Gene testing

jethro

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hello, after intensive search, i found

Amyotrophic lateral sclerosis (ALS), NDD18 gene set, 23 genes - analysis price 1150 €



ALS2, ANG, CHCHD10, CHMP2B, DCTN1, FIG4, FUS, HNRNPA1, KIF5A, MATR3, OPTN, PFN1, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP. C9ORF72 repeat analysis.
fals or sals, i'm crazy about it. my both children were born after my onset.
will i be smarter?
 

Nikki J

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It doesn’t matter when the children were born. Your DNA has been your DNA since your conception. Most of us FALS were born when our parents were well. However if you can afford it that is a comprehensive panel for the currently known FALS mutations Good luck
 

jethro

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thanks nikki,
as far as i know, there are more than 35 genes (by now) involved in als and it counts. i think that EVERY sals has mutation in known&unknown genes. rate of progression depends on combination of altered genes. money is not a problem.
if my c9 is altered, it doesnt mean that i'm fals.
does base exists with such a tested pals? something like hawking's "data are here"?
 

Nikki J

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The thinking is that there are probably several genetic variants in SALS pals ( different ones in different people) that create a susceptibility to ALS that requires multiple triggers to activate and that other people with the same genetic makeup do’t get ALS because they don’t encounter the triggers. The FALS mutations only appear to need 2-4 triggers and they seem to be common life events since having the mutation usually leads to ALS.

are you asking if there is a biobank? There are a few big projects. In Europe there is project MinE you should talk to them
 

Srch

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Nikki, What are the likely common life events, ageing in one i think
 

Nikki J

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No one knows. Something in the process of aging is very likely. Studying genetic carriers is important to all PALS for many reasons and identifying triggers is one
 

Gorby

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Here's a paper that talks about the multistep process of ALS. It's a tough read, but I think is interesting.


I agree with Jethro that probably most SALS have a currently unknown mutation that puts them ahead a step or two in the 6-step process. Although I suppose it is possible to have no "bad genes" and have ALS triggered. Maybe a particularly toxic environment? According to the paper, if you have SOD1 you only need 2 additional steps to get the disease, corresponding with the high penetrance for that group.

For Jethro - if you want to play around with the science and have the skills, AnswerALS.org has posted ALS and nonALS genomes. Although I don't think there's any famous ALS'ers (like Hawking) in the database.
 

Nikki J

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The theory for so called SALS is not so much one big mutation like sod1 or c9 but probably a couple or more variants that need the 6 steps to activate Children of SALS may not inherit them all and may not get the triggers which is why their risk is only a little above the general population

genetic research is big there are several groups trying to do sequencing on as many PALS as possible
 

SpeedyMarie

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Hello, I was told by my ALS Team for my children unless they have symptoms while there is no cure for genetic ALS not to push testing. If a cure comes encourage testing. The dread of the disease can be hard on some it’s a personal choice
 

GXTrex

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@SpeedyMarie
Im sure Nikki will weigh in as she knows a lot more about me than this. The advantage of testing is you can prepare for the future, but make sure you have LTC or life insurance first. You also have a 50% chance of being negative.

Another big reason is for clinical trials. They need asymptomatic carriers to study to try to find biomarkers indicating when ALS will begin, and also to test potential treatments before ALS onset.
 

Nikki J

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As Gx says some people test because they want to plan.

if one is planning a family there is an actionable reason to know as there are ways to screen embryos if you do ivf.

also, as he notes, there are research opportunities for carriers and their help is desperately needed. There are also more limited opportunities for those at risk who do not want to know.

prevention trials will require knowing status . There is one about to start for sod1 but it will be very limited enrollment and super competitive.
 

