| Genetics Section |
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Hereditary multiple exostoses is inherited in an autosomal dominant disease.
Most individuals with MHE / MO / HME have a parent who also has this condition however
approximately 10% of individuals with MHE / MO / HME have this condition as a result of a
spontaneous mutation are thus the first person in their family to be affected.
Genetic Testing of the EXT1 and EXT2 genes is available on a clinical basis. Please read
Genetic Guides and laboratories information located near the bottom of this website page.
There are two known genes that cause this disease EXT1 located on chromosome 8q23-q24 and EXT2
located on chromosome 11p11-p12. Approximately 60 to 70 %are located EXT1 gene and 20 to 30%
are located EXT2 mutation. In 10 to 20% of the patients, no mutation is found.
Offspring of an affected individual have a 50% risk of inheriting the altered gene for hereditary multiple
exostoses.
Prenatal diagnosis:
You must have genetic testing preformed and your MHE / MO / HME mutation (disease-causing
allele)must be found before prenatal diagnosis can be preformed. Analysis of DNA extracted from fetal
cells obtained by amniocentesis usually performed at about 15-18 weeks' gestation or chorionic
villus sampling (CVS) at about 10-12 weeks' gestation.
Note: Gestational age is expressed as menstrual weeks calculated either from the first day of the last
normal menstrual period or by ultrasound measurements.
Requests for prenatal testing for a condition such as MHE / MO / HME that does not affect intellect or
life span, careful discussion of these issues is appropriate. Differences in perspective may exist among
medical professionals and families regarding the use of prenatal testing, particularly if the testing is
being considered for the purpose of pregnancy termination rather than early diagnosis. Although most
centers would consider decisions about prenatal testing to be the choice of the parents.
Preimplantation genetic diagnosis link to help you find fertility centers offering (PGD)
Screening Embryos for Disease:
You must have genetic testing preformed and your MHE / MO / HME mutation (disease-causing allele
must be found before PGD can be preformed.
Preimplantation genetic diagnosis (PGD) is a test that screens for genetic mutations among
embryos created during invitro fertilization.
Developed in the early 1990's, preimplantation genetic diagnosis (PGD) is a way for couples to prevent
a pregnancy affected by a genetic condition disorder. This form of genetic testing is performed on
embryos during an in vitro fertilization (IVF) cycle. The embryos that have been analyzed and are found
to be normal are transferred into the woman's uterus, where, hopefully, they will implant and result in
the birth of a healthy child.
With PGD, DNA samples from embryos created in-vitro by the combination of a mother's egg and a
father's sperm are analyzed for gene abnormalities that can cause disorders. Fertility specialists can
use the results of this analysis to select only mutation-free embryos for implantation into the mother's
uterus.
Before PGD, couples at higher risks for conceiving a child with a particular disorder would have to
initiate the pregnancy and then undergo chorionic villus sampling in the first trimester or amniocentesis
in the second trimester to test the fetus for the presence of disease. If the fetus tested positive for
the disorder, the couple would be faced with the dilemma of whether or not to terminate the
pregnancy.
If you are considering PGD, you should research the as many fertility centers as possible and ask for
there success rates. Success rate can vary, consider asking the success rate using PGD for single gene
disorders and ages of theses woman. You may also want to inquire how long the fertility center has
been preforming PGD.
Most individuals with MHE / MO / HME have a parent who also has this condition however
approximately 10% of individuals with MHE / MO / HME have this condition as a result of a
spontaneous mutation are thus the first person in their family to be affected.
Genetic Testing of the EXT1 and EXT2 genes is available on a clinical basis. Please read
Genetic Guides and laboratories information located near the bottom of this website page.
There are two known genes that cause this disease EXT1 located on chromosome 8q23-q24 and EXT2
located on chromosome 11p11-p12. Approximately 60 to 70 %are located EXT1 gene and 20 to 30%
are located EXT2 mutation. In 10 to 20% of the patients, no mutation is found.
Offspring of an affected individual have a 50% risk of inheriting the altered gene for hereditary multiple
exostoses.
Prenatal diagnosis:
You must have genetic testing preformed and your MHE / MO / HME mutation (disease-causing
allele)must be found before prenatal diagnosis can be preformed. Analysis of DNA extracted from fetal
cells obtained by amniocentesis usually performed at about 15-18 weeks' gestation or chorionic
villus sampling (CVS) at about 10-12 weeks' gestation.
