My gene test results just came

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jethro

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Joined
Nov 2, 2017
Messages
426
Reason
PALS
Diagnosis
09/2017
Country
HR
State
Croatia
City
ZAGREB
tested 35 genes, 20 als and 15 als-like genes.
panel didnt contain
SIGMAR1
TBK1
C9ORF72
am i smarter? little bit. i am not sod1 so i have tdp43 accumulation. following genes were tested:
ALS2, ANG, ATL1, BSCL2, CHCHD10, CHMP2B, DCTN1, FIG4, FUS,
GBE1, GRN, HEXA, HNRNPA1*, HSPD1*, KIAA0196, KIF5A, MATR3*, OPTN, PFN1, PRF1, REEP1, SETX, SLC52A2, SLC52A3,
SOD1, SPAST, SPG11, SPG20, SQSTM1, TARDBP*, TIA1, TUBA4A, UBQLN2
no mutations found.
how many pals did such a test (average) and how many have mutations?
 

Nikki J

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Mar 22, 2012
Messages
10,859
Reason
PALS
Diagnosis
04/2014
Country
US
State
MA
City
Boston
I was initially tested for c9 which was known in my family. later as part of a study I had a panel of other mutations. All fine

when you say you have tdp43 accumulation that is not a test correct? I don’t think one exists for living PALS. You surmise it ( reasonably) because it is present in most if not all non sod1 ALS?
 

jethro

Distinguished member
Joined
Nov 2, 2017
Messages
426
Reason
PALS
Diagnosis
09/2017
Country
HR
State
Croatia
City
ZAGREB
test is ok, i concluded: tdp43 accumulation is found in all pals except sod1. the only thing to try get rid of it is Interm.fasting which is not completelly disfunctional, but it remains last bullet. also, i excluded all food with high GI index. seems that my new found diabetes has a same root. with als.
 
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