2. Submission Requirements and Requesting a Kit

Welcome to the Family Portal for donating to the NIGMS Repository!

Submission Requirements- Who is eligible to donate?

1. An affected individual must have a diagnosed heritable disease or chromosomal abnormality
   • Unaffected family members (e.g. parents and siblings) may donate samples along with an affected individual
2. There must be clinical documentation of the disorder
   • The more clinical information that is submitted with a donation, the more valuable it will be to researchers
   • The most common documents are genetic testing results and physician summary letters
   • Unaffected family members do not need to submit medical documents, unless they share a common variant with the affected person that is relevant to the disorder
3. The NIGMS Repository accepts donations of blood samples, skin biopsies, and early passages of previously established cell lines

Types of Kits

Kit Type	Procedure	Cell types extracted from sample	Kit contents description
Blood sample	Blood draw may be collected at a previously scheduled doctor's appointment	B-lymphocyte cells, which are transformed into Lymphoblastoid Cell Lines (LCLs)	Blood kit contents
Biopsy sample	Skin punch may be collected at a previously scheduled surgery or dermatologist appointment What to expect: visual guide	Fibroblast cells, which are established as Fibroblast Cell Lines	Biopsy kit contents
Cell culture	Please email us at [email protected] if you or a researcher already has an early passage of an established cell line that you would like to donate to the Repository	Varies	Please email us at [email protected]  for more information

Requesting a Kit

If you have confirmed that you meet the submission requirements and are interested in receiving a kit to submit a blood or biopsy sample, please email the following information to [email protected]:

1. Contact information to receive the kit (mailing address and phone number)
   
2. Diagnosis of affected individual
3. Donor(s') information
   • Number of donors (the affected individual and any family members donating as well)
     
   • Sample type that each individual would like to donate (blood and/or skin biopsy)
   • Name and age of donor(s)

Please allow 1-2 weeks for the kit request to be processed and received. 

If you have any questions that are not answered in this Family Portal, please email us at [email protected]