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GTR Home > Tests > Hydrops fetalis panel for lysosomal disorders

Overview

Test name

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Hydrops fetalis panel for lysosomal disorders (NIHF panel)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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How to order

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Send blood or cultured cells with clinical information.
Order URL Help: http://www.tju.edu/lysolab

Specimen source

Amniocytes
Cord blood
Fetal blood
Fibroblasts
Peripheral (whole) blood
White blood cell prep
Specimen requirements: http://www.tju.edu/lysolab

Methodology

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Biochemical Genetics
EEnzyme assay
Enzyme activity

Summary of what is tested

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Clinical utility

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Establish or confirm diagnosis

Citations
  • Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study. - PubMed ID: 32134517

Clinical validity

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Not provided

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the 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.