RE: Re: Fertility tests

[Guest guest]

Also, does anyone know where in the USA one can get the Type I or II

genetic testing done? Thanks. Sheila Mathias, Iowa

blepharophimosis Fertility tests

> >

> >

> >

> >

> > Hi there,

> >

> > I'm a 27 year old woman with blepherophimosis and have just been

> > directed to this site. The link between this condition and

> fertility

> > problems has only been pointed out to me recently. I have agreed

to

> > go for fertility tests, which I hope will tell me whether or not

I

> > might have difficulties conceiving. There is so much literature

> out

> > there (much of it is full of medical jargon). Can anyone tell

me

> > what kind of tests will be performed and how certain I will be

that

> > I have either Type I or II?

> >

> > Many thanks,

> >

> >

> >

> >

> >

> >

> >

[Guest guest]

Hi

I helped out with the Moorfields study, as did a couple of my "BPES" friends.

Shireen

London, England

From: navynikkas [mailto:sarah@...] Sent: 03 February 2005 12:02blepharophimosis Subject: blepharophimosis Re: Fertility tests

Thanks to all of you have replied. Does anyone know if the genetic tests that Sharon mentioned are available in the UK? I was a patient at Moorfields Eye Hospital, where I had my operations as a child. I recently went back there to take part in some research (regression therapy, or what?!), but I don't believe I will find out the results of these tests. Did anyone else take part in this research?Best wishes,Hi > > I don't know too much about this, but I do know that the tests are > the same as any woman might have. (in other words, it isn't a special > BPES test, it it just a regular test done for any woman who is > experiencing problems in this area)> > In other words if you ask a nurse or doctor, they can explain it to > you.> > I believe the tests are done on a small sample of blood.> > Hope that helps> > Shireen> > > > > > ---------------------------------> > From: navynikkas [mailto:sarah@s...] > > Sent: 02 February 2005 13:12> > blepharophimosis > > Subject: blepharophimosis Fertility tests> > > > > > > > > > Hi there,> > > > I'm a 27 year old woman with blepherophimosis and have just been > > directed to this site. The link between this condition and > fertility > > problems has only been pointed out to me recently. I have agreed to > > go for fertility tests, which I hope will tell me whether or not I > > might have difficulties conceiving. There is so much literature > out > > there (much of it is full of medical jargon). Can anyone tell me > > what kind of tests will be performed and how certain I will be that > > I have either Type I or II?> > > > Many thanks,> > > > > > > > > > > > > >

[Guest guest]

What about this type of testing in the US. Anyone know who to go to?

Pam

[Guest guest]

Hi

This information may be of help to you. I got it from this site: http://www.geneclinics.org/servlet/access?db=geneclinics & site=gt & id=8888891 & key=yvyThuThGZXK5 & gry= & fcn=y & fw=suti & filename=/profiles/bpes/index.html

This article has quite a lot of complicated words in it. May I recommend the following:

1. Print off the full article and send it, along with a letter, to your doctor

2. Ask to be referred to a geneticist

3. Ask the geneticist to go through the article with you, section by section, explaining it to you in simple English

4. Take a pen and paper, make notes. Make sure that somebody is taking care of your child so that you can concentrate on what is being said. It can get a bit complicated.

I have found this approach to be very successful. I feel that if you send a well written medical article to somebody and say "now please explain it to me", how can they do anything but co-operate?

I hope this helps

Shireen

Management

Management requires the input of several specialists including a geneticist, (pediatric) ophthalmologist, oculoplastic surgeon, pediatrician, reproductive endocrinologist, and gynecologist.

Evaluations at Initial Diagnosis

Individuals should be thoroughly examined by a (pediatric) opthalmologist for visual acuity measurement, refraction, measurement of ocular movements and strabismus, and measurement of palpebral apertures and eyelid elevation. Individuals with evidence of amblyopia or strabismus should be referred to a pediatric ophthalmologist for appropriate management [beckingsale et al 2003].

