Genetics and Genomic Medicine | CLINICS
Why did my doctor refer me to Adult Genetics Clinic?
In our Adult Genetics Clinic, genetic services are available for
adults who have, or are at risk for having, a genetic condition.
The Adult Genetics Clinic provides:
- Genetic evaluations
- Management recommendations
- Diagnostic and presymptomatic genetic testing
- Genetic counseling
- Recurrence risk assessment for family members
- Information about reproductive options
Potential reasons for adult genetic counseling and evaluation
include:
Why is a genetic diagnosis important?
A genetic diagnosis can help clarify your long-term prognosis,
identify specific medical issues that warrant further screening, and
provide information about the chance that other family members,
including your children, could have a similar medical problem.
For some people, finding out that they have a genetic diagnosis is
frightening and sad, while for other people a diagnosis may come as
a welcome relief after years of not knowing what was medically
wrong. For some families, disease-specific support groups can
be very helpful to network with other families who face similar
challenges and medical concerns. Our office can help put you
in touch with both national and local support groups.
Where do I go for my visit to Adult Genetics Clinic?
The Adult Genetics Clinic meets in Suite C on the eighth floor of
the Center for Advanced Medicine (link to Center for Advanced
Medicine Directions and Map). You may park in the Parking Garage
across the street from the Center for Advanced Medicine.
Please arrive at least 15 minutes prior to your scheduled
appointment time. Many people find it helpful to bring a
family member or close friend to the appointment for support and to
help remember all the information that may be provided.
What will occur during my visit to Adult Genetics Clinic?
Depending on the reason for the visit, the visit may begin by
measuring your vital signs, including weight, height, pulse, and
blood pressure. You will meet with a genetic counselor or a
genetics fellow. This individual will review your medical
history and family tree. Depending on the reason for referral,
a physical examination may be performed. If you have recently
been diagnosed with a genetic condition, a genetic counselor will
talk with you about what the condition is, how it is inherited, and
how it is treated.
The genetic counselor or genetics fellow will discuss the history
and examination with the attending geneticist, Dr. Alison Whelan.
You will then meet Dr. Whelan, and she will briefly review the
medical and family history, ask additional questions, and may
perform a physical examination. Dr. Whelan will then provide
her assessment, answer your questions and concerns, and discuss the
recommendations for additional evaluations or treatment that may be
indicated.
The genetic evaluation and/or counseling can last one hour or
longer, depending on the nature and complexity of the case.
Please feel free to ask any questions that you have during the
clinic visit.
What types of laboratory tests and medical studies may be
recommended?
Based on the medical and family history and the physical
examination, further testing may be indicated. The most common
tests are done on blood and urine and can usually be obtained the
same day. Sometimes Dr. Whelan may recommend X-rays,
ultrasounds or other imaging studies, or a referral to another
specialist. If you desire, our office staff will schedule the
studies or appointments and will try to coordinate them with other
visits to the hospital. We will contact you with the results
of any tests or studies once they are completed.
Who will I meet in Adult Genetics Clinic?
Niki Armstrong, MS, CGC
Genetic Counselor
Jennifer Ivanovich, MS, CGC
Genetic Counselor
Linda Piersall, MS, CGC
Genetic Counselor
Alison Whelan, MD
Geneticist, Internist
Where can I go for additional information?
St. Louis Children’s Hospital Medical Genetics Health Information
Home Page
www.stlouischildrens.org/tabid/88/itemid/1160/Home-Page--Medical-Genetics.aspx
Alliance of Genetic Support Groups
www.geneticalliance.org
General Pediatric Genetics ClinicWhy did my doctor refer my child to a Genetics Clinic?
A child is usually referred to Pediatric Genetics Clinic because a
primary care physician or other healthcare provider is concerned
that the child’s medical problems may be due to an underlying
genetic condition. We evaluate children with a variety of
medical problems, including birth defects (problems that the child
is born with), a suspected genetic syndrome, short stature, poor
weight gain (failure to thrive), hearing loss, developmental delays,
and mental retardation. Sometimes children are seen because
they are known to have a family history of a genetic or inherited
condition. Your child’s physician may have already performed a
laboratory test which identified an abnormality or change that
requires further evaluation. Physicians in our clinic help
interpret those results and make recommendations for additional
evaluations or treatment that may be indicated.
