Single Site Analysis


Identify familial gene variations using sanger sequencing for single-site analysis.

single site analysis

Single site analysis, performed by Sanger sequencing, can help to confirm or identify genetic variants within families. This test targets specific genomic locations, providing insights at the single nucleotide level, into the presence of variants previously detected within a family. This targeted approach is particularly beneficial when investigating hereditary conditions or confirming suspected genetic disorders. By utilizing Single Variant Analysis by Sanger Sequencing, healthcare providers can confidently make informed decisions regarding patient care, enabling accurate diagnoses, guiding treatment strategies, and facilitating genetic counseling.

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Resources

Testing options

Postnatal single-site analysis
Single-site testing (includes known familial mutations) (per variant)
Test Code D0600
Turn Around Time 3 - 5 weeks
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STAT Single-site testing (includes known familial mutations) (per variant)
Test Code D0600F
Turn Around Time 2 - 3 weeks
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Targeted CNV Analysis
Test Code D0999
Turn Around Time 3 - 5 weeks
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Prenatal single-site analysis
STAT Prenatal Single-site testing (includes known familial mutations) (per variant)
Test Code D0600E
Turn Around Time 3 weeks
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Prenatal Targeted CNV Analysis
STAT Prenatal Targeted CNV Analysis
Test Code D0999E
Turn Around Time 3 weeks
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How to order

Step 1

Test selection and place order

Step 2

Specimen collection

Step 3

Sample shipment
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How to order

1. Choose your test

Select the correct test for your patient and download and fill out Targeted Testing requisition form.

  • Please make sure that all sections are completed, and that the patient has signed an informed consent form.
2. Collect a sample

Obtain a sample for testing from the patient using one of the provided Revvity Omics test packs. If you do not have a kit available in your office, please contact us here and we can have one sent out to your office.

  • Ensure that all samples are labeled with the patient’s name and date of birth.
3. Send a sample

Package the patient sample, informed consent form, and test requisition form back into the test kit, and utilize the included pre-paid shipping label to return the kit to Revvity Omics for processing.

  • As a patient’s clinical presentation is an essential part of fully interpreting genetic test results, we ask that you kindly include any applicable medical records or clinical notes with the sample at the time of test submission.
  • Please include a copy of proband report.
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This testing service has not been cleared or approved by the U.S. Food and Drug Administration. Testing services may not be licensed in accordance with the laws in all countries. The availability of specific test offerings is dependent upon laboratory location. The content on this page is provided for informational purposes only, not as medical advice. It is not intended to substitute the consultation, diagnosis, and/or treatment provided by a qualified licensed physician or other medical professionals.