Note: Gestational age is expressed as menstrual weeks calculated either from the first day of the last
normal menstrual period or by ultrasound measurements.
Requests for prenatal testing for a condition such as MHE / MO / HME that does not affect intellect or
life span, careful discussion of these issues is appropriate. Differences in perspective may exist among
medical professionals and families regarding the use of prenatal testing, particularly if the testing is
being considered for the purpose of pregnancy termination rather than early diagnosis. Although most
centers would consider decisions about prenatal testing to be the choice of the parents.
Preimplantation genetic diagnosis link to help you find fertility centers offering (PGD)
Screening Embryos for Disease:
You must have genetic testing preformed and your MHE / MO / HME mutation (disease-causing allele
must be found before PGD can be preformed.
Preimplantation genetic diagnosis (PGD) is a test that screens for genetic mutations among
embryos created during invitro fertilization.
Developed in the early 1990's, preimplantation genetic diagnosis (PGD) is a way for couples to prevent
a pregnancy affected by a genetic condition disorder. This form of genetic testing is performed on
embryos during an in vitro fertilization (IVF) cycle. The embryos that have been analyzed and are found
to be normal are transferred into the woman's uterus, where, hopefully, they will implant and result in
the birth of a healthy child.
With PGD, DNA samples from embryos created in-vitro by the combination of a mother's egg and a
father's sperm are analyzed for gene abnormalities that can cause disorders. Fertility specialists can
use the results of this analysis to select only mutation-free embryos for implantation into the mother's
uterus.
Before PGD, couples at higher risks for conceiving a child with a particular disorder would have to
initiate the pregnancy and then undergo chorionic villus sampling in the first trimester or amniocentesis
in the second trimester to test the fetus for the presence of disease. If the fetus tested positive for
the disorder, the couple would be faced with the dilemma of whether or not to terminate the
pregnancy.
If you are considering PGD, you should research the as many fertility centers as possible and ask for
there success rates. Success rate can vary, consider asking the success rate using PGD for single gene
disorders and ages of theses woman. You may also want to inquire how long the fertility center has
been preforming PGD.
Genetic Testing of Embryos Practices and Perspectives of U.S. IVF Clinics (link to published
study)
Image of Embryo Biopsy for Preimplantation Genetic Diagnosis (PGD)
You will need to clink the left hand corner to start this 28 second movie once you have clicked this
tab
study)
Image of Embryo Biopsy for Preimplantation Genetic Diagnosis (PGD)
You will need to clink the left hand corner to start this 28 second movie once you have clicked this
tab
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Please note that you have the right to ask your Genetic Counselor what laboratory your blood samples
are being sent to for your genetic testing.
Please note that insurance coverage in the USA is different for everyone, some health insurance will
cover the costs of genetic testing and others will not. If your health insurance does cover genetic
testing the blood samples will most likely be sent to GeneDx.
If your insurance does not cover genetic testing and you will be paying out of pocket for genetic
testing there is a price difference and having genetic testing done in Belgium or Italy will cost less and
offer a wider range of genetic testing for the EXT 1 & EXT2 genes. MHERF is only pointing this out as
the consumer, you have the right to know the differences in genetic testing that can be preformed and
costs as well.
All labs located on the web-page are certified in the USA or Europe and have world wide reputations.
The Genetic counselor can make the arrangements to over night a blood sample to Belgium or Italy, if
this is the laboratory that you have chosen for your genetic testing of the EXT1 and EXT2 genes .
If have been diagnosed with MHE / MO / HME and have received a negative result, (meaning a mutation
or deletion was not found during clinical testing from other laboratories, there maybe more clinical
genetic testing that can be preformed by Department of Medical Genetics, University of Antwerp
Belgium or The Genetic Unit,The Rizzoli Orthopaedic Institute, Bologna, Italy. Your genetic
counselor should contact Wim Wutys, Ph.D, Department of Medical Genetics, University of
Antwerp Belgium or Luca Sangiorgi, M.D.,Ph.D.,The Rizzoli Orthopaedic Institute, Bologna,
Italy directly, so they may review all genetic testing that has been preformed thus far and advise what
additional clinical genetic testing that could be offered.
