LSD/X-ALD Newborn Screen, BS

GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000603787.1
Last updated: 2023-05-30
Test version history
- 603787.1, last updated: 2023-05-30

Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Lysosomal storage disease
Offered by Mayo Clinic Laboratories

Performance Characteristics

Entire test performed in-house

Accuracy was assessed by analysis of positive and negative specimens; all samples were clinically concordant. Intra assay precision was performed at 7 levels: CV results ranged from 3%-244% where higher CVs were obtained for physiologically low analyte concentrations near zero (N=20 each). Inter assay precision was performed at 3 levels: CV results ranged from 7%-29% where higher CVs were obtained for physiologically low analyte concentrations near zero (N=20 each).

Citations

Not provided

Carrier status (heterozygosity) for these conditions cannot be reliably detected. A positive test result is strongly suggestive of a diagnosis but requires follow-up by stand-alone biochemical or molecular assay, which is best coordinated by local genetics providers. Some cases with milder or later onset disease may not display sufficiently abnormal results during the newborn period and, therefore, yield false-negative results.

This test was laboratory developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements.

Citations

Not provided

Is proficiency testing performed for this test? HelpWhether the test undergoes periodic internal or external evaluation of the accuracy of test results. Lab-provided.: Yes
Method used for proficiency testingHelpMethod used for external or internal evaluation of the accuracy of test results. Lab-provided.: Formal PT program & Inter-Laboratory
PT ProviderHelpProvider used for proficiency testing. Lab-provided.: Centers for Disease Control and Prevention Newborn Screening Quality Assurance Program, CDC DLS
PT Description: Formal PT program and Inter-laboratory comparison with outside laboratory(s)

FDA Category Designation: FDA exercises enforcement discretion

Reviews

Clinical resources

Consumer resources

MedlinePlus

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the 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.

LSD/X-ALD Newborn Screen, BS

Performance Characteristics

Availability

Analytical Validity

Citations

Assay Limitation(s)

Internal Test Validation Method

Citations

Proficiency Testing (PT)

FDA Regulatory Clearances of the Test

Reviews

Clinical resources

Consumer resources