Acid Sphingomyelinase Deficiency
GTR Test Accession: Help GTR000309865.8
Last updated in GTR: 2019-10-08
Last annual review date for the lab: 2023-10-12 LinkOut
At a Glance
Sphingomyelin/cholesterol lipidosis
Genes (1): Help
SMPD1 (11p15.4)
Biochemical Genetics - Enzyme assay: Enzyme activity; ...
Not provided
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Ordering Information
Offered by: Help
Dep. of Paediatrics and Inherited Metabolic Disorders
View lab's website
View lab's test page
Test short name: Help
m. Niemann-Pick type A/B
Lab contact: Help
Lenka Dvorakova, PhD, Lab Associate Director
+420 224967701
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
Test additional service: Help
Custom mutation-specific/Carrier testing
Informed consent required: Help
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
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 2
Method Category Help
Test method Help
Enzyme assay
Enzyme activity
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3500xL capillary sequencing instrument
Clinical Information
Test purpose: Help
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Sanger sequencing will identify the missense and nonsense mutations, small deletions, small duplications and small insertions located in the analysed fragments. These variants are detected with 99,9% accuracy.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
European Molecular Genetics Quality Network, EMQN

Description of PT method: Help
DGKL-RfB: DNA sequencing - technical performance and medical interpretation, ERNDIM - enzyme
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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