The Dalglish Family 22q Clinic

• 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

See also:
Who should be screened for 22q
How to request genetic testing in Ontario
How is genetic testing for 22q done
Legal Protection For Individuals Who Have Medical Genetic Testing

A positive test result means that you have a 22q11.2 deletion in your 22^nd 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

• 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.