Why is a genetic diagnosis important?
A genetic diagnosis can help clarify your child’s long-term
prognosis, identify specific medical issues that warrant further
screening, and provide information about the chance that you could
have another child with a similar medical problem. For some
people, finding out that their child has a genetic diagnosis is
frightening and sad, while for others a diagnosis may come as a
welcome relief after years of not knowing what was medically wrong
with their child. For some families, disease-specific support
groups can be very helpful to network with other families who face
similar challenges and medical concerns. Our office can help
put you in touch with both national and local support groups.
What will occur during my visit to Pediatric Genetics Clinic?
At the beginning of the visit, your child’s weight, height, and head
circumference will be measured. You will meet with a genetic
counselor, a genetics fellow, or a resident physician who will
review your child’s medical history and family tree and perform a
physical examination. If you or your child has recently been
diagnosed with a genetic condition, a genetic counselor will talk to
you about what the condition is and how it is inherited.
The genetic counselor or physician-in-training will discuss the
history and examination with the attending geneticist, the physician
who is listed on the patient letter that you received from our
Genetics Office. You will then meet the attending geneticist who
will briefly review the medical and family history, ask additional
questions, and perform a physical examination. The attending
physician will provide his or her assessment of your child, answer
your questions and concerns, and discuss our recommendations for
additional evaluations or treatment that may be indicated.
For new patients, the clinic visit will last approximately 1½ hours.
During the visit it is very important that you feel free to ask any
questions that you may have. We recommend that you write your
questions down prior to the visit so that you do not forget to ask
them.
What types of laboratory tests and medical studies may be
recommended?
Based on the medical and family history and the physical examination
findings, further testing may be indicated. The most common
tests are done on blood and urine and can usually be done the same
day. These tests may include chromosome analysis (karyotype,
FISH analysis, or microarray analysis), biochemical testing, and
molecular DNA testing (for more information, click here ).
Sometimes the doctor may recommend X-rays, ultrasounds or other
imaging studies, or a referral to another specialist. If you
desire, our office staff will schedule the studies or appointments
and will try to coordinate them with other visits to the hospital.
We will contact you with the results of any tests or studies once
they are completed.
Who will I meet in Pediatric Genetics Clinic?
Niki Armstrong, MC, CGC
Genetic Counselor
Dorothy K. Grange, MD
Geneticist
Tracy McGregor, MD
Genetics Resident
Thomas Morgan, MD
Geneticist
Linda Piersall, MS, CGC
Genetic Counselor
Tyler Reimschisel, MD
Geneticist and Child Neurologist
Laurie Sprietsma, RD, LD
Metabolic Dietician
Alison Whelan, MD
Geneticist
Where can I go for additional information?
St. Louis Children’s Hospital Medical Genetics Health Information
Home Page
www.stlouischildrens.org/tabid/88/itemid/1160/Home-Page--Medical-Genetics.aspx
Alliance of Genetic Support Groups
www.geneticalliance.org
Washington University School of Medicine has two Marfan Syndrome
Clinics, one for children and one for adults. The Pediatric
Marfan Clinic at St. Louis Children’s Hospital and the Marfan
Syndrome Clinic at Washington University School of Medicine and
Barnes-Jewish Hospital at the Center for Advanced Medicine are both
staffed by a team of Marfan syndrome experts.
What is Marfan syndrome?
Marfan syndrome is a genetic disorder of the connective tissues.
It can affect several organ systems, including the heart, blood
vessels, skeleton, joints, eyes, and lungs. Marfan syndrome
affects men, women, and children. Approximately 1 in 5000
people in the United States has Marfan syndrome. Features of
Marfan syndrome include abnormal enlargement of the aortic root of
the heart, dislocation of the lens of the eye, scoliosis and tall
stature with long arms and legs and long flat feet.
Some people have only mild symptoms while others have more severe
problems. Frequently an individual, especially a child or
teenager, may have several characteristics of Marfan syndrome, but
not enough characteristics to make the diagnosis of Marfan syndrome.
In that situation, the person is followed over time to see if other
characteristics develop.
Why is a genetic diagnosis important?
