Family Planning for Families Affected by Aicardi-Goutières Syndrome
Produced by the AGSAA - support@agsaa.org
Written by: Shannon Wieloch, MS, CGC and Devon Cordova
This FAQ addresses family planning, prenatal genetic testing, and pregnancy and neonatal evaluations for families affected by AGS. Our goal is to address diverse topics and scenarios from our global community. This living document will be adapted to your feedback and new information as it becomes available.
This guide is written in three sections:
We are here to share knowledge and expertise from Patient Advocate and Genetic Counselor, Shannon Wieloch, MS, CGC.
If you have a question or concern not discussed in this FAQ, please send it to support@agsaa.org.
Content Warning: This document includes information on reproductive options, pregnancy, and medical diagnoses. Some topics may be sensitive or triggering.
Please prioritize your mental and emotional well-being while reading and respect differing viewpoints.
PRIOR TO PREGNANCY
I had carrier screening in my previous pregnancy. Why was AGS not detected?
There are currently nine genes known to cause AGS. Many labs offer carrier screening (1) but the genes included on these panels differ from lab to lab. This is because a lot of factors are considered when labs decide which genes to include. Some genes known to cause AGS are on some carrier screening panels. However, even the largest carrier screening panels do not include every gene known to cause AGS.
I had non-invasive prenatal testing (NIPT) in my previous pregnancy. Why was AGS not detected?
Chromosomes are like “books” and genes are like the “words” in the books. Changes can happen in these "books," like having an extra copy of the whole book, having missing or extra chapters, or having misspelled words.
NIPT looks for changes in chromosomes, like Down syndrome, trisomy 18, and trisomy 13. Some labs also check for other chromosome issues, however, NIPT can’t find the specific gene changes that cause AGS. That is because NIPT isn’t designed to look for misspelled words, which is the most common genetic change that causes AGS.
I had chorionic villi sampling (CVS)/amniocentesis in my previous pregnancy. Why was AGS not detected?
CVS and amniocentesis are tests that can check for different genetic conditions like an extra or missing chromosome, an extra or missing piece of a chromosome, or a specific change in a gene on a chromosome. But to find a specific change in a gene, a lab needs to know exactly what to look for. If there wasn't a reason to think your baby might have AGS, such as a positive carrier screen for the parents or unusual findings on an ultrasound, then the test wouldn't look for AGS.
How do I know if I am a carrier of AGS?
If you don't have a family history of AGS:
You can do carrier screening at any time, but it's best to do it before getting pregnant. Many labs offer carrier screening and some of these tests include genes that can cause AGS. However, even the biggest carrier screens don't check for every gene that can cause AGS.
If you do have a family history of AGS:
If someone in your family is known to carry a genetic change in a gene that causes AGS, other family members can get tested for the same gene change. It's best to test all relatives at the same lab. If AGS runs in your family, talking to a genetic counselor can help you understand the chance of having a child with AGS, the pros and cons of carrier screening, and how to get tested.
I’m a carrier of AGS. What are the chances of having a child with AGS?
The chance of having a child with AGS depends on the genetic variant you carry, the gene it is in, and, most likely, whether your partner is also a carrier of a variant in the same gene. If you are a carrier of AGS, it is important for your partner to get carrier screening for AGS-associated genes, especially the gene you have a variant in.
This is because when a person has a negative carrier screen result, it means no variant was found, but there are limitations to this screening in that not every variant is always identified. Typically, AGS that is caused by mutations in the ADAR, TREX1, RNASEH2A, RNASEH2B, RNASEH2C, LSM11, RNU7-1, and SAMHD1 genes are inherited in an autosomal recessive manner.
Most likely:
AGS is usually inherited in an autosomal recessive way. This means that the AGS-associated gene from a person’s biological mother and father both have a disease-cause variant that leads them to not work correctly. With autosomal recessive AGS, people with a variant in only one copy of the gene usually don’t have symptoms of AGS. That said, some carriers have been documented to have symptoms of AGS, while some people with variants in both AGS-associated genes in a set have been reported not to have symptoms of AGS.
However, typically, if both parents are carriers of an autosomal recessive variant in the same AGS-associated gene, there is a one in four, or 25%, chance that their child will have AGS. If the parents carry variants in different AGS-associated genes, the chance of having an affected child is much lower, but not zero.
Each pregnancy is an independent event; the outcome of the last pregnancy does not impact the odds of which gene is passed on in the next pregnancy. So with every pregnancy, there is a 25% chance to have a child affected with AGS if each parent is a carrier.
