Niemann-Pick disease typa A and B
- 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.: GTR000330870.1
- Last updated: 2013-11-29
- Annual Review past due read more
- Test version history
- 330870.1, last updated: 2013-11-29
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 Sphingomyelin/cholesterol lipidosis
Offered by Laboratory of Human Genetics
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Niemann-Pick disease typa A and B
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation
Click Indication tab for more information.
Not provided
Specimen source
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Molecular Genetics
- CSequence analysis of the entire coding region
- Bi-directional Sanger Sequence Analysis
- Applied Biosystems 3730 capillary sequencing instrument
Not provided
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Not provided
Test services
HelpLaboratory's order or catalog code for the test (used in the order requisition form).- Clinical Testing/Confirmation of Mutations Identified Previously
- Genetic counseling
- Result interpretation
- Custom Prenatal Testing
- Custom mutation-specific/Carrier testing
- ACMG ACT, 2022American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Decreased acid sphingomyelinase, Acid Sphingomyelinase Deficiency (ASMD), 2022
- ACMG Algorithm, 2022American College of Medical Genetics and Genomics, Algorithm, Acid Sphingomyelinase Deficiency (ASMD): Decreased Acid Sphingomyelinase (ASM), 2022
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