Mucolipidoses II/IIIA
Mucolipidosis II (ML II), also known as I-Cell disease,
and Mucolipidosis IIIA (ML IIIA), also known as Pseudo-Hurler
Polydystrophy, are lysosomal storage disorders caused by a deficiency of
N-acetylglucosamine-1-phosphotransferase (NAPT). Individuals with ML II
or ML II/III have mutations in the GNPTAB gene, which has been localized
to 12q23.3. ML II is associated with a more severe course, with death
usually in childhood. ML II/ML III is associated with a milder course
with a wider spectrum of features and severity.
Sample requirements: 5
to 10 ml of peripheral blood collected in an EDTA (lavender top)
Vacutainer tube is preferred. The minimal blood needed for reliable DNA
isolation is 3 ml. If necessary, ACD solution A Vacutainer tubes (yellow
top) may be submitted. Please contact the laboratory for more
information.
Transport: All samples should be shipped at room
temperature and delivered via overnight courier. (FedEx is preferred.)
Do not freeze the specimen prior to transport. It is preferable
to ship samples early in the week for delivery Monday through Friday.
Please contact JoAnne Babb
or Mike Friez (1-800-473-9411) in the Molecular Diagnostic Laboratory
for details regarding transport.
Analysis standards: Testing will be completed within 6
weeks of sample receipt. The referring party will be contacted should
delays arise. Technical staff members assess the quality and
interpretation of all test results. Following an independent analysis of
results by the Director of the Laboratory, a hard copy report will be
issued. Verbal reports with consultation are available upon request by
the referring party.
Unknown mutation(s): CPT Codes: 83890, 83898 (x11),
83904 (x8), 83909 (x8), 83912
Known mutation(s): CPT Codes: 83890, 83898, 83904 (x2),
83909, 83912
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