Testing for ALS (?)

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jethro

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PALS
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HR
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friend of mine, older 10 years, diagnosed is with neuralgic amiotrophy (complete different diagnose, even has it almost the same symptoms). doesn't know what to do with money, so just called her doctor and not knowing what she asks, she asked: "please how can i test for that disease...hm... als? money doesnt mater".
doctor wrote:
give blood sample, pay 1500 usd (app), we will send it for a testing. you'll get results in a 40 days.
we wil test:

“Amyotrophic lateral sclerosis (panel) by Next-generation sequencing (NGS) technology:

Investigated Genes: ALS2, ANG, CHMP2B, DCTN1, ERBB4, FIG4, FUS, MATR3, NEFH, OPTN, PFN1, PRPH, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, UBQLN2, VAPB,VCP

Sample: EDTA Blood”

does it work? she chosen expensive hospital.

she ask me to "look on google".
all i found (similar) was:

https://www.centogene.com/science/centopedia/ngs-panel-genetic-testing-for-amyotrophic-lateral-sclerosis-als.html

any guru wants to help?
 

Nikki J

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Those are the known FALS mutations. Testing negative does not rule out ALS. It doesn’t even rule out FALS as 30 percent of PALS with very clear autosomal dominant inheritance pattern test negative. Nor does a positive test give you an ALS diagnosis. There are many asymptomatic carriers. There are also documented carriers with neurologic signs and symptoms that do not have an ALS diagnosis

I fail to see any benefit to her at all
 

lgelb

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Agreed, she'd be wasting her money. Tell her to hold on to it against future expenses for caregiving, equipment and home adaptations.
 
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