Testing Options
Testing for GACI, ARHR2, and ENPP1 and ABCC6 Deficiency
Understanding and accessing the appropriate testing is an essential first step in diagnosing Generalized Arterial Calcification of Infancy (GACI), Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2), and conditions related to ENPP1 and ABCC6 Deficiency. These disorders are rare, and many families are unfamiliar with where to begin the diagnostic process. This page provides an overview of available testing pathways and the resources that Brighter Hope Foundation offers to support families and clinicians seeking accurate evaluation and diagnosis.
Overview of Genetic Testing
GACI Types 1 and 2, ARHR2, and ENPP1- or ABCC6-related conditions are diagnosed primarily through genetic testing. These tests identify disease causing variants in the ENPP1 or ABCC6 genes, which allows clinicians to distinguish between the related conditions and determine the underlying cause of symptoms.
Genetic testing plays an important role in:
- Confirming or ruling out GACI or ARHR2
- Differentiating ENPP1-related disease from ABCC6-related disease
- Understanding inheritance patterns for family planning
- Guiding appropriate clinical management and monitoring
- Providing families with accurate information about prognosis and long-term care considerations
Because the clinical features of these conditions can overlap with other metabolic and skeletal disorders, genetic confirmation is often necessary for a definitive diagnosis.
Where Testing Is Performed
Brighter Hope Foundation does not conduct testing but provides information to help families understand where testing may be available. Testing for ENPP1 and ABCC6 variants is offered through many certified clinical genetics laboratories and healthcare systems worldwide. Testing is typically ordered by a:
- Clinical geneticist
- Metabolic bone specialist
- Cardiologist familiar with calcification disorders
- Pediatric specialist with experience in rare or inherited conditions
Testing may be available as a single-gene test, part of a multi-gene panel, or through whole exome or genome sequencing, depending on the provider’s recommendation and the clinical presentation of the patient.
Healthcare providers remain responsible for ordering the appropriate test, collecting samples, and interpreting results in the context of clinical findings.
How Brighter Hope Foundation Supports Families Seeking Testing
Brighter Hope Foundation helps families navigate the testing process by offering access to information, support, and community connections. Resources include:
Educational Information
The website provides detailed explanations of GACI, ARHR2, ENPP1 Deficiency, and ABCC6 Deficiency, including what genetic testing involves, typical diagnostic pathways, and what families may expect throughout the process.
Guidance on Identifying Specialists
While Brighter Hope Foundation does not refer families to specific laboratories or hospitals, we outline the types of specialists who commonly manage these conditions and who are most equipped to order and interpret appropriate genetic tests.
Insight from Our Medical Advisory Board
Brighter Hope Foundation is supported by a distinguished Medical Advisory Board of clinicians and researchers experienced in ENPP1- and ABCC6-related disorders. While they do not provide individual medical advice, their expertise informs the accuracy of our educational materials and ensures that families and providers have access to up-to-date, reliable information.
Learn more about the Board here: https://brighterhopefoundation.org/about-us/medical-advisory-board/
Supportive Community Resources
Families can connect with others who have undergone similar testing experiences. Our community forums and social platforms provide a supportive space to ask questions, share experiences, and learn from others navigating GACI, ARHR2, and ENPP1/ABCC6-related conditions.
Information for Healthcare Professionals
Clinicians can access papers and publications to support the evaluation and management of patients with suspected ENPP1- or ABCC6-related disorders.
Get Support
For additional support or help navigating available testing information, please contact Brighter Hope Foundation. We are here to provide guidance and connect you with trusted educational resources.
