28 days
Test Updated:
Lysinuric Protein Intolerance
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Test Overview
The coding exons and flanking splice sites of the SLC7A7 gene are amplified using specific primers, and bidirectionally sequenced using a fluorescent method.
Analysis for the presence of SLC7A7 mutations in patients with characteristics of Lysinuric Protein Intolerance (LPI). LPI is characterized by recurrent episodes of vomiting and diarrhea, mild hyperammonemia, stupor and coma after a protein-rich meal, poor feeding, aversion to protein-rich foods, failure to thrive, hepatomegaly, splenomegaly, and hypotonia. Long term characteristics include poor growth, osteoporosis, respiratory insufficiency, alveolar proteinosis, progressive glomerular disease, and proximal tubular disease. Treatment of LPI consists of protein-restricted diet and supplementation with oral citrulline.
Interpretive report provided.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
Specimen Requirements
Collect specimen in a lavender top tube. Send intact specimen to the lab within 24 hours. Include the patient's family history, pedigree, and ethnicity on the test requisition. Obtaining informed consent from the patient prior to genetic testing is strongly recommended. If desired, a UMHS Request and Consent for Genetic Testing form can be obtained by contacting the MMGL Molecular Genetics Laboratory at 615-2429 during business hours Monday - Friday or online at https://mlabs.umich.edu/sites/default/files/2020-01/file/pci-mmgl_infor….
Collect specimen in a lavender top tube. Send intact specimen within 24 hours if stored at room temperature or within 5 days if stored refrigerated. Include the patient's family history, pedigree, and ethnicity on the test requisition. Obtaining informed consent from the patient prior to genetic testing is strongly recommended. If desired, a UMHS Request and Consent for Genetic Testing form can be obtained from the MMGL Molecular Genetics Laboratory by contacting the MLabs Client Services Center at 800-862-7284 or online at https://mlabs.umich.edu/sites/default/files/2020-01/file/pci-mmgl_infor….