Making the diagnosis of Marfan syndrome is very important, as any
individual who has Marfan syndrome needs to have their heart,
vision, and skeletal system followed closely throughout their life.
In some cases, appropriate interventions can be life-saving.
About 75% of individuals with Marfan syndrome have a family history
of the condition while about 25% of individuals with Marfan syndrome
are the first person in their family to have the condition.
This syndrome is due to an abnormality in a gene called fibrillin-1.
Every person has two copies of the fibrillin-1 gene. Marfan
syndrome is an autosomal dominant condition and can affect multiple
individuals within a family. Therefore, when one individual in
the family is diagnosed with Marfan syndrome, other members of the
family often need to be evaluated for features of the syndrome.
What will occur during my visit to the Marfan Syndrome Clinic?
The diagnosis of Marfan syndrome is made by reviewing the family
history and performing a clinical evaluation of a person’s heart,
eyes, and skeletal system. The heart is evaluated by an
ultrasound called an echocardiogram. The eyes are examined by
an ophthalmologist familiar with Marfan syndrome. The skeletal
system is examined by making various measurements during a physical
examination.
During a typical visit to the Marfan Syndrome Clinic, you will have
an echocardiogram and eye examination. If you have had a
recent echocardiogram or eye examination, it may not need to be
repeated. The person that schedules your appointment will let
you know if you need to have another eye examination or
echocardiogram. If you recently had an echocardiogram,
we may want to review a video copy of the actual study.
You will meet with both the a cardiologist and a geneticist during
the visit. The visit starts with obtaining the person’s
weight, height, pulse, and blood pressure. You will then meet
with a genetic counselor, a fellow, or a resident physician.
This individual will review your medical history and family tree and
perform a physical examination.
The genetic counselor or physician-in-training will discuss the
history and examination with the attending cardiologist and
geneticist. You will then meet the attending physicians who
will briefly review the medical and family history, ask additional
questions, and perform a physical examination. This physical
examination includes a number of measurements to assess body
proportions to help determine if the person has Marfan syndrome.
The attending physician will provide his or her assessment of the
patient, answer your questions and concerns, and discuss our
recommendations for additional evaluations or treatment that may be
indicated.
Some people may also see other specialists during their visit, such
as an orthopedic surgeon (bone doctor) or cardiothoracic surgeon
(heart surgeon). Each person’s visit to the Marfan syndrome
clinic is different because it is tailored to his or her needs.
What types of laboratory tests or medical studies may be
recommended?
If you have not had an echocardiogram and an eye examination by an
ophthalmologist prior to your visit and do not have these studies on
the day of your visit with us, they will be recommended. In
addition, we often recommend that other members of the family have
these studies. Occasionally, blood work or urine studies may
be done to look for conditions that are similar to Marfan syndrome.
In some situations, genetic testing may be suggested. Your
doctors will discuss with you any additional studies that may be
needed. They will also provide recommendations for other
family members.
Who will I meet during my visit?
The Marfan Syndrome Clinic at Washington University School of Medicine and
Barnes- Jewish Hospital is staffed by:
Alan Braverman, MD
Director, Marfan Syndrome Clinic at WUSM and Barnes-Jewish Hospital
Cardiologist
Niki Armstrong, MS, CGC,
Genetic Counselor
Keith Bridwell, MD
Orthopedic Surgeon and Spine Specialist
Larry Lenke, MD
Orthopedic Surgeon and Spine Specialist
Marc Moon, MD
Cardiac Surgeon
Alison Whelan, MD
Geneticist
Barnes Retina Institute ophthalmologists
To schedule an appointment in the Adult Marfan Center, please call
314-362-1291, and ask for Dana Gima, RN or Barb Stehman, RN.
The Pediatric Marfan Syndrome Clinic is staffed by:
Angela Sharkey, MD,
Director, Pediatric Marfan Syndrome Clinic
Cardiologist
Niki Armstrong, MS, CGC,
Genetic Counselor
Dorothy K. Grange, MD,
Geneticist
Pediatric Orthopedic Surgery
Pediatric ophthalmology
To schedule an appointment in the Pediatric Marfan Syndrome Clinic,
please call Pediatric Cardiology at 314-454-6095.
Where can I go for more information?
