*If prior authorization is not submitted, test may be delayed.
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.
This assay will not detect large deletions in the SLC7A7 gene or intronic mutations outside the region sequenced in the SLC7A7 gene.
- Lysinuric Protein Intolerance
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….
By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includes medical geneticist interpretation of results billed as a separate additional charge. This test is not available without interpretation.