Laboratories offer more then one clinical genetic test that can be preformed. (see chart below)
If after all clinical genetic testing has been completed by Belgium or Italy, and if there no mutation
/deletion is found, you will be offered to have your sample put into there research laboratories. If
found a mutation /deletion is found research lab, it will be confirmed in the Clinical lab and the results
will then be sent to your genetic counselor. There is no time frame connected with research genetic
testing (could be a few months / a year or years in the future, there is just no way to tell) this
additional research genetic testing will cost you nothing. A clinical conformation fee of $350.00 US
dollars would be required for clinical conformation of any research genetic testing preformed in this
manner.
There have been cases of people being misdiagnosed with MHE / MO / HME, your genetic counselor
should review your medical records to check to make sure misdiagnoses was not given, if there is any
question your genetic counselor may contact this foundation for a help in obtaining a second opinion.
Genetic testing is different then having "quote" normal blood work testing preformed, what ever
laboratory preforms this genetic testing, in general 2-3 months and depending on the number of tests
that need to be preformed could be longer. Once the mutation or deletion is found and if the person is
going to use PGD (please read above concerning this) genetic testing of the embryos takes only a
matter of a few hours. This will be explained to you in detail by the fertility centers genetic counselor. If
you have questions feel free to contact Sarah Ziegler and she will be happy to assist you.
are being sent to for your genetic testing.
Please note that insurance coverage in the USA is different for everyone, some health insurance will
cover the costs of genetic testing and others will not. If your health insurance does cover genetic
testing the blood samples will most likely be sent to GeneDx.
If your insurance does not cover genetic testing and you will be paying out of pocket for genetic
testing there is a price difference and having genetic testing done in Belgium or Italy will cost less and
offer a wider range of genetic testing for the EXT 1 & EXT2 genes. MHERF is only pointing this out as
the consumer, you have the right to know the differences in genetic testing that can be preformed and
costs as well.
All labs located on the web-page are certified in the USA or Europe and have world wide reputations.
The Genetic counselor can make the arrangements to over night a blood sample to Belgium or Italy, if
this is the laboratory that you have chosen for your genetic testing of the EXT1 and EXT2 genes .
If have been diagnosed with MHE / MO / HME and have received a negative result, (meaning a mutation
or deletion was not found during clinical testing from other laboratories, there maybe more clinical
genetic testing that can be preformed by Department of Medical Genetics, University of Antwerp
Belgium or The Genetic Unit,The Rizzoli Orthopaedic Institute, Bologna, Italy. Your genetic
counselor should contact Wim Wutys, Ph.D, Department of Medical Genetics, University of
Antwerp Belgium or Luca Sangiorgi, M.D.,Ph.D.,The Rizzoli Orthopaedic Institute, Bologna,
Italy directly, so they may review all genetic testing that has been preformed thus far and advise what
additional clinical genetic testing that could be offered.
Laboratories offer more then one clinical genetic test that can be preformed. (see chart below)
If after all clinical genetic testing has been completed by Belgium or Italy, and if there no mutation
/deletion is found, you will be offered to have your sample put into there research laboratories. If
found a mutation /deletion is found research lab, it will be confirmed in the Clinical lab and the results
will then be sent to your genetic counselor. There is no time frame connected with research genetic
testing (could be a few months / a year or years in the future, there is just no way to tell) this
additional research genetic testing will cost you nothing. A clinical conformation fee of $350.00 US
dollars would be required for clinical conformation of any research genetic testing preformed in this
manner.
There have been cases of people being misdiagnosed with MHE / MO / HME, your genetic counselor
should review your medical records to check to make sure misdiagnoses was not given, if there is any
question your genetic counselor may contact this foundation for a help in obtaining a second opinion.
Genetic testing is different then having "quote" normal blood work testing preformed, what ever
laboratory preforms this genetic testing, in general 2-3 months and depending on the number of tests
that need to be preformed could be longer. Once the mutation or deletion is found and if the person is
going to use PGD (please read above concerning this) genetic testing of the embryos takes only a
matter of a few hours. This will be explained to you in detail by the fertility centers genetic counselor. If
you have questions feel free to contact Sarah Ziegler and she will be happy to assist you.