Less likely:
AGS can sometimes follow autosomal dominant inheritance. This means that if just one gene in a set has a disease-causing variant, that is enough to cause a person to have symptoms of AGS. That said, some people with autosomal dominant AGS may not show symptoms. This is called reduced penetrance so it is said that the chance of passing on the affected gene is 50%; however, the chance of having an affected child is unknown as the current thought is that it may take more than a mutated gene to trigger the auto inflammatory response in a person’s body that causes the signs and symptoms of AGS. Mutations in the IFIH1 gene and certain severe mutations in the TREX1 or ADAR genes are inherited in an autosomal dominant pattern.
Neither I nor my partner are carriers of ags or just one of us is a carrier. How is our child affected with AGS?
Though uncommon, genetic variants that cause AGS can occur spontaneously. This is called a de novo variant and means that neither parent carries the gene change and passes it onto their child. It is a new change in the child who develops the syndrome.
If a child is identified to have a de novo mutation, the chance for the parents of that child to have another affected child is presumed to be slightly higher than the general population (though still <1%) because of the theoretical possibility of parental germline mosaicism.
Germline mosaicism means that some portion of the sperm or egg cells a person has have an AGS-associated mutation while other sperm or egg cells do not.
If I had another child with AGS, would they be affected in the same way as my first child?
Maybe, but we don’t know. Research has found that even siblings with the same genetic changes can show different symptoms. This suggests that other factors besides genes affect how the disease appears.
Is it my fault that my child has AGS?
No. AGS is caused by changes in certain genes and nothing you did caused these changes. Often, parents don’t know they are carriers of AGS until they have an affected child. In rare cases, the change causing AGS happens randomly. Again, it is not because of anything you did.
Do other family members have a chance to have a child with AGS?
Yes. If you have a change in a gene that causes AGS, your family members might have the same change. The chance of a relative having the same gene change is dependent on how they are related to you. If the genetic change you carry is known, your relatives can get genetic testing, specifically called family variant testing or targeted variant testing (2), to see if they have the same change.
It's important to tell your family if you have any genetic changes that could affect their health or the health of their children
How can other family members know if they are carriers of the genetic variant that caused my child to be affected if it is not on a carrier screen?
When a genetic change (variant) is found in one family member, other family members can get tested for the same variant. It's best to test all relatives at the same lab. Before getting pregnant, it is a good idea for family members to talk to a genetic counselor. The counselor can explain the chance of having a child with AGS, talk about the pros and cons of carrier screening, and help arrange the testing.
Is there any way I can prevent having another child affected with AGS?
No, but there are different ways to make the chance really small.
Adoption:
If you and/or your partner carry AGS-associated variants, you could choose to adopt. Though there is no guarantee that your adopted child will not have AGS, the risk would be similar to the general population risk.
Use donor sperm, egg, or embryo:
Using a sperm or egg donor who has had negative carrier screening, specifically for the AGS-associated gene you know you or your partner have a variant in, would reduce the risk of having a child with AGS, though the risk would not be zero. If the donor has not had carrier screening, many donor banks are willing to work with clients to have the donor tested, if asked. The risk for a donated embryo to have AGS would be similar to the general population risk.
Using your and your partner’s own sperm and egg with in vitro fertilization (IVF) and preimplantation genetic testing for single-gene conditions (PGT-M):
PGT-M is a screening test, meaning it is not 100% accurate and has a risk of a false-positive and false-negative result. PGT-M is discussed in detail below.
Use your and your partner’s own sperm and egg and pursue diagnostic prenatal testing: Chorionic villi sampling (CVS) and amniocentesis are the only two tests during pregnancy that can detect known family variants associated with AGS. These procedures are discussed in detail below.
Is there a way to know before conception if a child will be affected?
No. However, it may be possible to know if you and your partner have an increased chance of having a child with AGS. There are currently nine genes known to cause AGS. Some of these genes are on some carrier screening tests. However, even the largest carrier screening tests do not include every gene known to cause AGS.
If one of your relatives is a carrier of AGS, you can get tested for the same genetic change they carry. It’s a good idea to talk to a genetic counselor before you get pregnant. The counselor can explain the chances of having a child with AGS, talk about the pros and cons of carrier screening for the specific genetic change in your family and more expanded carrier screening options, and help arrange the testing.
Is it possible to know before pregnancy if a child will be affected?
