Patients living with: 17q12 duplication

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 59 Ages: 1 to 56

61% Male
34% 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
had surgery
33% had surgery
been to the ER
25% been to the ER

A combination of treatments

image description
None 40% Prescription medication 40% 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
9 Year(s) old
<1 41
Youngest AGE RANGE Oldest

Extensive testing

  • Blood testsBlood tests
  • Genetic TestingGenetic Testing
  • Physical examinationPhysical examination
  • EEG (electroencephalogram, examines brain waves)EEG (electroencephalogram, examines brain waves)
  • Family historyFamily history

Different types of tests

Different Types of Tests

Diagnosing specialty

  • Genetics
  • Pediatrics
  • Neurology

Patients everywhere are eager to help find better treatments

Better Treatments

90% want to be contacted about trials

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