed at 3 levels: CV results ranged from 7% to 13% (N=20 each). Inter assay precision was performed at 3 levels: CV results ranged from 9% to 18% (N=30 each). … View more
Assay limitations: Help
Deficiency of tripeptidyl peptidase 1 (TPP1) can also be indicative of autosomal recessive spinocerebellar ataxia-7. Individuals with pseudodeficiency alleles can show reduced enzyme activity. Carrier status (heterozygosity) for these conditions cannot be reliably detected. Enzyme levels may be normal in individuals receiving enzyme replacement therapy or who have undergone hematopoietic … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory

Description of PT method: Help
Intra-laboratory alternative assessment of performance through patient blind or blind donor testing

Description of internal test validation method: Help
This test was laboratory developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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