Genetics Northern California

Handouts and Links

This section contains handouts and links covering many different topics in genetics. Click on the links below or scroll down to find the topic in which you are interested.

General Genetics
Genetic Testing
Prenatal Genetics 

Prenatal Screening Tests

Prenatal Diagnostic Tests

Prenatal Ultrasound

Cancer Genetics



Ethnicity-Based Screening

Hemoglobinopathy Screening

Infectious Disease Screening 
Newborn Screening 

 

 

Resources in Spanish
Other Resources

Huntington Disease

Lipid Clinic

Metabolic Clinic

Neurofibromatosis Clinic

Skeletal Dysplasia Clinic

Spina Bifida Clinic

 

GENERAL GENETICS


What to Expect at Your Child's Genetics Visit for HEARING LOSS (pdf) [Spanish version]- Handout provides information on what a genetics visit can offer for your child with hearing loss and what happens during the visit.

Genetic Discrimination (pdf) - Handout provides an overview of the laws protecting your genetic information.

Genetic Information Nondiscrimination Act (GINA) - An online resource that provides an introduction to GINA and its protections in health insurance and employment.

Making Sense of Your Genes: A Guide to Genetic Counseling (pdf) - Booklet from the Genetic Alliance covering general information about genetic counseling.

Medical Records Release Form (pdf) [Spanish version] [Chinese version]- Blank form for requesting your medical records from another medical facility.

Genetics Education Fact Sheets -  Link to a series of 61 Genetics Fact Sheets produced by The Centre For Genetics Education (CGE) based at Royal North Shore Hospital in Sydney.

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Genetic Testing

Array Comparative Genomic Hybridization (Array CGH) (pdf) - Describes array CGH testing. 

Array CGH: Detection of a deletion or a duplication (pdf) - Explains what it means to get a positive finding by array CGH testing.

Celiac diseae (pdf) - Describes the role of genetic testing for celiac disease.

Direct-to-Consumer Genetic Testing (pdf) - Overview of genetic testing available without a doctor's order.

Fragile X testing (pdf) - Describes fragile X syndrome and genetic testing for this condition.

Genetic Testing Panels (pdf) [Spanish version] - Covers details that can be helpful to know before you have a test that evaluates a large panel of genes at one time.
 
Hereditary Hemochromatosis (pdf) - Describes the inherited form of hemochromatosis (iron overload) and information about testing for common genetic mutations.

Hypertrophic Cardiomyopathy (pdf) - Describes hypertrophic cardiomyopathy (HCM) and provides information about testing for genetic mutations in genes related to this heart condition.   

Inherited Thrombophilia (pdf) - Describes inherited causes of thrombophilia (clotting disorders) and information about testing for common genetic causes.

Long QT syndrome (pdf) - Describes long QT syndrome and provides information about testing for genetic mutations in genes related to this heart condition.
 
MTHFR (pdf) - Genetic testing for the MTHFR gene is not recommended. Learn more about this gene and why testing is not needed for routine care.
 
Prenatal Microarray (pdf) - Describes the difference between chromosomal microarray and standard chromosome testing in  detecting chromosome conditions during pregnancy.

Thoracic Aortic Aneurysm and Dissection [TAAD] (pdf) - Describes TAAD and provides information about testing for genetic mutations in genes related to this condition.

Whole Exome Sequencing (pdf) [Spanish version] - Overview of what to expect from whole exome sequencing.

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PRENATAL GENETICS
Folic Acid and Pregnancy (pdf) [Spanish version]- Describes the benefit of folic acid during pregnancy, how much is needed, and how to ensure you get the amount you need.

Prenatal Testing: Understanding Your Options - Link to a 12 minute Kaiser Permanente program that provides an overview of your testing options during pregnancy.

Prenatal Testing for Birth Defects (pdf) [Spanish version] - Information about prenatal screening tests and diagnostic procedures.

Prenatal Testing for Birth Defects:Testing Options for Twin Pregnancies (pdf) - Information about prenatal screening tests and diagnostic procedures specifically written for twin pregnancies.

Prenatal Testing Decision Tree (pdf) - Uses a question and answer format to help guide you in your decisions about prenatal testing for birth defects. If you are 14 weeks or later in pregnancy, use the second trimester decision tree.

Prenatal Testing Decision Tree: For Women 35 or Older (pdf) - Easy question and answer format to help guide your decision about prenatal testing for birth defects

Miscarriage (pdf) - Information about the range of physical and emotional experiences following a miscarriage.

Perinatal Autopsy (pdf) - Learn what to expect from an autopsy done after a fetal loss or infant death.

Beyond Choice (pdf) - Flyer about the Beyond Choice Support Group for women and their partners who have ended a wanted pregnancy due to a genetic birth defect.

