GTR Test Accession:
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GTR000613110.2
Last updated in GTR: 2024-04-24
View version history
GTR000613110.2, last updated: 2024-04-24
GTR000613110.1, last updated: 2023-12-04
Last annual review date for the lab: 2024-05-28
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At a Glance
Test purpose:
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Diagnosis
Conditions (3):
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Neuronal ceroid lipofuscinosis;
Neuronal ceroid lipofuscinosis 1;
Neuronal ceroid lipofuscinosis 2
Analytes (2):
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palmitoyl-protein thioesterase 1 (PPT1);
tripeptidyl peptidase 1 (TPP1)
Methods (1):
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Biochemical Genetics - Analyte: Tandem mass spectrometry (MS/MS)
Target population: Help
Supporting the biochemical diagnosis of two neuronal ceroid lipofuscinoses, CLN1 …
Clinical validity:
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Not provided
Clinical utility:
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Establish or confirm diagnosis
Ordering Information
Offered by:
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Test short name:
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NCLBS
Specimen Source:
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- Dried blood spot (DBS) card
- Peripheral (whole) blood
- View specimen requirements
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:
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NCLBS
View other test codes
View other test codes
CPT codes:
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Lab contact:
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Gisele (Gessi) Bentz Pino, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
biochemicalgenetics@mayo.edu
1-800-533-1710
biochemicalgenetics@mayo.edu
1-800-533-1710
Contact Policy:
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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:
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https://www.mayocliniclabs.com/test-catalog/Overview/616838#Specimen
Order URL
Order URL
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Based on applicable state law
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Test strategy
Conditions
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Total conditions: 3
Condition/Phenotype | Identifier |
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Test Targets
Analytes
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Total analytes: 2
Analyte | Associated Condition |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Analyte
Tandem mass spectrometry (MS/MS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis
Clinical utility:
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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:
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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?
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N/A
N/A
Recommended fields not provided:
Clinical validity,
What is the protocol for interpreting a variation as a VUS?,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
Will the lab re-contact the ordering physician if variant interpretation changes?,
Sample negative report,
Sample positive report
Technical Information
Test Procedure:
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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 …
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Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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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). …
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Assay limitations:
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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 …
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Proficiency testing (PT):
Is proficiency testing performed for this test?
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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.
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:
Test Confirmation,
Citations to support assay limitations,
Citations to support internal test validation method,
Citations for Analytical validity,
PT Provider,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
FDA exercises enforcement discretion
Additional Information
Reviews:
Clinical resources:
IMPORTANT NOTE:
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Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.