Patients living with: 17q12 duplication

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 165 Ages: 1 to >60

Male
59% Male
Female
36% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

38% 2 - 6 times a year
15% Do not see a doctor or healthcare provider for this condition

Major episodes of care

been admitted to hospital
42% been admitted to hospital
been to the ER
30% been to the ER
had surgery
27% had surgery

A combination of treatments

image description
Prescription medication 38% None 35% Special diet/nutrition 13%

Getting diagnosed

Getting diagnosed

Initial symptoms

Initial Symptoms
  • Developmental delays
  • Behavior problems
  • Growth delay

Average age at diagnosis

Average Age at Diagnosis
8 Year(s) old
<1 41
Youngest AGE RANGE Oldest

Extensive testing

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

Different types of tests

Different Types of Tests
13

Diagnosing specialty

  • Genetics
  • Pediatrics
  • Neurology

Patients everywhere are eager to help find better treatments

Better Treatments

89% want to be contacted about trials

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