St. Louis Children’s Hospital Marfan Syndrome Health Information
Washington University School of Medicine: Marfan Syndrome
Barnes-Jewish Hospital Marfan Syndrome Center
Marfan Syndrome Genetics
National Marfan Foundation
What is a metabolic disorder?
Metabolism is the body’s way of taking all the nutrients that we get
from foods and breaking them down into smaller particles to be used
for energy or to build new proteins, carbohydrates, and fats.
The body uses proteins called enzymes to break down nutrients into
smaller particles. There are thousands of enzymes in the human
body that participate in metabolism every day. If one of these
enzymes is not working well or is missing because of a genetic
defect, the individual will have what we call a metabolic disorder.
In some metabolic disorders, nutrients that are not broken down can
build up in the body to toxic levels and cause disease. In
other metabolic disorders, the defective enzyme prevents the
production of energy, and the person becomes ill from insufficient
energy.
There are hundreds of different metabolic disorders, each resulting
from a defective enzyme. Some of the more common metabolic
disorders include:
- Fatty Acid Oxidation Disorders, such
as MCAD, VLCAD, and LCHAD deficiencies
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- Galactosemia
- Maple Syrup Urine Disease (MSUD)
- Organic Acidurias, such as propionic
acidemia and methylmalonic acidemia
- Phenylketonuria (PKU) (link to
webpage)
- Urea Cycle Disorders
Why is a genetic diagnosis important?
For many metabolic disorders, early identification of the disorder
and prompt initiation of treatment is vital to ensure the best
possible outcome. Treatment typically includes a highly
specialized diet and medications that help to prevent the medical
complications associated with a particular metabolic disorder.
A diagnosis may also help identify specific medical issues that
warrant further evaluation and provide information about your
chances of having another child with the same disorder. For
some people, finding out that their child has a metabolic disorder
is frightening and sad, while for other families a diagnosis may
come as a welcome relief after years of not knowing what was
medically wrong with their child. For some families,
disease-specific support groups can be very helpful to network with
other families who face similar challenges and medical concerns.
Our office can help put you in touch with both national and local
support groups.
What will occur during my visit to the Metabolic Clinic?
At the beginning of the visit, your child’s weight, height, and head
circumference will be measured. You will then meet various
members of our staff. A metabolic dietitian will review your
child’s current diet. A genetics fellow or a resident
physician will review your child’s medical history and family tree
and perform a physical examination. If the patient has
recently been diagnosed with a metabolic disorder, a genetic
counselor will talk to you about what the condition is and how it is
inherited.
The staff will discuss the history and examination with one of the
metabolic geneticists, Dr. Dorothy K. Grange or Dr. Tyler
Reimschisel. You will then meet the metabolic geneticist, and
she or he will briefly review the medical and family history, ask
additional questions, and perform a physical examination. We
will provide our assessment of your child, answer your questions and
concerns, and discuss our recommendations for additional evaluations
or treatment that may be indicated.
For new patients, the clinic visit will last approximately 1½ hours.
During the visit it is very important that you feel free to ask any
questions that you may have. We recommend that you write your
questions down prior to the visit so that you do not forget to ask
them.
What types of labs and studies may be recommended?
Based on the medical and family history and the physical examination
findings, further testing may be indicated. The most common
tests are done on blood and urine and can usually be done the same
day. These tests determine how the patient metabolizes protein
(amino acids and ammonium levels in the blood and organic acids in
the urine), carbohydrates (glucose, lactate, and pyruvate levels in
the blood), and fat (acylcarnitine profile and quantitative
carnitine levels in the blood, and possibly in the urine) (click
here for more information ).
Sometimes the doctor may recommend X-rays, ultrasounds or other
imaging studies, or a referral to another specialist. If you
desire, our office staff will schedule the studies or appointments
and will try to coordinate them with other visits to the hospital.
We will contact you with the results of any tests or studies once
they are completed.
Who will I meet in the Metabolic Clinic?
Niki Armstrong, MS, CGC
Genetic Counselor
Dorothy K. Grange, MD
Geneticist
Linda Piersall, MS, CGC
Genetic Counselor
Tyler Reimschisel, MD
Biochemical Geneticist and Child Neurologist
Laurie Sprietsma, RD, LD
Metabolic Dietician
Where can I go for more information on metabolic disorders?
