digest/DNA testing; A waiting game

[Guest guest]

The DNA test is taking about 8 weeks to get results;

to my knowledge, Athena

Labs in land is only lab who has a patent to do

the testing. . so I'm

sure they have a back log of testing to do . . . this

is due to the detail

it takes to study each little section of DNA

chromosomes. . . and then the

genes wihtin that chromosome. . in a person where

they know the type in the

family it won't take as long. . for they know the

general area where to

look; but in a perosn where they are trying to

determine if it is one of

four types . . . ( and now I beleive they are doing a

type 2 test too) then

it would take considerable time. . . this is a very

detailed map of what

we are. . it shows the characteristics of each part of

our body and the

cells it makes up in each part.

I takes very specialized handling, very careful study

and experienced people

to do it. I've been told it may take a whole week

just to study part of one

section on one chromosome. I've been frustrated,

playing the wating game for

results too, for my first DNA test was to be sent off

in October 97 from

Mayo clinic. By mistake, it was never sent and I

wasn't notified. When I

started searching and questioning why I hadn't gotten

result and my doctor

hadn't been notified, to find out results found out

then it had never taken

place after them taking several vials of blood (I'm

severely anemic) and

wondering what did they do with it?

Mayo made good on it, though my insurance had run out,

they took care of the

cost to furnish me with DNA test, sent a kit to my

local GP; they sent off I

waited again, and find out they didn't have enough

blood to complete the

results . . . so they sent another kit took my blood

and I waited again.

..another two months. . finally three years and

several months later I get

final results of I have CMT1X and suspect to inherited

from my father. .

which was suspected all along but I do have

confirmation it is CMT and I do

have my type.

For me it was worth the wait and the fact they paid

and I couldn't afford to

do it. I now have some confirmed records for my

children, didn't ahve ot put

them thorugh EMG/NVC testing but could just do a blood

draw and know where

to look for it ;and now in process of having my son

tested again, for his

first one didn't come out complete. . due to not

enough blood to complete.

Youngest daughter is confirmed to have it also; and

oldest duaghter is being

checked to see if she is a carrier,( no symptoms at

age 22) may have passed

it to her daughter age 4 yrs, and whether she needs to

be concerned about

having other children and may pass it on.

So, with myself haivng gone through necessary testing

to lay a history, I

have saved them allot of going through all that . . .

I had to start from

scratch for no one in my family had any history or

known symptoms or

diagnosis.

I recommend making sure you keep a copy on hand of

your results to furnish

doctors and other necessary people with info on your

condition. My oldest

daughter's new husband is in military; they are paying

to have her tested

for being a carrier. . but they needed confirmation

( of my CMT1X) to

request the testing and the insurance to pay. I was

fortunate to be able to

Fax them that information immediately without waiting

to get it from Doc.

Anyway, even though it takes while I am very glad they

do take the time to

really study and get results correct. It is worth it

in the end. I do find

they don't necessarily contact you though when those

results are complete

so I would give them a month; check on it and keep

checking , ask when to

expect them and then request a copy to be sent to you.

When my son's came

back, they were inconclusive but no one notified me;

(MDA) I waited the

normal time (two months) before checking and they knew

before that and I

could have taken him back sooner to draw blood to redo

if I'd known but no

one called me. So, don't assume they will call you . .

..

Good luck; Libby

=====

" I THANK GOD FOR MY HANDICAPS, FOR, THROUGH THEM, I HAVE FOUND MYSELF, MY WORK,

AND MY GOD. " - Helen Keller

" TO MAKE A FRIEND TAKES BUT A MOMENT. . . TO BE A FRIEND TAKES A LIFETIME "

" FRIENDS ARE LIKE PILLARS; SOMETMES THEY LEAN ON YOU; SOMETIMES THEY HOLD YOU

UP! "

LIBBY'S HOMEPAGE www.geocities.com/charcot_marie_tooth

(^-*) (CM)LIBBY IN ARKANSAS

__________________________________________________

[Guest guest]

Libby,

Lamar here,

have no fear about the quantity of blood taken being a problem with anemia. I

know the tubes look HUGE, but they actually contain very little. The large

tubes will usually hold 5 cc, which is 1 teaspoon. The small ones only hold

3cc. Therefore 3 large tubes is only a tablespoon of blood. It is not enough

to make a difference in a severely anemic person.

----- Original Message -----

From: Libby Bond

egroups

Sent: Wednesday, December 13, 2000 01:22 PM

Subject: [] digest/DNA testing; A waiting game

The DNA test is taking about 8 weeks to get results;

to my knowledge, Athena

Labs in land is only lab who has a patent to do

the testing. . so I'm

sure they have a back log of testing to do . . . this

is due to the detail

it takes to study each little section of DNA

chromosomes. . . and then the

genes wihtin that chromosome. . in a person where

they know the type in the

family it won't take as long. . for they know the

general area where to

look; but in a perosn where they are trying to

determine if it is one of

four types . . . ( and now I beleive they are doing a

type 2 test too) then

it would take considerable time. . . this is a very

detailed map of what

we are. . it shows the characteristics of each part of

our body and the

cells it makes up in each part.

