Summary
- Negative result. No Pathogenic sequence variants or deletions/duplications identified.
Name Norma Bates | DOB 07.30.1980 |
Name Norma Bates | DOB 07.30.1980 |
Patient Name Norma Bates | DOB 07.30.1980 | Sex Female | MRN 12344321 | Invitae # RQ654845 |
Clinical Team Festus Ezeli | Report Date 03.20.2019 | Sample Type Saliva | Sample Collection Date 03.06.2019 | Sample Accession Date 03.08.2019 |
Test Performed Sequence analysis and deletion/duplication testing of the gene listed in the results section below. | Reason for Testing Family history |
Gene | Variant | Zygosity | Classification | Result | |
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PRRT2 | c.115G>A (p.Ala39Thr) | heterozygous | Likely Benign | Detected | |
The table above reflects the information for the requested variant(s) based on the date this report was issued. |
Summary
Clinical Summary
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Report Riders
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Complete Results The following genes were evaluated for sequence changes and exonic deletions/duplications:PRRT2Results are negative unless otherwise indicated Benign and Likely Benign variants are not included in this report but are available upon request. An asterisk (*) indicates that this gene has a limitation. Please see the Limitations section for details. | |
Methods |
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Limitations |
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This report has been reviewed and approved by: |
UNSIGNED Nobody |
Disclaimer | DNA studies do not constitute a definitive test for the selected condition(s) in all individuals. It should be realized that there are possible sources of error. Errors can result from trace contamination, rare technical errors, rare genetic variants that interfere with analysis, recent scientific developments, and alternative classification systems. This test should be one of many aspects used by the healthcare provider to help with a diagnosis and treatment plan, but it is not a diagnosis itself. This test was developed and its performance characteristics determined by Invitae. It has not been cleared or approved by the FDA. The laboratory is regulated under the Clinical Laboratory Improvement Act (CLIA) as qualified to perform high-complexity clinical tests (CLIA ID: 05D2040778). This test is used for clinical purposes. It should not be regarded as investigational or for research. |