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Collecting DNA

 

We normally collect DNA from all available members of the immediate family-all children (affected as well as unaffected) and their parents.  We prefer to receive isolated DNA, however, in consanguineous cases only, if your facility cannot do this, we can isolate DNA from blood samples (see details below).

 

Blood Samples for DNA Isolation:

1.   Have one 10 ml green top tube drawn from all children (affected as well as unaffected) and their parents. The tubes should be inverted (not shaken) and left at ROOM TEMPERATURE.

 

2.   Label each tube with the full name and date of birth immediately to avoid confusing the samples.

 

3.   Federal Express Priority / International Priority (or the fastest available shipping method) to send samples to the address below.  You are welcome to charge shipping costs to the lab FedEx account-contact us for account details.

 

Send tubes to:

Dominika Swistun

Gleeson Lab--Neurosciences Department

UCSD School of Medicine

9500 Gilman Drive, Leichtag 332 Bay GG

La Jolla, CA 92093-0691

US

858-822-3786

 

4. Please send the package the same day the blood is drawn. If possible, please draw the blood early in the week so it does not reach us during the weekend.  Please call (858-822-3786) or email (gleesonlab@ucsd.edu) when you send the blood so we will know to expect the specimens.

 

In consanguineous cases, at your request, the lab will send you a kit with appropriate tubes for blood drawing as well as consent forms, instructions, and return materials.

 

v    Call for Patients with Joubert syndrome

v    Study Forms (consents and questionnaire)

v    Establishing Cell Lines