BPAN DIAGNOSIS: YOUR TEST RESULTS

THE IMPORTANCE OF A GENETIC COUNSELOR:

Genetic counselors are healthcare professionals who play a critical role interpreting often complex genetic test results and can be an invaluable asset to any patient's medical team. Knowing the role that genetics play in a trajectory of a medical condition, breaking down scientific terminology into simple, more digestible, understandable terms, and helping to provide direction regarding a patient's potential treatment plan are but a few of the benefits of working with a Genetic Counselor familiar with BPAN. They are an important part of a healthcare team, oftentimes helping to bridge the gap between science and patient and may even serve as a patient advocate by coordinating services between multi-disciplinary teams and medical specialties.

Upon receiving your genetic test result (or after receiving a BPAN diagnosis), the role of the a qualified genetic counselor may be crucial to help you understand the specific mutation that your child may carry within their WDR45 gene. As there are still very few documented cases of BPAN worldwide, many WDR45 mutations are novel, never having been identified before. In the case that your child or loved one has been diagnosed with a known WDR45 mutation, it may be possible for you to connect with the family of the other affected BPAN patient. A genetic counselor may be able to facilitate further investigation of your test results and provide you much needed next steps. 

NBIA Research Facility:

 

Oregon Health and Science University

NBIA Center For Excellence

Certified Genetic Counselor
Allison Gregory, MS, CGC

Certified Genetic Counselor
Puneet Rai, MS, CGC

BPAN DIAGNOSIS