Individuals with BPES should be referred to a clinical geneticist for an appropriate genetic workup and counseling. In girls affected with BPES, the family history can already give an indication of the type of BPES (association with subfertility or infertility in affected females). In uninformative families or simplex cases (i.e., no other family members are affected), molecular genetic testing may be helpful for assessing for premature ovarian failure risk in some cases.

Testing

Females with premature ovarian failure have endocrinological findings of hypergonadotrophic hypogonadism: elevated serum concentration of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) and decreased serum concentration of estradiol and progesterone. Ultrasonography reveals a small hypoplastic uterus and streak ovaries. Typical anatomic pathological findings of the ovary are "resistant-ovary syndrome" (presence of primordial follicles, but no follicular development) progressing into a "true premature menopause" (presence of scars in place of primordial follicles) [Fraser et al 1988].

Molecular Genetic Testing

GeneReviews designates a molecular genetic test as clinically available only if the test is listed in the GeneTests Laboratory Directory by at least one US CLIA-certified laboratory or a clinical laboratory outside the US. GeneTests does not independently verify information provided by laboratories and does not warrant any aspect of a laboratory's work; listing in GeneTests does not imply that laboratories are in compliance with accreditation, licensure, or patent laws. Clinicians must communicate directly with the laboratories to verify information. —ED.

Gene. FOXL2 is the only gene currently known to be associated with blepharophimosis syndrome.

Molecular genetic testing: Clinical uses

Confirmatory diagnostic testing Prenatal diagnosis

Molecular genetic testing: Clinical methods

Sequence analysis of the single coding exon of FOXL2. All intragenic FOXL2 mutations identified to date are confined to this exon [De Baere et al 2003 , Beysen et al 2004].

Deletion detection using fluorescence in situ hybridization (FISH). FISH with FOXL2-containing BAC RP11-548O1 may be used to detect microdeletions of the FOXL2 region in individuals in whom sequence analysis does not reveal a mutation. Exact frequencies of FOXL2 microdeletions resulting in BPES are not known. The detection rate of the combined approach consisting of sequence and FISH analysis is around 70% in familial as well as in simplex cases [De Baere et al 2003]. This percentage may be explained by a misdiagnosis in some cases, by a total gene deletion, or by a defect residing outside the transcription unit (position effect) that may be missed through the current screening method.

Table 1 summarizes molecular genetic testing for this disorder.

Table 1. Molecular Genetic Testing Used in Blepharophimosis, Ptosis, and Epicanthus Inversus

Test Method

Mutations Detected

Mutation Detection Rate

Test Availability

Sequence analysis

Mutations in open reading frame of FOXL2 1

70%

Clinical

FISH

Microdeletions of 3q23 (including FOXL2)

1. All intragenic mutations identified to date are in the single exon 1 (containing the entire coding region).

Interpretation of test results. For issues to consider in interpretation of sequence analysis results, click here.

From: obriengroup@... [mailto:obriengroup@...] Sent: 05 February 2005 16:49blepharophimosis Subject: Re: blepharophimosis Re: Fertility tests

What about this type of testing in the US. Anyone know who to go to?

Pam

[Guest guest]

We have been told the only place they do any testing for bleph is in Belgium. It is the only lab listed on the internet also as doing testing. mathias <mathias@...> wrote:

Also, does anyone know where in the USA one can get the Type I or IIgenetic testing done? Thanks. Sheila Mathias, Iowa__________________________________________________

[Guest guest]

I was told also that the only (2) labs that do the testing are outside the US ..I can't seem to find anything related to testing in the US thru the internet or thru or Dr's ...Anyone have any further information to share on this ? Lancaster <kenleyejp@...> wrote:

We have been told the only place they do any testing for bleph is in Belgium. It is the only lab listed on the internet also as doing testing. mathias <mathias@...> wrote: Also, does anyone know where in the USA one can get the Type I or IIgenetic testing done? Thanks. Sheila Mathias, Iowa

__________________________________________________

[Guest guest]

we did our genetic testing here in canada and they sent the blood samples to 2 labs, one in sandiego and the other blood samples to los angeles....

