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Hydrops fetalis panel for lysosomal disorders
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 GTR000604131.1
NYS CLEP
INHERITED DISEASEMETABOLIC DISEASEMUSCULOSKELETAL ... View more
Registered in GTR: 2023-03-16
View version history
Last annual review date for the lab: 2024-07-30 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (23): Help
Infantile GM1 gangliosidosis; Free sialic acid storage disease; GM1 gangliosidosis more...
Analytes (1): Help
Sialic acid
Enzymes (5): Help
Beta-galactosidase; Beta-glucocerebrosidase; L-Iduronidase; Sphingomyelin phosphodiesterase; beta-Glucuronidase
Proteins (1): Help
Sialidase-1
Methods (1): Help
Biochemical Genetics - Enzyme assay: Enzyme activity
Target population: Help
Fetuses and infants with evidence of hydrops
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
NIHF panel
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 or cultured cells with clinical 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: 23
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 1
Analyte Associated Condition
Enzymes Help
Total enzymes: 5
Enzyme Associated Condition
Proteins Help
Total proteins: 1
Protein Associated Condition
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)
  • Al-Kouatly HB, Felder L, Makhamreh MM, Kass SL, Vora NL, Berghella V, Berger S, Wenger DA, Luzi P. Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study. Prenat Diagn. 2020;40(6):738-745. doi:10.1002/pd.5678. Epub 2020 Mar 20. PMID: 32134517.

Target population: Help
Fetuses and infants with evidence of hydrops
View citations (1)
  • Al-Kouatly HB, Felder L, Makhamreh MM, Kass SL, Vora NL, Berghella V, Berger S, Wenger DA, Luzi P. Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study. Prenat Diagn. 2020;40(6):738-745. doi:10.1002/pd.5678. Epub 2020 Mar 20. PMID: 32134517.
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
Enzyme assays on samples received
View citations (1)
  • Al-Kouatly HB, Felder L, Makhamreh MM, Kass SL, Vora NL, Berghella V, Berger S, Wenger DA, Luzi P. Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study. Prenat Diagn. 2020;40(6):738-745. doi:10.1002/pd.5678. Epub 2020 Mar 20. PMID: 32134517.
Test Comments: Help
Hydropic panel includes all the tests listed above.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Affected individuals have less than 10% of our normal mean.
View citations (1)
  • Al-Kouatly HB, Felder L, Makhamreh MM, Kass SL, Vora NL, Berghella V, Berger S, Wenger DA, Luzi P. Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study. Prenat Diagn. 2020;40(6):738-745. doi:10.1002/pd.5678. Epub 2020 Mar 20. PMID: 32134517.
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

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