Genetic and specialty testing programs for bone, connective tissue, and skeletal conditions
Musculoskeletal conditions+Skeletal includes sponsored testing programs that provide no-cost or low-cost access to genetic and specialty testing for skeletal dysplasias, connective tissue disorders, metabolic bone diseases, and other hereditary or structural bone conditions. These programs help identify underlying genetic causes of bone and connective tissue abnormalities, support accurate diagnosis and management, and connect patients and clinicians with sponsored testing options focused on skeletal health.
7 programs found in Musculoskeletal
This Inozyme Pharma–sponsored program offers no-cost testing for ENPP1 and ABCC6, genes associated with GACI type 1 and later manifestations such as ARHR2 or PXE. Genetic confirmation supports diagnosis, management decisions, and assessment of family risk.
Decode Duchenne provides sponsored, no-cost diagnostic testing for suspected Duchenne/Becker muscular dystrophy in patients residing in the U.S. or Canada. The program is administered with Parent Project Muscular Dystrophy and performed by Revvity Omics; industry partners (e.g., Sarepta and others) provide support. Order per clinical presentation; genetic counseling resources are available.
The Discover Dysplasias™ program provides sponsored genetic testing and counseling for patients 16 years or younger with suspected skeletal dysplasia. Given the strong genetic basis of most dysplasias, this no-charge panel helps shorten the path to diagnosis by detecting many of the most frequent genetic contributors. Faster confirmation may support earlier, disease-specific evaluation and management planning.
Sponsored by Biogen, this program offers no-cost genetic testing for Friedreich ataxia (FA) to support diagnosis and evaluation of patients with suspected or confirmed FA. Testing is available for individuals ≥16 years residing in the U.S. or Puerto Rico and must be ordered by a qualified provider.
This program offers no-charge genetic testing and counseling for patients in the US and Canada who may have XLH or TIO and meet age and eligibility criteria. It aims to improve diagnostic accuracy, reduce time to confirmation, and support payer coverage needs. No patients, providers, or payers are billed, and program use does not require recommending or prescribing any Kyowa Kirin therapy.
Sponsored by Inozyme Pharma, this program offers global, no-cost genetic testing for the ABCC6 gene linked to PXE. Testing is available for patients who meet program eligibility criteria and must be ordered by a qualified health care provider.
Roadmap2Rare (Canada) provides complimentary genetic and biochemical testing for suspected rare diseases, delivered by Revvity Omics in collaboration with Sanofi Canada. The program is designed to address unmet testing needs and is available to Canadian clinicians. Test selection and treatment decisions remain at the discretion of the healthcare professional.
