How is 22q11.2 Deletion Syndrome diagnosed?

Disclaimer: The following information pages are provided for educational purposes only. They are not intended to be taken as medical advice. If you have questions or concerns, please discuss them with your doctor or healthcare provider.

How does the doctor determine whether an individual has 22q11.2DS?

  • When medical professionals recognize common features of 22q11.2DS, they may ask for genetic testing to confirm their suspected diagnosis.
  • Sometimes family members suspect there may be an undiagnosed condition, in which case they should speak to a medical profession about their concerns.
  • Often individuals are referred to doctors by occupational therapists, behavioural therapists, social workers and speech language pathologists because from their experience, they may have similar concerns
  • If a doctor feels an individual should have genetic testing, he/she will send bloodwork to a lab for a microarray analysis

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My test result came back positive—what does this mean?

A positive test result means that you have a 22q11.2 deletion in your 22nd chromosome. The doctor may recommend:

  • That the patient’s parents be tested to see if either of them have a 22q11.2 deletion.
    • If yes, the patient has inherited this deletion from the affected parent. The patient’s siblings as well, since they too have a 50% risk of inheriting the deletion.
    • If no, the patient’s deletion is random rather than inherited. The doctor may recommend that siblings be tested even though it is unlikely that they will have 22q11.2DS. Their chance would be the same as that of the general population.
  • If the patient has children, they should also be tested.

Flow chart: Recommended plan for genetic testing for family members of individuals with 22q11.2 deletions

Recommended plan for genetic testing for family members of individuals with 22q11.2 deletions

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I have many symptoms of the 22q11.2 Deletion Syndrome, but my genetic test result came back negative—what does this mean?

  • Consult your doctor regarding your medical concerns.
  • Some patients who were tested with FISH years ago are now being tested again using the newer methods (microarray). Some of these patients have confirmed the presence of 22q11.2DS as a result.

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