This contact form is encrypted with the following as required by HIPPA regulations, SSL 3.0,
RC4 with 128 bit encryption (High); RSA with 1024 bit exchange. If you have any trouble,
viewing this form please click this following link
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If you are Physician or Genetic Counselor would a second opinion or assistance related to care, the
physician can to email Sarah Ziegler directly or sign into the physician registry. At that point the
MHE Research Foundation will put the Physician / Genetic Counselor directly in contact with a
Physician or Geneticists that could help sort out the medical issue directly. This assistance is offered
to medical professionals only. If you are a patient wanting a second opinion please use the
directories located on this webpage, if after you still need assistance contact Sarah Ziegler.
physician can to email Sarah Ziegler directly or sign into the physician registry. At that point the
MHE Research Foundation will put the Physician / Genetic Counselor directly in contact with a
Physician or Geneticists that could help sort out the medical issue directly. This assistance is offered
to medical professionals only. If you are a patient wanting a second opinion please use the
directories located on this webpage, if after you still need assistance contact Sarah Ziegler.
|
Wim Wuyts, Ph.D.
Supervisor DNA Diagnostics,
Department of Medical Genetics University
and University Hospital of Antwerp, Belgium
Partner in the EuroBoNeT consortium, a European Commission granted
Network of Excellence for studying the pathology and genetics of bone tumors.
Supervisor DNA Diagnostics,
Department of Medical Genetics University
and University Hospital of Antwerp, Belgium
Partner in the EuroBoNeT consortium, a European Commission granted
Network of Excellence for studying the pathology and genetics of bone tumors.
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Professional in Genetic Counseloring are advised to read this publication
Press Release 1 / 19 / 08
Mutation Screening of EXT1 and EXT2 by Denaturing High-Performance Liquid Chromatography,
Direct Sequencing Analysis, Fluorescence in Situ Hybridization, and a New Multiplex
Ligation-Dependent Probe Amplification Probe Set in Patients with Multiple Osteochondromas
Ivy Jennes*, Mark M. Entius{dagger}, Els Van Hul*, Alessandro Parra{ddagger}, Luca Sangiorgi
{ddagger} and Wim Wuyts*
To Read this publication Click Here
Both Luca Sangiorgi, M.D., Ph.D. and Wim Wuyts, Ph.D. are members of our Scientific & Medical
Advisory Board and our foundation helped support this research
Press Release 1 / 19 / 08
Mutation Screening of EXT1 and EXT2 by Denaturing High-Performance Liquid Chromatography,
Direct Sequencing Analysis, Fluorescence in Situ Hybridization, and a New Multiplex
Ligation-Dependent Probe Amplification Probe Set in Patients with Multiple Osteochondromas
Ivy Jennes*, Mark M. Entius{dagger}, Els Van Hul*, Alessandro Parra{ddagger}, Luca Sangiorgi
{ddagger} and Wim Wuyts*
To Read this publication Click Here
Both Luca Sangiorgi, M.D., Ph.D. and Wim Wuyts, Ph.D. are members of our Scientific & Medical
Advisory Board and our foundation helped support this research
This website is regularly reviewed by members of the Scientific and Medical Advisory Board of the MHE Research Foundation.
Disclaimer: While many find the information useful, it is in no way a substitute for professional medical care.
The information provided here is for educational and informational purposes only. This website does not engage in the practice
of medicine. In all cases we recommend that you consult your own physician regarding any course of treatment or medicine.
The information provided here is for educational and informational purposes only. This website does not engage in the practice
of medicine. In all cases we recommend that you consult your own physician regarding any course of treatment or medicine.
Written consent must be obtained to attach web pages or the files attached to this website. Please email webmaster.
This web page was updated last on 2/20/08, 4:00 pm Eastern time
| Email the webmaster: webmaster@mheresearchfoundation.org Materials on this website are protected by copyright Copyright © 2008 The MHE Research Foundation |
The MHE Research Foundation, we comply with the HONcode standard for health trust worthy information:
By the Health On the Net Foundation. Click here to verify.# HON Conduct 282463 and is linked on the NIH
National Library of Medicine, Directory of Health Organizations (SIS) website, as well as the link for Patient
Information on The Diseases Database a cross-referenced index of human disease, and the Intute: health & life
sciences a free online service providing access to the very best Web resources for education and research
located in the UK
By the Health On the Net Foundation. Click here to verify.# HON Conduct 282463 and is linked on the NIH
National Library of Medicine, Directory of Health Organizations (SIS) website, as well as the link for Patient
Information on The Diseases Database a cross-referenced index of human disease, and the Intute: health & life
sciences a free online service providing access to the very best Web resources for education and research
located in the UK
The MHE Research Foundation is proud to be working with the EuroBoNeT consortium, a European Commission
granted Network of Excellence for studying the pathology and genetics of bone tumors.
granted Network of Excellence for studying the pathology and genetics of bone tumors.