St. Louis Children’s Hospital Medical Genetics Health Information
Home Page
Alliance of Genetic Support Groups
Fatty Oxidation Disorders Family Support Group
Maple Syrup Urine Disease Family Support Group
National Organization for Rare Disorders
National Urea Cycle Disorders Foundation
Organic Acidemia Association
Parents of Galactosemic Children, Inc
The Rare Diseases Community
What is the Neurogenetics Clinic?
In Neurogenetics Clinic a child or adult with a neurologic problem
is evaluated to determine if the problem is due to an underlying
genetic condition. Individuals with a variety of neurologic
problems are evaluated in this Clinic, including global
developmental delay, mental retardation, epilepsy (recurrent
seizures), cerebral palsy, ataxia (incoordination), hypotonia (low
muscle tone), loss of developmental skills (regression), movement
disorders (dystonia, parkinsonism, choreoathetosis, tremor),
strokes, muscle diseases, and leukodystrophies. We see
individuals in this Clinic if they have a family history of a
genetic condition that can cause neurologic problems.
Individuals with a known neurogenetic disorder can also be seen in
this Clinic in order for the family to obtain additional information
regarding the disease.
Why is a genetic diagnosis important?
A genetic diagnosis can help clarify you or your child’s long-term
prognosis, identify specific medical issues that warrant further
screening, and provide information about the chance that you could
have another child with a similar medical problem. For some
people, finding out that their child has a genetic diagnosis is
frightening and sad, while for others a diagnosis may come as a
welcome relief after years of not knowing what was medically wrong
with their child. For some families, disease-specific support
groups can be very helpful to network with other families who face
similar challenges and medical concerns. Our office can help
put you in touch with both national and local support groups.
What will occur during my visit to Neurogenetics Clinic?
At the beginning of the visit, you or your child’s weight, height,
and head circumference will be measured. You will meet with a
genetic counselor, a genetics fellow, or a resident physician.
This individual will review your medical history and family tree and
perform a physical examination. If you or your child has
recently been diagnosed with a genetic condition, a genetic
counselor will talk to you about what the condition is and how it is
inherited.
The genetic counselor or physician-in-training will discuss the
history and examination with Dr. Tyler Reimschisel, a
board-certified child neurologist, biochemical geneticist, and
pediatrician. Dr. Reimschisel will then briefly review the
medical and family history with you, ask you additional questions,
and perform a physical examination. He will provide his
medical assessment, answer your questions and concerns, and discuss
his recommendations for additional evaluations or treatment that may
be indicated.
For new patients, the clinic visit will last approximately 1½ hours.
During the visit it is very important that you feel free to ask any
questions that you may have. We recommend that you write your
questions down prior to the visit so that you do not forget to ask
them.
What types of laboratory tests and medical studies may be
recommended?
Based on the patient’s age, specific neurologic problem, and
additional medical problems, additional evaluations are usually
recommended to try to identify an underlying genetic disorder.
The most common tests are done on blood and urine and can usually be
done the same day. These tests may include chromosome analysis
(karyotype, FISH analysis, or microarray analysis), biochemical
testing, and molecular DNA testing (for more information, click here ).
A brain MRI is commonly recommended if one has not already been
completed. A brain MRI is a picture of the brain that can
provide information about the cause of an individual’s neurologic
problem. Since the eye and brain develop from the same
embryonic tissue, we usually recommend that the patient have an
ophthalmology evaluation because an abnormality identified in the
eye could provide invaluable insight into the underlying cause for
the neurologic problem. Occasionally, we may also recommend an
electroencephalogram (a brain wave test), an electromyelogram
(muscle test), a nerve conduction study, or a lumbar puncture
(spinal tap). We may also recommend an evaluation by another
specialist, such as an expert in epilepsy, a developmental
pediatrician, or a psychiatrist.
If you desire, our office staff will schedule the studies or
appointments and will try to coordinate them with other visits to
the hospital. We will contact you with the results of any
tests or studies once they are completed. If any of the
results are abnormal, then a prompt follow up appointment in
Neurogenetics Clinic will be scheduled in order for us to review the
result with you and to discuss any additional evaluations or
treatment that may be indicated.
Who will I meet in Neurogenetics Clinic?
