Donate PTHS Samples

Coriell Institute

The NIGMS Repository at the Coriell Institute for Medical Research is accepting Pitt Hopkins Syndrome samples.

The NIGMS Repository is a research biobank. They collect samples from individuals with genetic diseases and make cell lines and DNA for scientists to use in their studies. They do not conduct research at Coriell, but do provide the materials for scientists to perform research on a variety of genetic diseases. They also do not provide sample donors with any results or information regarding their genetic disease.

You will find additional information about the process for submitting blood samples on their website: Information for Patients. Essentially it is a one-time sample donation and some paperwork (informed consent, a submission form, and a clinical data summary to be completed for each sample donor). Please enclose copies of any records you have that relate to your child’s diagnosis – genetic test results, physician summary letters etc., as the more detail we have the more helpful the samples are to researchers. We also welcome samples from both biological parents even if they are unaffected.

Contact for Questions

NIGMS Repository Team
Coriell Institute for Medical Research
403 Haddon Avenue
Camden, NJ 08103

 856-536-3170 in the United States

856-757-4848 from other countries

nigms@coriell.org

Instructions

Please send a message to this email: nigms@coriell.org with your address if you are interested in pursuing a sample donation and they will ship a kit out to you.

Each kit includes:

  • Two blood tubes
  • NIGMS Submission Form
  • NIGMS Informed Consent Form
  • General CDE Form
  • Packing materials and return FedEx waybill

Blood should generally be drawn early in the week (Monday to Wednesday for overseas submissions). They cannot provide you with a script for the blood draw at a blood draw center (for example Quest, LabCorp, etc), because this is for a research biobank and not clinical care. Most patients are successful bringing the kit along to an appointment and asking for the additional tubes to be collected for research. Most academic medical centers are familiar with Coriell or are used to requests to draw blood for similar things.

Blood must be kept at room temperature after collection and during shipment. Required forms will be sent to you in the collection kits. You would include all completed forms in the box when you send the samples back and also enclose any copies of relevant medical records. Please note that your samples will be de-identified upon arrival to their facility – they will be assigned a unique coded ID and your personal information (ex. your name, address, date of birth, etc) will not be associated with your sample.

After the blood collection, the kits should be packaged as soon as possible that day according to the instructions included in the box, and mailed overnight to us via FedEx. There is no charge to you as they provide a prepaid FedEx waybill in the kit.

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