Days Set Up
Monday - Friday
Analytic Time

28 days

MiChart Code
SLC7A7 Gene Sequencing
Soft Order Code
SLC7A

Test Updated:

Synonyms

Lysinuric Protein Intolerance

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Find a Requisition

All specimens should be accompanied by a requisition.

Submitting Specimens

Learn about how to properly label and where to ship specimens.

Order Kits and Supplies

MLabs provides all the supplies necessary for the collection of specimens.

Test FAQ

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Test Overview

Test Methodology

The coding exons and flanking splice sites of the SLC7A7 gene are amplified using specific primers, and bidirectionally sequenced using a fluorescent method.

Test Usage

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.

Reference Range

Interpretive report provided.

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Specimen Requirements

Collection Onsite

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….

Collection Offsite

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….

Lavender Top Tube
Normal Volume
5 mL EDTA whole blood
Minimum Volume
2 mL EDTA whole blood

Billing Information

CPT Code
81406
Pro Fee Code
 
LOINC
 

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Our High Standard

Quality that sets us apart

As the reference laboratory division of Michigan Medicine's Department of Pathology, MLabs shares the institution's commitment to applying established quality principles to clinical laboratory testing. Like other large organizations in complex, consequential fields, we rely on an established approach to monitor quality throughout the testing process.