I-cell Disease Test

Also known as: mucolipidosis II, ML II, Inclusion Cell Disease.

What is I-cell disease testing?

I-cell disease is a rare genetic disorder also known as mucolipidosis II (ML II). It causes symptoms such as skeletal abnormalities, rough facial features, mental disabilities, death usually occurs in childhood. Biochemical testing for I-cell disease involves the collection and analysis of plasma and urine. The activity of certain enzymes is increased when I-cell disease is present.

What happens during the procedure?

A routine blood draw and/or urine sample is required in order to begin I-cell disease testing. The blood and/or urine sample is then taken to a laboratory for further testing and analysis.

Is any special preparation needed?

In most cases, no special preparation is needed for the test.

What are the risk factors?

Infection, bleeding and damage to surrounding organs and tissues are potential risks of the blood draw that takes place prior to I-cell disease testing. No risk factors are associated with urine collection.

Reviewed by: Sajel L Kana, MD

This page was last updated on: April 22, 2021 03:14 PM

Clinical Genetics

Our clinical geneticists and genetic counselors at Nicklaus Children's Hospital evaluate children with developmental delays, unusual facial features, metabolic disorders, seizures, craniofacial anomalies and failure to thrive.

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