Re: richards carrier status

[Guest guest]

I don't get it. Why would the genetics counselor recommend retesting

by sweat test to confirm carrier status?

How can they tell carrier status by sweat test levels? This is news to

me.

Have they sent a sample from to Ambry for testing to see if

Ambry can identify the mutations?

Kim

> When we went to clinic a few weeks ago they told me they had

documentation stating that was not a carrier, when for years

we were told that he was. So today I called the genetics counselor

who sent the original letter back in 1995 saying he was a carrier.

She confirmed that the linkage analysis did indeed read that he was a

carrier, BUT that the test is 98% not 100% like I thought. she

suggested we get him sweat tested again. Has anyone else used this DNA

linkage? s mutation is still unidentified, so this is how we

decided that did not have cf. His sweat test at the age of 3

was 38 and 42. Any thoughts?

- Sally -

Mom of

Bri 14 JV All star amazing best cheerleader

12w/asthma

9w/cf & ds

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[Guest guest]

I don't know what dna linkage is, but sweat chloride readings between

40 and 60 are considered to be borderline, so it probably would be a

good idea to have the sweat test repeated. It doesn't sound like the

genetics counselor is looking for carrier status though, it sounds

like she still wants to rule out cf. The sweat test (as far as I

know) cannot possibly determine carrier status, as carriers have

normal sweat chloride levels.

~

mommy of 3, 1 with cf

she suggested we get him sweat tested again. Has

> anyone else used this DNA linkage? s mutation is still

unidentified,

> so this is how we decided that did not have cf. His sweat

test at

> the age of 3 was 38 and 42. Any thoughts?

>

[Guest guest]

In a message dated 2/3/03 8:45:41 PM Eastern Standard Time,

kimpayne@... writes:

> I don't get it. Why would the genetics counselor recommend retesting

> by sweat test to confirm carrier status?

>

> Kim:

Sorry, I guess thats the way my post sounded. I do know the sweat test is

only for dxing cf. That is what they all have been saying, that he has so

many symptoms of cf they can't believe he was only a carrier. But now they

say the linkage is 98% - so should they sweat test him again to make sure

he doesn't truly have cf.

And no they have not sent a sample to Ambry...I have never even heard of

Ambry. Her Doc says that identifying her mutation is not necessary.

- Sally -

Mom of

Bri 14 JV All star amazing best cheerleader

12w/asthma

9w/cf & ds