I takes very specialized handling, very careful study

and experienced people

to do it. I've been told it may take a whole week

just to study part of one

section on one chromosome. I've been frustrated,

playing the wating game for

results too, for my first DNA test was to be sent off

in October 97 from

Mayo clinic. By mistake, it was never sent and I

wasn't notified. When I

started searching and questioning why I hadn't gotten

result and my doctor

hadn't been notified, to find out results found out

then it had never taken

place after them taking several vials of blood (I'm

severely anemic) and

wondering what did they do with it?

Mayo made good on it, though my insurance had run out,

they took care of the

cost to furnish me with DNA test, sent a kit to my

local GP; they sent off I

waited again, and find out they didn't have enough

blood to complete the

results . . . so they sent another kit took my blood

and I waited again.

.another two months. . finally three years and

several months later I get

final results of I have CMT1X and suspect to inherited

from my father. .

which was suspected all along but I do have

confirmation it is CMT and I do

have my type.

For me it was worth the wait and the fact they paid

and I couldn't afford to

do it. I now have some confirmed records for my

children, didn't ahve ot put

them thorugh EMG/NVC testing but could just do a blood

draw and know where

to look for it ;and now in process of having my son

tested again, for his

first one didn't come out complete. . due to not

enough blood to complete.

Youngest daughter is confirmed to have it also; and

oldest duaghter is being

checked to see if she is a carrier,( no symptoms at

age 22) may have passed

it to her daughter age 4 yrs, and whether she needs to

be concerned about

having other children and may pass it on.

So, with myself haivng gone through necessary testing

to lay a history, I

have saved them allot of going through all that . . .

I had to start from

scratch for no one in my family had any history or

known symptoms or

diagnosis.

I recommend making sure you keep a copy on hand of

your results to furnish

doctors and other necessary people with info on your

condition. My oldest

daughter's new husband is in military; they are paying

to have her tested

for being a carrier. . but they needed confirmation

( of my CMT1X) to

request the testing and the insurance to pay. I was

fortunate to be able to

Fax them that information immediately without waiting

to get it from Doc.

Anyway, even though it takes while I am very glad they

do take the time to

really study and get results correct. It is worth it

in the end. I do find

they don't necessarily contact you though when those

results are complete

so I would give them a month; check on it and keep

checking , ask when to

expect them and then request a copy to be sent to you.

When my son's came

back, they were inconclusive but no one notified me;

(MDA) I waited the

normal time (two months) before checking and they knew

before that and I

could have taken him back sooner to draw blood to redo

if I'd known but no

one called me. So, don't assume they will call you . .

.

Good luck; Libby

=====

" I THANK GOD FOR MY HANDICAPS, FOR, THROUGH THEM, I HAVE FOUND MYSELF, MY

WORK, AND MY GOD. " - Helen Keller

" TO MAKE A FRIEND TAKES BUT A MOMENT. . . TO BE A FRIEND TAKES A LIFETIME "

" FRIENDS ARE LIKE PILLARS; SOMETMES THEY LEAN ON YOU; SOMETIMES THEY HOLD YOU

UP! "

LIBBY'S HOMEPAGE www.geocities.com/charcot_marie_tooth

(^-*) (CM)LIBBY IN ARKANSAS

__________________________________________________

[Guest guest]

In a message dated 12/13/2000 6:40:31 PM Eastern Standard Time, lls@...

writes:

<< Libby,

Lamar here,

have no fear about the quantity of blood taken being a problem with anemia.

I know the tubes look HUGE, but they actually contain very little. The large

tubes will usually hold 5 cc, which is 1 teaspoon. The small ones only hold

3cc. Therefore 3 large tubes is only a tablespoon of blood. It is not

enough to make a difference in a severely anemic person >>

I'm the same way, I get weak after having just a few vials of blood taken.

Did this years ago when I was having my children, didn't even know about the

CMT at that time.

[Guest guest]

:

Lamar here,

Getting weak and faint when having blood drawn for testing is a totally

different matter than anemia. Many people CMT or not have this reaction. In

fact I have seen athletes faint from having blood drawn or even from having a

shot. While very real this is a psychological reaction and not from the blood

loss.

----- Original Message -----

From: ktbugg54@...

egroups

Sent: Thursday, December 14, 2000 06:13 AM

Subject: Re: [] digest/DNA testing; A waiting game

In a message dated 12/13/2000 6:40:31 PM Eastern Standard Time, lls@...

writes:

<< Libby,

Lamar here,

have no fear about the quantity of blood taken being a problem with anemia.

I know the tubes look HUGE, but they actually contain very little. The large

tubes will usually hold 5 cc, which is 1 teaspoon. The small ones only hold

3cc. Therefore 3 large tubes is only a tablespoon of blood. It is not

enough to make a difference in a severely anemic person >>

I'm the same way, I get weak after having just a few vials of blood taken.

Did this years ago when I was having my children, didn't even know about the

CMT at that time.

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