How Do I Get Help Using Chromosomal Microarray?

How can genetics specialists help?

  • Explaining genetics concepts to patients
  • Ordering and interpreting genetic tests
  • Teaching your staff how to send samples and fill out unfamiliar forms
  • Addressing patient/family psychosocial issues that can arise from genetic concerns

How do I know when to refer?

  • You don’t feel confident you can rule out a specific syndrome that indicates targeted genetic testing instead of CMA
  • You are uncertain if the benefits outweigh risks/costs for a particular indication
  • You aren’t sure that a diagnosis would change your management
  • The patient/family is undecided about doing testing and would benefit from further discussion and exploration.
  • Patient/family expectations or motivations for testing are unrealistic or inappropriate

Types of collaborators

  • Clinical Geneticist (MD or OD)
  • Medical Geneticist (PhD)
  • Genetic Counselor
  • Clinical Cytogeneticist
  • Clinical Biochemical Geneticist
  • Clinical Molecular Geneticist
  • Genetic Nurse (Basic Level)
  • Genetics Advance Practice Nurse

Finding collaborators

Laboratory Help

Many CMA labs have staff specifically trained to answer your questions about:

  • The likelihood of a diagnosis given your patient’s features
  • Findings that suggest a different test would be better
  • Potential risks and benefits for specific patient populations
  • Test cost, insurance issues, required forms, samples and turn-around
  • Potential interpretation and clinical uses of results

A CMA testing lab may be within your institution, or samples may be sent to a specialty lab through a referral service.  Find out who is doing the actual analysis, and when possible, contact their client services directly. Labs that perform CMA testing may also be found through the Genetic Testing Registry.

Clinical Help

Genetic counselors, clinical geneticists, and nurse specialists in genetics can assist with:

  • Identifying rare genetic syndromes based on clinical findings and family history
  • Verifying and appealing insurance decisions, ordering testing and interpreting results
  • Explaining genetic information to patients/families in lay terms
  • Discussing benefits and risks in a patient/family centered way
  • Exploring family motivations, setting realistic expectations, and addressing psychosocial concerns

They may be available in your institution or you may need to contact someone elsewhere. You can find genetics specials through the American Board of Medical Genetics Directory.