jethro

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i search, search... i'm in a contact with finland's company who's panel includes following:
GeneAssociated phenotypesInheritanceClinVarHGMD
ALS2Amyotrophic lateral sclerosis, Spastic paralysisAR3368
ANGAmyotrophic lateral sclerosisAD837
ATL1Spastic paraplegia, Neuropathy, hereditary sensoryAD2984
BSCL2Lipodystrophy, congenital generalized, Encephalopathy, progressive, Neuropathy, distal hereditary motor, type VA, Charcot-Marie-Tooth disease type 2, Silver syndrome, Silver spastic paraplegia syndrome, Spastic paraplegia 17AD/AR3450
CHCHD10Myopathy, isolated mitochondrial, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Spinal muscular atrophy, Jokela typeAD426
CHMP2BAmyotrophic lateral sclerosis, CHMP2B-related, Frontotemporal dementiaAD621
DCTN1Perry syndrome, Neuropathy, distal hereditary motorAD1052
FIG4Amyotrophic lateral sclerosis, Polymicrogyria, bilateral occipital, Yunis-Varon syndrome, Charcot-Marie-Tooth diseaseAD/AR3469
FUSAmyotrophic lateral sclerosis, Essential tremorAD/AR22111
GBE1Glycogen storage diseaseAR3670
GRNFrontotemporal lobar degeneration with TDP43 inclusions, GRN-related, Neuronal ceroid lipofuscinosisAD/AR43214
HEXATay-Sachs disease, GM2-gangliosidosis, Hexosaminidase A deficiencyAR128194
HNRNPA1*Amyotrophic lateral sclerosis, Inclusion body myopathy with early-onset Paget diseaseAD2011
HSPD1*Spastic paraplegia, Leukodystrophy, hypomyelinatingAD/AR55
KIAA0196Spastic paraplegia, Ritscher-Schinzel syndrome (3C syndrome)AD/AR1518
KIF5ASpastic paraplegiaAD1862
MATR3*Amyotrophic lateral sclerosis 21AD416
OPTNGlaucoma, open angle, Glaucoma, normal tension, Amyotrophic lateral sclerosis 12AD1361
PFN1Amyotrophic lateral sclerosis 18AD58
PRF1Lymphoma, non-Hodgkin, Aplastic anemia, adult-onset, Hemophagocytic lymphohistiocytosisAR24183
REEP1Spastic paraplegia, Distal hereditary motor neuronopathyAD1660
SETXAtaxia with oculomotor apraxia, Amyotrophic lateral sclerosis, juvenile, Spinocerebellar ataxiaAD/AR36210
SLC52A2Brown-Vialetto-Van Laere syndromeAR2725
SLC52A3Fazio-Londe disease, Brown-Vialetto-Van Laere syndromeAR3042
SOD1Amyotrophic lateral sclerosis, KeratoconusAD/AR40215
SPASTSpastic paraplegiaAD193723
SPG11Spastic paraplegia, Amyotrophic lateral sclerosis, Charcot-Marie-Tooth diseaseAR162274
SPG20Spastic paraplegia (Troyer syndrome)AR97
SQSTM1Paget disease of bone, Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, Myopathy, distal, with rimmed vacuoles, Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onsetAD/AR1097
TARDBP*Amyotrophic lateral sclerosisAD2069
TIA1Welander distal myopathyAD113
TUBA4AAmyotrophic lateral sclerosis 22AD613
UBQLN2Amyotrophic lateral sclerosisXL531
VAPBAmyotrophic lateral sclerosis, Spinal muscular atrophy, late-onset, FinkelAD29
VCPAmyotrophic lateral sclerosis, Inclusion body myopathy with early-onset Paget disease, Charcot-Marie-Tooth diseaseAD1761
they claim:
  • This panel does not cover the expansion of a hexanucleotide repeat in a non-coding region of C9orf72.
Analysis methods


  • PLUS
Availability
4 weeks
Number of genes
35
Test code
NE2201
Panel size
Medium
CPT code *
81443(1)


Does it make any sence to go for that test? i have no familly data and trying to figure am i fals or not.
 

Nikki J

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There are a lot of non ALS tests on there. If you have your heart set on testing start with c9. If negative then see if those people have a more targeted test panel
 

jethro

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PALS
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09/2017
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ZAGREB
even they call it "medium" panel (600 eur), they dont seem to have a bigger one. i dont think that only one gen mutated, so maybe i'll take both (1200eur+600eur). these 35 genes - not all of them involved with als.
this panel doesnt include sigmar1 and c9orf72.
they do with a saliva sample.
 
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