Patients living with: 17q12 deletion

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 70 Ages: <1 to 56

Male
61% Male
Female
36% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

33% 2 - 6 times a year
33% 7 - 11 times a year

Major episodes of care

been admitted to hospital
48% been admitted to hospital
been to the ER
30% been to the ER
had surgery
22% had surgery

A combination of treatments

image description
None 33% Over-the-counter supplements, vitamins, herbs, remedies 25% Prescription medication 25%

Getting diagnosed

Getting diagnosed

Initial symptoms

Initial Symptoms
  • Developmental delays
  • Behavior problems
  • Confusion

Average age at diagnosis

Average Age at Diagnosis
7 Year(s) old
<1 27
Youngest AGE RANGE Oldest

Extensive testing

  • Blood testsBlood tests
  • Genetic TestingGenetic Testing
  • Family historyFamily history
  • MRIMRI
  • Physical examinationPhysical examination

Different types of tests

Different Types of Tests
10

Diagnosing specialty

  • Genetics
  • Neurology
  • Gastroenterology

Patients everywhere are eager to help find better treatments

Better Treatments

86% want to be contacted about trials

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