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Screening Tests

California Prenatal Screening Program - Link to the California Department of Public Health web site. Site covers detailed information on Quad Marker Screening, Serum Integrated Screening, and Sequential Integrated Screening. 
Screen Positive Results - Link to PDF handouts about California State Screening first trimester and second trimester screen positive results.

            Screen Positive: Down Syndrome (First trimester)        in SPANISH
            Screen Positive: Down Syndrome (Second trimester)    in SPANISH

            Screen Positive: Trisomy 18 (First trimester)
            Screen Positive: Trisomy 18 (Second trimester)

            Screen Positive: Large Nuchal Translucency
            Screen Positive: Neural Tube Defects
            Screen Positive: SLOS (Smith-Lemli-Opitz Syndrome or Other Birth Defects)

Non-invasive Prenatal Testing (NIPT) (pdf) [Spanish version] ] [Chinese] - Covers information about non-invasive prenatal testing, a screening test that can find select chromosome abnormalities

Prenatal Screening Tests for Women 35 or Older (pdf) [Spanish version] [Chinese version] - Compares California State Screening to Non-Invasive Prenatal Testing (NIPT)

NIPT: High Risk for a Sex Chromosome Disorder (pdf) - Information about what it means when NIPT shows a high risk result for a sex chromosome disorder.

NIPT: No Result (pdf) - Information about what it means when NIPT is unable to give a result.


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Diagnostic Tests

Facts About Amniocentesis & CVS (pdf) [Spanish version] [Chinese version] - Booklet with detailed information about amniocentesis, CVS, and the specific birth defects these tests can find.

Amniocentesis (pdf) [Spanish version] [Chinese version]- Provides a detailed description of the procedure, including how it is done, the risks, and the type of results.

Amniocentesis consent form (pdf) - Copy of the form you sign on the day of your amniocentesis procedure.

Chorionic Villus Sampling (CVS) (pdf) [Spanish version] [Chinese version]- Provides a detailed description of the procedure, including how it is done, the risks, and the type of results.

CVS consent form (pdf) - Copy of the form you sign on the day of your CVS procedure.

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Ultrasound
Ultrasound Exam in Pregnancy (pdf) [Spanish version]

Choroid Plexus Cysts (pdf) [Spanish version] [Chinese version]

Cystic Hygroma (pdf) [Spanish version] [Chinese version

Dilated Renal Pelvis (pdf) [Spanish version] [Chinese version]

Echogenic bowel (pdf) [Spanish version] [Chinese version]

Echogenic Intracardiac Focus (pdf) [Spanish version] [Chinese version]

Gastroschisis (pdf) [Spanish version] [Chinese version]

Mild Ventriculomegaly (pdf) [Spanish version] [Chinese version]

Single Umbilical Artery (pdf) [Spanish version] [Chinese version]

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CANCER GENETICS

Hereditary Cancer Risk: Who should be tested first? (pdf)

Breast Cancer

Breast Cancer Screening (pdf) [Spanish version] [Chinese version] - Information about routine screening for breast cancer.

Breast and Ovarian Cancer Susceptibility Genes: Should you be tested? (pdf) - [Spanish version] [Chinese version] Information about BRCA1 and BRCA2 genes and when testing is indicated.

Breast MRI (pdf) - Describes the use of breast MRI for cancer screening.

FORCE (pdf) - Fact sheet about Facing Our Risk of Cancer Empowered, Inc. (FORCE) support group. This non-profit group was created for individuals at risk for ovarian and/or breast cancer based on genetic testing or family history. Visit their web site at: www.facingourrisk.org.

Breast Cancer Connections - Link to an online resource dedicated to providing personalized information and support to people touched by breast cancer.

Breast Cancer Network of Strength - Link to an online resource that provides information, empowerment, and peer support for anyone affected by breast cancer.

What Are Gynecologic (GYN) Cancers (pdf) - Handout reviewing general information about cancers affecting the female reproductive system (cervix, uterus, ovaries, etc.). 

Hereditary Breast and Ovarian Cancer (video) - An online education program by the Kaiser Permanente Genetics Department covering genetic aspects of breast and ovarian cancer.

Women's Hereditary Cancer Risk Clinic (pdf) - A brochure about a cancer clinic for women who are at high risk for cancer.

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Colon Cancer


Hereditary Colon Cancer: Should you have genetic testing? (pdf) - Information about inherited cancer susceptibility genes and when testing is indicated.

Colorectal Cancer: Immunohistochemistry (IHC) testing (pdf) -  Information about a type of tumor testing that helps identity individuals who may have hereditary colon cancer.

Lynch syndrome (pdf) - Information about the most common type of hereditary colon cancer.

Familial Adenomatous Polyposis (FAP) syndrome (pdf)- Information about a type of hereditary colon cancer

Why Should I Be Tested For Colorectal Cancer (pdf) [Spanish version] - Information about routine screening for colon and rectal cancer.