Yes. If a future pregnancy has a higher chance of having AGS, an embryo sample can be checked for the genetic change(s) that cause AGS before placing it in the woman's uterus. This is done through a process called in vitro fertilization (IVF) with preimplantation genetic testing for single-gene conditions (PGT-M).
What testing would I have before pregnancy to know if an embryo is affected?
Two genetic tests before pregnancy that relate to AGS are carrier screening and preimplantation genetic testing for single-gene conditions (PGT-M).
Carrier screening:
Carrier screening is done to see if someone has a genetic change, or variant, that can cause a certain genetic condition. A person is usually called a carrier if they have one normal gene and one gene with a variant. Carriers don't usually have symptoms of the condition because they have one working copy of a gene in a set. However, if the other parent is also a carrier of a variant in the same gene, their children could have the disease. For AGS, the risk is usually 25%. Carrier screening can be done using a blood or saliva sample from the intended parent.
It's important to know that a negative carrier screen result lowers the risk of having a child with AGS, but it doesn't make it zero. This is because there are parts of DNA that can’t be tested that might have variants that can affect an AGS-associated gene's function. Also, some types of variants can’t be detected by carrier screening.
Different labs offer carrier screening panels, but the genes on these panels vary. Carrier screening can test for a single gene or hundreds of genes. Some genes known to cause AGS are on some carrier screening panels, but even the largest panels don't include every gene known to cause AGS.
Carrier screening before pregnancy can tell you if you have a higher or lower risk, compared to the general population, of having a child with AGS. If the risk is higher, you might use donor sperm, egg, or embryo. You might also choose to use your and your partner’s sperm and egg then do in vitro fertilization (IVF). After eggs are fertilized in a lab, a sample from the embryo can be tested for the known family AGS variant(s) via PGT-M. A low-risk embryo could then be transferred to the uterus to start a pregnancy. You could also conceive naturally and have either chorionic villi sampling (CVS) or amniocentesis during pregnancy to see if the baby inherited the genetic changes associated with AGS from both parents.
Talking to a genetic counselor is a good idea. They can explain the chances of having a child with AGS, discuss the pros and cons of carrier screening, and help arrange the testing.
PGT-M:
PGT-M is a way to help reduce the risk of passing on inherited conditions like AGS. It is done after IVF to look for parental AGS variants in a few cells from the embryo. PGT-M involves several steps. First, the specific AGS genetic change(s) in the family must be confirmed, usually by testing the intended parents and their parents. Then, a special test for the embryo is designed. After that, a couple can start the IVF process. A few days after fertilization, about five to ten cells are taken from the embryo and sent to the lab for testing while the rest of the embryo is frozen. If the results show that an embryo sample does not have the family variant(s), it can be transferred into the uterus.
Things to know about PGT-M:
PGT-M is a screening test and is not 100% accurate.
PGT-M for AGS will only give information about an embryo’s risk to have AGS and will not look for other genetic conditions.
Preimplantation genetic testing for aneuploidy (PGT-A) is often done at the same time to check if the embryo sample has the correct number of chromosomes. The risk of chromosome changes is unrelated to a couple's risk of having a child with AGS.
Talking to a genetic counselor who works in the field of PGT before starting IVF is highly recommended. They can explain each step, review the benefits and limitations of PGT-M, discuss the timeline, and help coordinate the process.
Is preimplantation genetic testing (PGT) 100% accurate?
No. There are different types of PGT and all types are considered screening tests. Diagnostic testing options are only available during pregnancy through chorionic villi sampling (CVS) and amniocentesis, and after pregnancy through molecular genetic testing.
The main difference between a screening and diagnostic test is the purpose of the test. Screening tests are primarily used for early detection of disease or risk factors whereas diagnostic tests are used to establish the presence or absence of disease. Screening tests are often done among people without symptoms who may have a higher risk of developing a disease.
Do I need to do in vitro fertilization (IVF) to do preimplantation genetic testing (PGT)?
Yes. PGT always requires IVF.
How is preimplantation genetic testing (PGT) done?
There are many types of PGT methods. All forms require the use of in vitro fertilization (IVF) to create an embryo for testing. PGT can’t be done on a naturally conceived embryo. Each type of PGT can be done as a stand-alone test or with other forms of PGT.
Preimplantation genetic testing for aneuploidy (PGT-A) checks if the embryo sample has the correct number of chromosomes. Having too many or too few chromosomes is called aneuploidy. Examples of aneuploidy are Down syndrome, trisomy 18, and Turner’s syndrome. The risk for aneuploidy goes up as the mother gets older. It can also be higher if someone in the family has a history of chromosome changes. Aneuploidy is not related to the risk of having a child with AGS.
