1) Obtain written informed consent
2) Locate specimens
To participate we will need:
- Blood samples from the affected participants and all available and consenting first-degree relatives.
- Unfixed, frozen muscle tissue, for the Neuromuscular Disorder studies only. Often, we can use tissue remaining from a surgical biopsy or autopsy. Alternatively, if a surgical procedure is planned for the near future, this may provide an opportunity to obtain a muscle specimen without additional risk or discomfort to the patient. If you are a physician or genetic counselor and would like instructions for submitting specimens, contact Elicia Estrella.
- Saliva samples can be obtained from unaffected family members if obtaining blood samples is too difficult.
- Urine sample, for the Interstitial Cystitis study only
3) Provide copies of relevant medical records
For further information, informed consent forms, or specimen shipment information, please contact: