GENETIC DIAGNOSTIC TESTS

INVITAE

- Comprehensive Carrier Screen includes up to 301 genes and is appropriate for those of all ethnicities who want an expanded assessment of their risk of having an affected child.

For details, visit:

    - https://www.invitae.com/en/physician/tests/60100/.

    - https://www.invitae.com/en/carrier-screening/.


- Family variant testing at no additional charge for all blood relatives of patients who undergo diagnostic or proactive panel or gene testing for a hereditary condition at Invitae and are found to have a pathogenic or likely pathogenic variant. Invitae family variant testing involves full analysis of the gene in which the original family member’s variant was identified.

For details, visit: https://www.invitae.com/en/family/.


- Invitae launched campaigns for specific genetic diseases: https://www.invitae.com/en/sponsored-testing/.

  


COLOR (be careful: Color doesn’t provide with raw data).

- Hereditary Cancer Test: a clinical-grade test, which focuses on thorough sequencing of genes to give you meaningful insights. For details, visit: https://www.color.com/learn/can-cancer-be-inherited.


- Inherited Heart Conditions: a clinical-grade test, which focuses on thorough sequencing of genes to give you meaningful insights.

For details, visit: https://www.color.com/learn/can-genetics-impact-heart-conditions.


- Medication Response: Color tests 14 genes associated with how the body processes certain commonly prescribed medications. For details, visit: https://www.color.com/learn/can-genetics-impact-medication-response.


The following companies have not yet responded to our requests for information:

   - GeneDx (mail sent on December 6, 2018);

   - Centogene (mail sent on December 6, 2018);

   - Counsyl (mail sent on December 6, 2018);

   - Mayo Clinic GeneGuide (mail sent on December 6, 2018);

   - PerkinElmer Genomics (mail sent on December 6, 2018).

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Patforgene helps and defends patients.

It does not receive money or contributions from pharmaceutical companies, doctors or consultants.

The reports of the sequencing companies and diagnostic genetic tests come from the experiences of our members or from research carried out on the Internet or from information requests about the sequencing services. Please share with us your experience.