With preimplantation genetic testing for single-gene disorders (PGT-M), the first step is to identify the specific AGS genetic change(s) in the family. This typically involves testing the intended parents and their parents. Then, a special test is designed for the embryo. After that, the couple can start the IVF process. A few days after fertilization, about five to ten cells are taken from the embryo and sent to the lab for testing while the rest of the embryo is frozen. If the results show that an embryo sample does not have the family variant(s) associated with AGS, that embryo can be transferred into the uterus.
How long does in vitro fertilization with preimplantation genetic testing take?
Every case is different, though the overall process can take approximately three to six months.
How much does in vitro fertilization with preimplantation genetic testing cost?
Again, every case is different. Factors that impact the cost of the process include the fertility clinic used, their specific protocols, and which treatments are pursued. In general, the cost can range from $18,000 to $34,000.
Does insurance cover in vitro fertilization with preimplantation genetic testing?
Some insurance plans may cover part of the IVF cost. It's important to check with your insurance provider to understand what is covered.
Many fertility clinics also offer financing plans to help manage the costs.
Finally, there are specialized fertility financing companies that provide loans specifically for IVF and related treatments.
DURING PREGNANCY
What type of specialists would I see during my pregnancy?
What specialists you see depends on your pregnancy journey.
Using Donor Sperm, Egg, or Embryo:
Fertility Clinic Staff: This may include a reproductive endocrinologist (a doctor who helps with fertility), nurses, embryologists (scientists who work with embryos), sonographers (people who do ultrasound scans), and lab technicians (who work behind the scenes).
Later Pregnancy Care: After becoming pregnant, you will likely see your regular OBGYN (a doctor for women's health, especially pregnancy).
Preimplantation Genetic Testing (PGT):
All the Specialists Above: If you use donor sperm, egg, or embryo, you will see all the specialists mentioned.
Genetic Counselors: This healthcare professional explains genetic testing and what the results could mean.
Natural Conception with Prenatal Diagnostic Testing:
OBGYN: This doctor is seen for regular pregnancy care.
Maternal Fetal Medicine Doctor (Perinatologist): You would see this specialist for specific tests like chorionic villus sampling (CVS), amniocentesis, and detailed ultrasounds.
How do you test for AGS during pregnancy?
Two diagnostic tests during pregnancy can confirm if your baby inherited the familial AGS-causing variant(s). Each:
Are diagnostic, with an accuracy of >99%
Have an associated risk of miscarriage
Requires that the familial AGS variants be known prior to testing
Can include additional testing, such as chromosome analysis or chromosome microarray analysis
Chorionic villi sampling (CVS):
The cells that make up the placenta are from the same source of cells that make up the embryo. Done between 11-13 weeks of pregnancy, CVS involves obtaining a small sample of the placenta, specifically the chorionic villi, and testing the genetic material within those cells. The procedure is done either by inserting a small catheter into the vagina or inserting a thin needle through the abdomen. Both are done under ultrasound guidance. The risk of miscarriage after the procedure is estimated to be between 1 per 100 to 1 per 200, or 0.5% and 1.0%.
Amniocentesis:
The cells in the amniotic fluid are cells that come from the embryo and amniotic membrane. Done after 16 weeks of pregnancy, an amniocentesis involves obtaining a small sample of amniotic fluid and testing the genetic material within the amniotic cells. This procedure is done by inserting a thin needle through the abdomen under ultrasound guidance. The risk of miscarriage after the procedure is estimated to be between 1-3 per 1000, or 0.1% and 0.3%.
Is there anything that can be seen on a prenatal ultrasound to diagnose AGS?
Currently, there are no specific signs on prenatal imaging like ultrasound, MRI, or CT scans that can definitively show a baby has AGS. However, some findings may be seen in the second trimester or later that could suggest an increased risk for AGS. It’s important to know that they could also indicate a number of other genetic and non-genetic conditions.
Areas of calcium build up in the brain (ultrasound or MRI)
Enlargement of the brain’s fluid-filled spaces (ultrasound or MRI)
Changes in the brain’s white matter (MRI)
Shrinkage of brain tissue (MRI)
Underdevelopment or shrinkage of the cerebellum, which is the portion of the brain that is involved in movement and coordination (ultrasound or MRI)
Brain cysts (ultrasound or MRI)
Small head size
Slow overall growth
These findings can vary in severity and may not be present in all cases. If there is a suspicion of AGS based on findings through prenatal imaging, genetic counseling and additional genetic testing, such as a multi-gene panel (3), whole exome sequencing (4), or whole genome sequencing (5), should be recommended.
