Pompe Disease 2ND Tier NBS, BS
GTR Test Accession: Help GTR000597384.3
INHERITED DISEASECARDIOVASCULARMETABOLIC DISEASE ... View more
Last updated in GTR: 2024-04-25
Last annual review date for the lab: 2024-05-28 LinkOut
At a Glance
Diagnosis
Glycogen storage disease, type II
Creatine, Creatinine and Cr/Crn ratio; acid alpha-glucosidase
Biochemical Genetics - Analyte: Tandem mass spectrometry (MS/MS); ...
Second-tier testing of newborns with an abnormal primary screening result …
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Test short name: Help
PD2T
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
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/Specimen/65296
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: 1
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 2
Analyte Associated Condition
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Analyte
Tandem mass spectrometry (MS/MS)
Enzyme assay
Tandem mass spectrometry (MS/MS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Tortorelli S, Eckerman JS, Orsini JJ, Stevens C, Hart J, Hall PL, Alexander JJ, Gavrilov D, Oglesbee D, Raymond K, Matern D, Rinaldo P. Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease. Genet Med. 2018;20(8):840-846. doi:10.1038/gim.2017.190. Epub 2017 Nov 02. PMID: 29095812.

Target population: Help
Second-tier testing of newborns with an abnormal primary screening result for Pompe disease (decreased acid alpha-glucosidase enzyme activity). Follow-up testing for evaluation of an abnormal newborn screening result for Pompe disease.
View citations (1)
  • Tortorelli S, Eckerman JS, Orsini JJ, Stevens C, Hart J, Hall PL, Alexander JJ, Gavrilov D, Oglesbee D, Raymond K, Matern D, Rinaldo P. Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease. Genet Med. 2018;20(8):840-846. doi:10.1038/gim.2017.190. Epub 2017 Nov 02. PMID: 29095812.
Recommended fields not provided:
Technical Information
Test Procedure: Help
Dried blood spots are processed using 2 analytical protocols with postanalytical integration of all test results. Protocol 1: A dried blood spot is extracted by the addition of methanol with known concentrations of isotopically labeled amino acids and acylcarnitines, which are used as internal standards. The extract is derivatized by … View more
View citations (2)
  • Turgeon C, Magera MJ, Allard P, Tortorelli S, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Matern D. Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots. Clin Chem. 2008;54(4):657-64. doi:10.1373/clinchem.2007.101949. Epub 2008 Feb 15. PMID: 18281422.
  • Tortorelli S, Turgeon CT, Gavrilov DK, Oglesbee D, Raymond KM, Rinaldo P, Matern D. Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry. Clin Chem. 2016;62(9):1248-54. doi:10.1373/clinchem.2016.256255. Epub 2016 Jul 20. PMID: 27440509.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Recovery was used to assess accuracy; mean recovery was 105%. Method comparison was acceptable with 6 Pompe patients and >1000 normal specimens. Intra assay precision was performed at several levels: %CV ranged from 4%-17% (N=20 each). Inter assay precision was performed at several levels: %CV ranged from 4%-27% (N≥10 each).
Assay limitations: Help
This test may not detect some milder or later onset forms of Pompe disease. Carrier status (heterozygosity) for Pompe disease cannot be reliably detected. A positive test result is strongly suggestive of a diagnosis but requires follow-up using a stand-alone biochemical or molecular assay, which is best coordinated by local … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
Centers for Disease Control and Prevention Newborn Screening Quality Assurance Program, CDC DLS

Description of PT method: Help
Formal PT program

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

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.