Re: Quantitative-PCR SMN1 Testing (SMA r Test)

[Guest guest]

My husband had the carrier testing done. It was done through OSU. If

I remember correctly all the paperwork and directions were sent to our

dr office. They just sent it to the labs to process. We did this for

our own personal family planning purposes, not for research.

>

> Hi! First of all - Happy 2008 for everbody! (Is it too late? )

>

> I'd like to know if anybody in the group had a " carrier test " done

and if yes, where?

> I have a SMA Type I daughter and therefore conclude my husband and I

are carriers however I also have an older brother who is willing to do

this test to know if he is or isn't a carrier. Morever and considering

my mother has 5 brothers and sisters and I have 16 cousins, my mother

also would like to know if she is a carrier so that we can advise this

side of the family.

>

> On FSMA site I only got reference from DNA diagnostic laboratory at

the Ohio State University and at the University of Pennsylvania but

would like to check if are there any other genetic testing labs that

have this " Quantitative-PCR SMN1 Testing " available and perhaps on a

more commercial basis (not as research).

>

> Thanks for any reply!

> Iz (mom to Catarina " KittyCat - 18 months - SMA I)

>

>

>

________________________________________________________________________________\

____

> Never miss a thing. Make your home page.

> http://www./r/hs

>

>

[Guest guest]

What is it that you are going to advise ur family about exsactly ?

Izabel Kropsch <ikropsch@...> wrote:

Hi! First of all - Happy 2008 for everbody! (Is it too late? )

I'd like to know if anybody in the group had a " carrier test " done and if yes,

where?

I have a SMA Type I daughter and therefore conclude my husband and I are

carriers however I also have an older brother who is willing to do this test to

know if he is or isn't a carrier. Morever and considering my mother has 5

brothers and sisters and I have 16 cousins, my mother also would like to know if

she is a carrier so that we can advise this side of the family.

On FSMA site I only got reference from DNA diagnostic laboratory at the Ohio

State University and at the University of Pennsylvania but would like to check

if are there any other genetic testing labs that have this " Quantitative-PCR

SMN1 Testing " available and perhaps on a more commercial basis (not as

research).

Thanks for any reply!

Iz (mom to Catarina " KittyCat - 18 months - SMA I)

__________________________________________________________

Never miss a thing. Make your home page.

http://www./r/hs

[Guest guest]

I imagine Izabel will be advising her family about how to get tested,

the percentages of possibly being a carrier whether or not they decide

to get tested, and resources and treatment options if anyone is

conceived and/or born with SMA. It'll be good information for everyone

to have so they can make informed decisions.

Someone in my family decided not to get themselves or their unaffected

children tested. They're waiting to let their children decide for

themselves if they want testing. Others did the testing. Whatever

people decide, it's great to have someone around who can provide

reliable information.

Alana

>

> What is it that you are going to advise ur family about exsactly ?

>

>

[Guest guest]

As Alana already explained - the idea is 1) let my 34 years old brother know if

he is a carrier so that if he is, he can access different options to minimize

the risk of having a SMA child and 2) if my mom is also a carrier, there is a

good probability of her siblings being carriers aswell so I guess it is

important to let my 16 cousins know the risks and have the opportunity of

deciding whether they want or not to be tested.

With such a big family on my mother side I'd guess I probably got the gene from

my father but you never can be sure if not tested.

Iz (mom to Catarina " KittyCat " - 18 months - SMA I)

Re: Quantitative-PCR SMN1 Testing (SMA r Test)

What is it that you are going to advise ur family about exsactly ?

Izabel Kropsch <ikropsch (DOT) com.br> wrote:

Hi! First of all - Happy 2008 for everbody! (Is it too late? )

I'd like to know if anybody in the group had a " carrier test " done and if yes,

where?

I have a SMA Type I daughter and therefore conclude my husband and I are

carriers however I also have an older brother who is willing to do this test to

know if he is or isn't a carrier. Morever and considering my mother has 5

brothers and sisters and I have 16 cousins, my mother also would like to know if

she is a carrier so that we can advise this side of the family.

On FSMA site I only got reference from DNA diagnostic laboratory at the Ohio

State University and at the University of Pennsylvania but would like to check

if are there any other genetic testing labs that have this " Quantitative- PCR

SMN1 Testing " available and perhaps on a more commercial basis (not as

research).

Thanks for any reply!

Iz (mom to Catarina " KittyCat - 18 months - SMA I)

____________ _________ _________ _________ _________ _________ _

Never miss a thing. Make your home page.

http://www.. com/r/hs