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Kunkel Laboratory | How to enroll a patient

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:

Elicia Estrella, MS, CGC
Genetic Counselor & Research Studies Coordinator

Tel: 617-919-4552
Fax: 617-730-0253

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