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GENETIC SCREENING PROGRAMS

Ethnicity Based Screening 
Genetic Carrier Tests (pdf)

Canavan Disease: Everything you need to know about being a carrier (pdf)

Cystic Fibrosis: Everything you need to know about being a carrier (pdf)

Familial Dysautonomia: Everything you need to know about being a carrier (pdf)

Tay-Sachs Disease: Everything you need to know about being a carrier (pdf)

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Hemoglobinopathy Screening

Alpha Thalassemia (pdf) [Chinese version] [Vietnamese version]

Beta Thalassemia (pdf) [Chinese version] [Spanish version]

Hemoglobin C (pdf)

Hemoglobin E (pdf)

Sickle Cell (pdf)

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Newborn Screening

California Newborn Screening Program - Link to the California Department of Public Health web site. Site includes detailed information about the newborn screening program and the diseases included in the screening test.

Important Information for Parents - Education material from the California Newborn Screening Program. Available in English, Spanish, Armenian, Cambodian, Chinese, Farsi, Hmong, Korean, Laotian, Russian, Tagalog, and Vietnamese.

Infectious Disease Screening
Hepatitis B Fact Sheet (pdf)

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SPECIALTY CLINIC

Huntington Disease
Predictive Testing for Huntington Disease (video)

Genetic Movement Disorder Clinic (pdf)


Lipid Clinic
Five-day Diet Record (pdf) - Form used to record all foods consumed over a five day period.

Fiber Facts: Why fiber is important (pdf) [Spanish version] - General information about fiber in your diet.

High Cholesterol? Here is What You Can Do (pdf) [Spanish version] - Information sheet about cholesterol and food choices that can help lower cholesterol levels.

High Triglycerides? Here's What You Can Do (pdf) [Spanish version]- Information sheet about triglycerides and dietary changes that can help lower triglyceride levels.

How Fats Compare (pdf) [Spanish version]- Information sheet about the different types of dietary fats and how to make healthy choices about fat intake.

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Metabolic Clinic
Three-day Food Diary (pdf) - Form used by the clinic to record your daily intake.

A Teacher's Guide to Glycogen Storage Disease, Type 3 (pdf) 

A Teacher's Guide to Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (MCADD) (pdf)

A Teacher's Guide to Phenylketonuria (PKU) (pdf)

Skeletal Dysplasia Clinic
Dwarfism and anesthesia (Link to article) - Medical article reviewing the physical differences in syndromes with dwarfism and the implications for anesthesiology.

Spina Bifida Clinic

The Spina Bifida Association has online handouts on many different topics:

        Latex in the Hospital Environment
        Latex in the Home and Community
        Education Issues Among Children with Spina Bifida
        For more information sheets from the Spina Bifida Association, click here.

Non-verbal Learning Disorders and Spina Bifida (pdf) - Reviews types of learning disorders that may be seen in children with spina bifida. Provides strategies for addressing learning disorders.

Skin Care for Individuals with Spina Bifida (pdf) - Handout provides specific instructions on how to take care of your skin and keep it healthy.

Smart Choice for an Active Lifestyle (pdf) - Booklet developed by the Spina Bifida Clinic; covers general nutritional information.

 OTHER RESOURCES
Bonding with Your Special Needs Child (pdf)

Sibling of Your Special Needs Child (pdf)

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RESOURCES IN SPANISH
General Genetics
Autorizacion para el uso o divulgacion de informacion medica (pdf)


¿Qué esperar en su cita de Genética? (pdf)


¿Qué esperar en su cita de Genética de su hijo? (pdf)


¿Qué debe esperar de la consulta genética de su hijo por pérdida de audición? (pdf)


Secuenciación completa del exoma (pdf)

Prenatales
Pruebas prenatales para detectar defectos de nacimiento: información para ayudarle a decidir (pdf)

Pruebas de detección prenatales:Opciones para mujeres mayores de 35 años (pdf)

 

Prueba prenatal no invasiva (NIPT) (pdf)
 
Datos sobre la amniocentesis y CVS (pdf)

Amniocentesis (pdf) 

El muestreo de vellosidades coriónicas (CVS) (pdf)

Ecografía durante el embarazo (pdf)

Quistes de plexo coroideo (pdf)

Pelvis renal dilatada (pdf)

Foco ecogénico intracardíaco (pdf) 

Arteria umbilical única (pdf)

Ventriculomegalia leve (pdf)

El ácido fólico en el embarazo (pdf)

Cancer
Exámenes de detección del cáncer del seno (pdf)

¿Por qué debo hacerme una prueba de detección del cáncer colorrectal? (pdf) 

Lipid Clinic
Información acerca de la fibra: por qué es importante (pdf)

¿Colesterol alto? Esto es lo que puede hacer (pdf)

¿Tiene un nivel alto de triglicéridos? Aquí le informamos qué es lo que puede hacer (pdf)

Cómo se comparan los diferentes tipos de grasas (pdf)

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