I am pregnant and have found out that my child has AGS. what can I do to prepare before their birth?
There are several ways you can prepare for the birth of your child.
Talk with your OBGYN to optimize your delivery plan, ensuring that where you deliver has a neonatal intensive care unit and easy access to appropriate health care providers.
Learn about AGS to better educate your current and your child’s future medical team and to best advocate for their care.
Meet with the specialists who will be caring for your child. Ideally, your child’s care would be through a Leukodystrophy Center which can coordinate visits with the specialists your child will need to see.
Start modifying your home to accommodate your child’s needs.
Research government programs, including Medicaid, to help with the financial aspect of care.
Connect with parents and other care providers who have experience raising children with AGS.
If my child was diagnosed in Utero, Would it help if I took baricitinib during pregnancy?
No. In fact, baricitinib is not recommended during pregnancy. Scientists have studied this drug using animals and found it can harm developing pregnancies when doses exceeding seven times the human limit were used. Adverse outcomes included birth defects of the skeletal system, low birth weights, and a higher rate of embryo loss, There is limited research on the use of baricitinib in pregnant women, therefore the risk of adverse drug-associated outcomes remains unknown in humans.
AFTER PREGNANCY
What are my options if I did not pursue preimplantation genetic or prenatal diagnostic testing and my child has an increased risk to be affected with AGS?
Act now. Better yet, plan ahead.
A growing body of research supports that earlier diagnosis with earlier treatment may lead to a better prognosis.
Talk with your OBGYN so you are put in contact with your local genetics department to ensure genetic testing immediately after birth. Since the onset of symptoms in those affected with AGS can vary, it is not recommended to wait until the first signs or symptoms appear to seek a clinical genetic evaluation or to pursue genetic testing to confirm a diagnosis.
Umbilical cord blood can be used for genetic testing to avoid a blood draw for your newborn.
The time it takes to receive the results of genetic testing depends on what test is ordered. If there is a suspicion for AGS based on family history, results from single gene testing take approximately three weeks. If variants in AGS-associated genes have been identified in your family, be sure to share those results with the genetics department you work with to simplify test ordering.
If there is a suspicion of AGS based on ultrasound findings, the clinical team may order whole exome or genome sequencing in order to cast a wider diagnostic net. This is because what is seen on ultrasound could be due to another genetic condition that would be missed by only testing AGS-associated genes. Results from these tests take approximately five to seven weeks, though rapid or express testing can be ordered with a turn around time of approximately two weeks.
Is AGS part of newborn screening?
Not yet.
There are many steps to developing a newborn screening (NBS) program for a disorder and the AGSAA has partnered with the Vanderver lab at the Children’s Hospital of Philadelphia (CHOP) to make it a reality.
For detailed information about this process, visit https://agsaa.org/nbs.
If you want your child to be a part of the effort to bring AGS to NBS, contact info@agasaa.org to let us know you want to participate. Simply provide your child’s name, age, and place of birth and we’ll verify your localities NBS card retention policies and connect you with CHOP.
ADDITIONAL RESOURCES
How to Schedule an Appointment with a Reproductive Genetic Counselor
To schedule an appointment with a reproductive genetic counselor, please visit www.storkgenetics.com. Shannon Wieloch, MS, LCGC is a part-time Patient Advocate for the AGSAA and a certified genetic counselor. She is licensed to see patients in multiple states. Information on how to schedule an appointment with her and the cost of an appointment can be found at www.storkgenetics.com.
Please note, the AGSAA is not responsible for covering the cost of her genetic counseling services. Should you elect to schedule an appointment with her, you would be responsible for the cost of that appointment.
Find a pediatric genetic counselor
https://findageneticcounselor.nsgc.org/
Find a doctor
https://agsaa.org/find-a-doctor
Message us at support@agsaa.org if you have additional questions!
How Aicardi-Goutières syndrome impacts different organ systems
Aicardi-Goutières syndrome (AGS) is commonly characterized by effects on the following three areas of the body
The brain
AGS is a progressive disease of the brain that commonly results in profound developmental delay, significant intellectual disability, stiff and tight muscles, involuntary muscle contraction, weak muscle tone, increased irritability, and seizures. Some of the signs of this syndrome include a small head, brain calcifications in the basal ganglia and other changes in white matter, excess lymphocytes (a type of white blood cell) in the cerebrospinal fluid (CSF) and increased interferon-alpha (a chemical messenger) made by the immune system in the CSF and the blood.
