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Lysosomal diseases panel
Clinical Genetic Test
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offered by
Lysosomal Diseases Testing Laboratory
View lab's test page
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GTR Test Accession: Help GTR000604130.3
NYS CLEP
INHERITED DISEASEMETABOLIC DISEASEOPHTHALMOLOGY ... View more
Last updated in GTR: 2024-04-19
View version history
Last annual review date for the lab: 2024-07-30 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (58): Help
Disorder of lysosomal-related organelles; Adult Krabbe disease; Alpha mannosidosis type II more...
Enzymes (17): Help
Acid sphingomyelinase; Alpha-N-acetylglucosaminidase; Alpha-galactosidase; Beta-galactosidase; Beta-glucocerebrosidase more...
Genes (1): Help
Sialidase ()
Methods (1): Help
Biochemical Genetics - Enzyme assay: Enzyme activity
Target population: Help
Individuals of any age with neurological symptoms, hepatosplenomegaly, white matter …
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Lysosomal Diseases Testing Laboratory
View lab's website
View lab's test page
Test short name: Help
LSD testing
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
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
Send blood sample with clinical information. See website for more information.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, Lab contact for this test, Test strategy
Conditions Help
Total conditions: 58
Condition/Phenotype Identifier
Test Targets
Enzymes Help
Total enzymes: 17
Enzyme Associated Condition
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Enzyme assay
Enzyme activity
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Wenger DA, Luzi P. The Lysosomal Diseases Testing Laboratory: A review of the past 47 years. JIMD Rep. 2020;54(1):61-67. doi:10.1002/jmd2.12117. Epub 2020 Apr 04. PMID: 32685352.

Target population: Help
Individuals of any age with neurological symptoms, hepatosplenomegaly, white matter changes, developmental delay, coarse facial features
View citations (1)
  • Wenger DA, Luzi P. The Lysosomal Diseases Testing Laboratory: A review of the past 47 years. JIMD Rep. 2020;54(1):61-67. doi:10.1002/jmd2.12117. Epub 2020 Apr 04. PMID: 32685352.
Recommended fields not provided:
Clinical validity, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
Most testing done using leukocytes/plasma isolated from whole blood. Some tests are performed with urine.
View citations (1)
  • Wenger DA, Williams C: Screening for lysosomal disorders. In Techniques in Diagnostic Human Biochemical Genetics. A Laboratory Manual, Hommes FA (ed). Wiley-Liss, New York, 1991, pp 587-617.
Test Comments: Help
The selection of tests to be run is based on clinical information provided with the sample and suggestions from the healthcare provider. Not all tests will be run on each sample received.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Affected individuals have enzymatic values less than 10% of the normal mean. Control samples are always assayed at the same time.
View citations (2)
  • Wenger DA, Luzi P. The Lysosomal Diseases Testing Laboratory: A review of the past 47 years. JIMD Rep. 2020;54(1):61-67. doi:10.1002/jmd2.12117. Epub 2020 Apr 04. PMID: 32685352.
  • Wenger DA, Williams C: Screening for lysosomal disorders. In Techniques in Diagnostic Human Biochemical Genetics. A Laboratory Manual, Hommes FA (ed). Wiley-Liss, New York, 1991, pp 587-617.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Alternative Assessment
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
NYS CLEP Approval: Help
Number: 8277
Status: Approved
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.