Neurology Expert Forum
Batten disease (J NCL) carrier testing
About This Forum:

This forum is for questions and support regarding neurology issues such as: Alzheimer's Disease, ALS, Autism, Brain Cancer, Cerebral Palsy, Chronic Pain, Epilepsy, Fibromyalgia, Headaches, MS, Neuralgia, Neuropathy, Parkinson's Disease, RSD, Sleep Disorders, Stroke, Traumatic Brain Injury.

Font Size:
A
A
A
Background:
Blank
Blank
Blank
This expert forum is not accepting new questions. Please post your question in one of our medical support communities.
Blank Blank

Batten disease (J NCL) carrier testing


  Interested in the neuro-degenerative genetic Spielmeyer-Vogt-Sjogren-Batten disease.  Have learned that a test is available that will identify 73% of Batten disease (juvenile neuronal ceroid-lipofuscinosis) carriers by detecting a deletion of a gene on chromosome 16, CLN3.  I understand that mutants of this gene are not detectable using the current test.  What is the nature of the test?  [immunoassay? electrophoretic? HPLC? ??] What are the requirements for the specimen?  Post mortem testing possible?  If an affected individual were tested, could the current test distinguish whether both copies of chromosome 16 were in the detectable 73%?  Or would the test tell only that a detectable defect exists on at least one chromosome?  Do I need to contact an organization or doctor in Finland for the latest information?  If so, how?  I am already aware of the Batten Disease Support and Research Association www.bdsra.org>  
       Thank you for your service.   :-)  SS
=======================================================================================================================
Wish I could give you the answer to your question but it is too specific and I do not know the specifics of testing but I will provide you with some information to help:
National Batten Disease Registry
1050 Forest Hill Rd
Staten Island, NY, 10314-6399
800 952-9628
718 494 5201
***@****
They have information on genetic counseling and diagnostic testing




Related Discussions
Continue discussion Blank
Blank
Request an Appointment
MedHelp Health Answers
Blank
Weight Tracker
Weight Tracker
Start Tracking Now
RSS Expert Activity
233488_tn?1310696703
Blank
Marathon Running Done Over Many Yea...
May 21 by John C Hagan III, MD, FACS, FAAOBlank
233488_tn?1310696703
Blank
New Article on Multifocal IOL vs &q...
May 21 by John C Hagan III, MD, FACS, FAAOBlank
748543_tn?1371753642
Blank
TMJ/TMJ The Connection Between Teet...
Jan 27 by Hamidreza Nassery , DMD, FICOI, FAGDBlank