The immune system
In every body, DNA and RNA are broken down to be recycled. This is supposed to happen. But with AGS, this material either accumulates or is improperly sensed. This then leads to an overproduction of type 1 interferons. Having interferons is a good thing. They are a part of the immune system that helps fight invading or foreign material. But in AGS, too much interferon production results in a person’s own body becoming a target. When one’s immune system attacks one’s own body systems in this manner, symptoms of AGS develop.
The skin
About 40 percent of people with AGS have painful, itchy skin lesions, usually on the fingers, toes, and ears. These puffy, red lesions, which are called chilblains, are caused by inflammation of small blood vessels. They may be brought on or made worse by exposure to cold.
But as we continue to research this condition, we learn more about AGS and the other systems that can be affected to various degrees.
Other systems
The immune dysfunction discussed above can affect a number of different organs of the body, sometimes in a life-threatening manner. These include the eyes (glaucoma and cortical visual impairment), thyroid (hypothyroidism), lungs (pulmonary hypertension), heart (cardiomyopathy), joints (stiffness), liver (autoimmune hepatitis), and muscles (myopathy). Symptoms in one person affected by AGS can be vastly different from symptoms in another person. Research is on-going to understand why this happens and how to alleviate the impactful nature of this disease.
How the genes known to cause AGS affect symptoms of the disease
Research is finding that having certain genes (genotype) doesn't always mean a person will have the same symptoms (phenotype) when it comes to AGS.
The Big Picture:
Aicardi-Goutières Syndrome (AGS) is a genetic condition that can cause problems in many parts of the body. Because it affects people in so many different ways, it can be hard for doctors to figure out that someone has AGS and to tell families what to expect in the future.
Clinical Presentation (Phenotype):
Doctors diagnose AGS by looking for certain signs and symptoms. These can include problems with brain function, small head size, learning and movement difficulties, stiff muscles, a larger liver and spleen, unexplained fevers, and red or purple spots on the skin. They also use special brain scans to look for specific changes in the brain. Additionally, finding certain changes in genes can help confirm the diagnosis.
Genes (genotype):
AGS happens because of changes in one of nine specific genes. These changes cause the body to react in a certain way, called a type I interferon response. However, just having these gene changes does not determine all the symptoms a person will have. Different types of AGS share some common features, but other factors like when the symptoms start and how soon treatment begins also affect a patient's experience with AGS.
TREX1
RNASEH2B
RNASEH2C
RNASEH2A
SAMHD1
ADAR
IFIH1
LSM11
RNU7-1
Current Research:
Recent research has found that even brothers and sisters with the same genetic changes can show different symptoms. This suggests that other factors besides genes affect how the disease appears.
Figuring out what causes AGS to start and how severe it becomes is very important. This helps us understand the disease better and take better care of patients.
APPENDIX
(1) At the time of this writing, carrier screening panels are available at a number of laboratories. Please note that this is not an all-inclusive list, that no panel contains every gene known to be associated with AGS, and that the AGSAA does not personally endorse one panel over another.
Fulgent Genetics
LabCorp
Natera
Ambry
Baylor Genetics
Myriad
(2) Family variant testing (FVT) or targeted variant testing (TVT) is best done for all family members at the laboratory that identified the first AGS-associated variant in the family. It is important to not only inform family members of the affected gene but the specific variant so it can be looked for in your relatives. If this is not possible, multiple labs can conduct FVT including:
Blueprint Genetics
GeneDx
(3) At the time of this writing, AGS multi-gene panels are available at a number of laboratories. Please note that this is not an all-inclusive list, that no panel contains every gene known to be associated with AGS, and that the AGSAA does not personally endorse one lab over another.
Blueprint Genetics
GeneDx
Prevention Genetics
(4) The pieces of a person’s DNA that provide instructions for making proteins, which in turn make our bodies work properly, are called exomes. Whole exome sequencing is a test that makes sure all the instructions are spelled correctly. This means that changes can be looked for in all of a person’s genes in one test, instead of just looking for changes in a few genes. The exome is thought to make up just one percent of a person's genome.
(5) Most known genetic changes that cause disease occur with the exome. However, there can be genetic changes that occur outside of them that affect the function of a gene. These changes would be missed with WES. Whole genome sequencing (WGS), is another test method that looks for genetic variants in the remaining part of the genome.