Niki Armstrong, MS, CGC
Genetic Counselor
Linda Piersall, MS, CGC
Genetic Counselor
Tyler Reimschisel, MD
Biochemical Geneticist and Child Neurologist
Where can I go for additional information?
St. Louis Children’s Hospital Medical Genetics Health Information
Home Page
Alliance of Genetic Support Groups
National Organization for Rare Disorders
PKU ClinicWhat is Phenylketonuria (PKU)?
Metabolism is the body’s way of taking all the nutrients that we get
from foods and breaking them down into smaller particles to be used
for energy or to build new proteins, carbohydrates and fats.
The body uses proteins called enzymes to break down nutrients into
smaller particles. There are thousands of enzymes in the human
body that participate in metabolism every day. If one of these
enzymes is not working well or is missing because of a genetic
defect, the individual will have what we call a metabolic disorder.
Phenylketonuria (PKU) is one of these metabolic disorders. It
is a disorder of breaking down protein. Phenylalanine is an
amino acid that is part of all the protein found in foods.
Normally, phenylalanine is changed into tyrosine (another amino
acid) by an enzyme in the body called phenylalanine hydroxylase.
However, for people with PKU, this enzyme does not work
appropriately. If untreated, phenylalanine builds up in the
body and causes mental retardation and other medical problems.
Treatment for PKU consists of a special diet that is low in
phenylalanine. Individuals with PKU have a daily restriction
of phenylalanine or protein in their food in order to prevent their
blood phenylalanine levels from becoming too high. They also
require a special formula that contains protein without
phenylalanine. This formula or “medical food” is essential to
meet daily protein and nutrient requirements for normal growth and
development. Depending on the amount of dysfunction of
phenylalanine hydroxylase (the enzyme that is abnormal is PKU), some
patients require a strict diet in which they can only have a very
small amount of phenylalanine while others are able to tolerate a
fairly normal diet without causing the phenylalanine level in their
blood to go too high.
Dietary treatment for PKU is extremely important in women with PKU
who are pregnant or want to become pregnant. Especially in the
first trimester, high blood phenylalanine levels in a pregnant
mother can cause brain injury, mental retardation, and heart defects
in the developing baby. Therefore, a woman with PKU should
receive treatment for PKU prior to becoming pregnant.
Why is a genetic diagnosis important?
With early initiation of treatment and good diet management
throughout life, individuals with PKU can grow and develop normally
with no complications.
All newborn babies born in Missouri and Illinois are screened for
PKU before they are discharged from the hospital. Initiating
treatment within the first few weeks of life is essential to prevent
the long-term complications of PKU, including mental retardation.
PKU is an “autosomal recessive” genetic condition. This means
that both parents of a child with PKU carry an abnormality in the
gene that makes phenylalanine hydroxylase. There is a one in four
chance with each pregnancy that the parents will have another child
with PKU.
What will occur during my visit to the PKU clinic?
In the PKU clinic we see both children and adults with PKU,
including pregnant mothers with PKU. At the beginning of the
visit, the patient’s weight, height, and head circumference will be
measured. You will meet with Laurie Sprietsma, our metabolic
dietitian, to review your current dietary management of PKU and to
discuss any questions or concerns that you may have about the diet.
You may also meet with a genetics fellow or a resident physician who
will review your medical history and perform a physical examination.
The dietitian and physician-in-training will then discuss the
history and examination with Dr. Dorothy K. Grange or Dr. Tyler
Reimschisel, our metabolic geneticists. The metabolic
geneticist will then meet you, briefly review the medical and diet
history, ask additional questions, and perform a physical
examination. The metabolic geneticist will then provide her or
his assessment, answer your questions and concerns, and discuss our
dietary and medical recommendations.
What types of labs and studies may be recommended?
Blood work at each clinic visit includes phenylalanine and tyrosine
levels. Additional studies may include tests to assess the
patient’s nutritional status.
Who will I meet in clinic?
Dorothy K. Grange, MD
Geneticist
Tyler Reimschisel, MD
Biochemical Geneticist and Child Neurologist
Laurie Sprietsma, RD, LD
Metabolic Dietician
Where can I go for more information?
National PKU News
www.pkunews.org
Children’s PKU Network
www.pkunetwork.org
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