The Ambry Test(TM): CF' Detects 900 Gene Mutations

[Guest guest]

Hi,

thi sounds very promising for those of you, who are still in limbo

with the DX. Good luck!

Peace

Torsten, dad of Fiona 4wcf

Wednesday October 17, 9:03 am Eastern Time

Press Release

SOURCE: Ambry Genetics Corp.

Ambry Genetics Corp. Announces the Genetics Testing Industry's Most

Comprehensive Test for Cystic Fibrosis Mutations

'The Ambry Test: CF' Detects 900 Gene Mutations Compared to 87

for the Closest Competitor

COSTA MESA, Calif., Oct. 17 /PRNewswire/ -- Ambry Genetics Corp. has

developed a tool to test for more than 900 mutations of the cystic

fibrosis (CF) gene. Competing tests only screen for 25 to 87

mutations. The Ambry Test: CF is also capable of discovering

previously unknown mutations that could lead to the disease.

The Ambry Test: CF uses DNA sequencing technology similar to that

employed in the Human Genome Project. Improvements introduced by

Ambry make the analysis faster, more comprehensive and more cost

effective than other tests currently available.

``Our approach is not simply to check for a small set of known

mutations. We analyze the entire coding region of each gene,'' said

Dunlop, president of Ambry Genetics. ``This approach not only

detects common and rare mutations but also discovers new ones.

``The Ambry Test: CF is the test you want to use when you

absolutely need to know,'' Dunlop said. ``This test should be the

standard for all medium to high-risk patients, where close relatives

have the disease or where a spouse is known to be a carrier.

``Using this important new platform technology, Ambry is able to

quickly develop tests for mutations on any human gene,'' Dunlop said.

``Ambry Genetics is poised to introduce tests on other genes where

mutations cause disease.

``The ultimate goal is to assist doctors in helping their patients to

manage risk factors and anticipate problems before symptoms arise,''

Dunlop said.

The Ambry Test: CF, which costs $285, is already in use by

physicians, genetic counselors and sperm banks to provide early

warnings to prospective parents. When both parents are carriers of a

CF mutation they do not have symptoms of the disease. However, they

do have a 25 percent chance of having a child with cystic fibrosis.

As a result of science's growing ability to identify people who carry

a CF gene mutation, this month the American College of Obstetrics and

Gynecology recommended that all expecting couples be provided with

information about carrier-status testing for cystic fibrosis.

Cystic fibrosis is one of the most common fatal inherited genetic

disorders. It is present in approximately 1 in 3,900 of all live

births in the United States. CF causes secretor glands to produce

abnormally thick mucous in the lungs and intestines. The thick mucus

leads to pneumonia, digestive problems and infertility. The average

life expectancy for those with cystic fibrosis is the early 30s.

The Ambry Test is able to identify mutations regardless of ethnic

background.

``Cystic fibrosis occurs most commonly in Northern and Eastern

Europeans of Caucasian ancestry. For this reason, the mutations that

other carrier tests look for are weighted toward mutations that

appear commonly in Caucasians,'' said Keiles, Director of

Genetics for Ambry. ``The Ambry Test: CF simply looks for any

mutation that occurs in the critical gene, regardless of ethnicity,''

Keiles said.

Based on published data of carrier frequencies of various ethnic

backgrounds, the overall detection rate of a 25-mutation panel is

approximately 74 percent (i.e., out of 100 carriers of a CF mutation,

the test will detect the gene mutation in 74 cases). For an 87-

mutation panel, the detection rate is 83 percent. For the Ambry Test

: CF, with the ability to detect more than 900 mutations, the

detection rate is increased to 90 percent or more.

The Ambry Test: CF was recently validated using ``blind'' samples

provided by the College of American Pathologists. The Ambry Test

correctly identified the mutation in each sample. In other samples,

the test found the second, previously unidentified allele in persons

who were known to have CF but whose second mutation had not been

identified by other tests.

Tests conducted at Ambry Genetics are performed within the guidelines

of the American College of Medical Genetics and are approved under

the Clinical Laboratory Improvement Amendments act of 1988 (CLIA).

Ambry Genetics was established in 1999 to develop testing technology

that would more accurately detect disease-causing mutations, and to

advance the medical uses of genetic testing.

