Acid Sphingomyelinase Deficiency
- 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.: GTR000309865.8
- Last updated: 2019-10-08
- Test version history
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 Dep. of Paediatrics and Inherited Metabolic Disorders
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Acid Sphingomyelinase Deficiency (m. Niemann-Pick type A/B)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis
Click Indication tab for more information.
Order URL HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: http://udmp.lf1.cuni.cz/en/diagnostic-labs
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.- Biochemical Genetics
- EEnzyme assay
- Enzyme activity
- Molecular Genetics
- CSequence analysis of the entire coding region
- Bi-directional Sanger Sequence Analysis
- Applied Biosystems 3500xL 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).- 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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