Tonikka

-----Original Message-----From: Sharon A [mailto:besilly12000@...]Sent: February 6, 2005 10:05 AMblepharophimosis Subject: RE: blepharophimosis Re: Fertility tests

I was told also that the only (2) labs that do the testing are outside the US ..I can't seem to find anything related to testing in the US thru the internet or thru or Dr's ...Anyone have any further information to share on this ? Lancaster <kenleyejp@...> wrote:

We have been told the only place they do any testing for bleph is in Belgium. It is the only lab listed on the internet also as doing testing. mathias <mathias@...> wrote: Also, does anyone know where in the USA one can get the Type I or IIgenetic testing done? Thanks. Sheila Mathias, Iowa

__________________________________________________

[Guest guest]

Does that tell you exactly what type you have ? Type i or II ? Has anyone else had this done ? Tonikka and <lyndenhunter@...> wrote:

we did our genetic testing here in canada and they sent the blood samples to 2 labs, one in sandiego and the other blood samples to los angeles....

Tonikka

-----Original Message-----From: Sharon A [mailto:besilly12000@...]Sent: February 6, 2005 10:05 AMblepharophimosis Subject: RE: blepharophimosis Re: Fertility tests

I was told also that the only (2) labs that do the testing are outside the US ..I can't seem to find anything related to testing in the US thru the internet or thru or Dr's ...Anyone have any further information to share on this ? Lancaster <kenleyejp@...> wrote:

We have been told the only place they do any testing for bleph is in Belgium. It is the only lab listed on the internet also as doing testing. mathias <mathias@...> wrote: Also, does anyone know where in the USA one can get the Type I or IIgenetic testing done? Thanks. Sheila Mathias, Iowa

__________________________________________________

[Guest guest]

Can I get the address and contact

information for the labs in San Diego and Log Angeles or the office that you

went to in Canada? Thanks. Sheila in Iowa, USA

RE: blepharophimosis

Re: Fertility tests

I was told also that the only (2) labs that do the

testing are outside the US ..I can't seem to find anything related to testing

in the US thru the internet or thru or Dr's ...Anyone have any further

information to share on this ?

Lancaster

<kenleyejp@...> wrote:

We have been told the only place they do any testing

for bleph is in Belgium. It is the only lab listed on the internet also

as doing testing.

mathias

<mathias@...> wrote:

Also, does anyone know where in the USA one can get

the Type I or II

genetic testing done? Thanks. Sheila

Mathias, Iowa

__________________________________________________

[Guest guest]

Yes I too would love this information if you have it ...Thanks Sharon mathias <mathias@...> wrote:

Can I get the address and contact information for the labs in San Diego and Log Angeles or the office that you went to in Canada? Thanks. Sheila in Iowa, USA

-----Original Message-----From: Sharon A [mailto:besilly12000@...] Sent: Monday, February 07, 2005 8:13 AMblepharophimosis Subject: RE: blepharophimosis Re: Fertility tests

Does that tell you exactly what type you have ? Type i or II ? Has anyone else had this done ? Tonikka and <lyndenhunter@...> wrote:

we did our genetic testing here in canada and they sent the blood samples to 2 labs, one in sandiego and the other blood samples to los angeles....

Tonikka

-----Original Message-----From: Sharon A [mailto:besilly12000@...]Sent: February 6, 2005 10:05 AMblepharophimosis Subject: RE: blepharophimosis Re: Fertility tests

I was told also that the only (2) labs that do the testing are outside the US ..I can't seem to find anything related to testing in the US thru the internet or thru or Dr's ...Anyone have any further information to share on this ? Lancaster <kenleyejp@...> wrote:

We have been told the only place they do any testing for bleph is in Belgium. It is the only lab listed on the internet also as doing testing. mathias <mathias@...> wrote:

Also, does anyone know where in the USA one can get the Type I or IIgenetic testing done? Thanks. Sheila Mathias, Iowa

__________________________________________________