NOTE: This press release contains statements that may be considered

``forward-looking'' as defined by the Private Securities Litigation

Reform Act of 1995. These statements involve risks and uncertainties

that could cause actual company results to differ materially from

those reflected in the forward-looking statements. While Ambry

Genetics is privately held and has a limited number of shareholders,

these shareholders should recognize that many important factors

affect Ambry's ability to successfully develop and commercialize its

genetic tests, including the ability to obtain and maintain its

definitive patents and licenses; to continue to demonstrate the

efficacy of its testing procedures; to overcome technical hurdles

that may arise; to meet applicable regulatory standards; to receive

required regulatory approvals; to be capable of processing increasing

volumes of genetic samples at reasonable costs; to compete

successfully against other tests, and to market the company's tests

successfully. There can be no assurance Ambry will be successful in

its efforts to develop and commercialize new tests or to generate

profits from its current test of the CF gene.

For additional information, please contact Ambry Genetics Corp. at

2060 Placentia Ave., Suite A5, Costa Mesa CA 92627, ,

or visit Ambry's web site at ambrygen.com.

SOURCE: Ambry Genetics Corp.

[Guest guest]

Torsten,

you're a life saver God sent..thanks a lot

oya

=====

__________________________________________________

[Guest guest]

Torsten,

Thanks for posting this information. We are still in " limbo land " over

what my sons second mutation is- we know that I carry Delta F508, but as

of yet have been unable to find the gene my husband carries. I will be

calling my son's doctor today to check into having the Ambry test done.

Laurie - mom of 12wCF- Idaho

__________________________________________________

[Guest guest]

I have a quick question for everyone about the Ambry testing. Brooklyn goes

back to the GI doctor today and will have lab work done. I am wondering if I

should ask for the 900 mutation test. She has had the 87 mutation version and

it was negative. She has not gotten sick in over two weeks, but still is pale

with dark circles under her eyes. Her stomach is huge. The good news is she is

eating like a horse. She can't seem to get enough to eat. It is really strange

since she is underweight. I am hoping to hit 19 or even 20 lbs. today when we go

in (she is 19 months old now). Anyway, besides this and the alternating

constipation and diarrhea she is fine. I don't want to push it if it is not

needed. I also wonder if I should ask to be sent to Dallas for a Sweat Test

(she has never had one). I'm sorry to bother everyone, but I feel like I need

to have a plan when I go to the doctor (or he'll blow me off since she has not

thrown up in such a long while).

Actually, I guess this is not so quick. I have a couple more questions. What do

you look for in your blood work? And my last question is: Has anyone ever

noticed tiny crystals in their child's stool? They look a little like salt or

sugar. I know that sounds crazy, but this is the third time I've seen it the

last few weeks and it looks just like someone sprinkled a little salt over her

BM's.

Thank you so much for your time.

Christy

>

> Torsten,

>

> Thanks for posting this information. We are still in " limbo land " over

> what my sons second mutation is- we know that I carry Delta F508, but as

> of yet have been unable to find the gene my husband carries. I will be

> calling my son's doctor today to check into having the Ambry test done.

>

>

>

> Laurie - mom of 12wCF- Idaho

>

> __________________________________________________

>

[Guest guest]

You really ought to push for more tests. Your kid has the classic

symptoms for cf and it is amazing that the doctor has failed to order

a sweat test, even, with such obvious red flags.

I strongly suggest you find another doctor, especially if the one you

have now won't refer your child to a cf clinic for further testing.

~

>

> >

> > Torsten,

> >

> > Thanks for posting this information. We are still in " limbo

land " over

> > what my sons second mutation is- we know that I carry Delta F508,

but as

> > of yet have been unable to find the gene my husband carries. I

will be

> > calling my son's doctor today to check into having the Ambry test

done.

> >

> >

> >

> > Laurie - mom of 12wCF- Idaho

> >

> > __________________________________________________

> >

[Guest guest]

Laurie; I don't know where you live, but I know for sure that it is done at

Toronto and

at s Hopkins; helped us out as one of my mediterranean alleles was not

known

for some time, and my youngest (of 3 adults, has cf, too and they found her

alles

very speedily. Good Luck,

n Rojas wcf, adult children, cousins wcf and all that!

[Guest guest]

Christy, go for everything you can get for Brooklyn; that attitude changed my

cf

child's life; she is now 35; she definitely needs a sweat chloride/potassium

test, for sure. Good luck, and keep us posted, please! Love,

n Rojas wcf, mom of 3 adults, youngest wcf--all hanging in here.

[Guest guest]

I think that really is right here.

n Rojas