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.





  Other Cancers




    Screening Tests

    Diagnostic Procedures

    Prenatal Ultrasound

    Genetic Carrier Screening

    Hemoglobinopathy Screening

    Infectious Disease Screening 



Huntington Disease

Lipid Clinic

Metabolic Clinic

Skeletal Dysplasia Clinic

Spina Bifida Clinic


What to Expect at Your Child's Genetics Visit for HEARING LOSS (pdf) [Spanish]- 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] [Chinese]- Blank form for requesting your medical records from another medical facility.

Back to top 


Array Comparative Genomic Hybridization (Array CGH) (pdf) [Spanish] - 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 disease (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.

Exome Sequencing (pdf) [Spanish] - Overview of what to expect from exome sequencing (also called "whole exome sequencing"). 

Fragile X testing (pdf) - Describes fragile X syndrome and genetic testing for this condition.
Genetic Testing Panels (pdf) [Spanish] - 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.

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

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.
Preimplantation Genetic Testing (pdf) - Information sheet on testing embryos for genetic diseases. 

Prenatal Microarray (pdf) [Spanish] - Describes the difference between chromosomal microarray and standard chromosome testing in detecting chromosome conditions during pregnancy.

Back to top 


Folic Acid and Pregnancy (pdf) [Spanish]- 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 - [Spanish] 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] - 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.

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.

Back to top 

Screening Tests

California Prenatal Screening Program - California Department of Public Health web site: Covers detailed information on Quad Marker Screening, Serum Integrated Screening, and Sequential Integrated Screening. 
Screen Positive Results - Handouts from the California State Screening Program 

Non-invasive Prenatal Testing (NIPT) (pdf) [Spanish version] ] [Chinese] - 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 Results

Back to top 

Diagnostic Procedures

Amniocentesis (pdf) [Spanish] [Chinese]- 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] [Chinese]- 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.

Prenatal Microarray (pdf) - Describes the difference between chromosomal microarray and standard chromosome testing in detecting chromosome conditions during pregnancy.
Back to top 

Ultrasound Exam in Pregnancy (pdf) [Spanish]

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

Cystic Hygroma (pdf) [Spanish] [Chinese

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

Echogenic Bowel (pdf) [Spanish] [Chinese]

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

Gastroschisis (pdf) [Spanish] [Chinese]

Increased Nuchal Fold (2nd trimester) (pdf) [Spanish]

Increased Nuchal Translucency or Large NT (pdf) [Spanish]

Mild Ventriculomegaly (pdf) [Spanish] [Chinese]

Small VSD (Ventricular septal defect) (pdf)

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

Back to top 

Genetic Carrier Screening
Genetic Carrier Screening (pdf) [Spanish] [Chinese]
Positive Carrier Screening Handouts:

Back to top

Hemoglobinopathy Screening

Alpha Thalassemia (pdf) [Chinese] [Vietnamese]

Beta Thalassemia (pdf) [Chinese] [Spanish]

Hemoglobin C (pdf)

Hemoglobin E (pdf)

Sickle Cell (pdf)

Sickle Cell Disease and Pregnancy (pdf)

Back to top


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

Inherited Cancer Risk (video; 35 min) - An online education program by the Kaiser Permanente Genetics Department covering hereditary cancer syndromes and inherited cancer risk.

Family History Form [Spanish]- A fillable form to help collect cancer history in the family.

Tumor Testing: Immunohistochemistry (IHC) test (pdf) [Spanish] -  Information about a tumor test that helps identify individuals who may have Lynch syndrome.

Genetic Tests in Cancer: Tumor Testing versus Germline Testing (pdf)

Mental Health and Wellness Resources (pdf) 

Breast/Ovarian Cancer

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

Breast and Ovarian Cancer Susceptibility Genes: Should you be tested? (pdf) - [Spanish] [Chinese] Information about cancer risk genes for breast and ovarian cancer.

Ovarian Cancer (pdf) [Spanish]- Genetic testing recommendations for ovarian cancer. 

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:

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

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

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

Back to top 

Colon Cancer

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

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

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

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

Other Cancers

Pancreatic Cancer (pdf) [Spanish]- Genetic testing recommendations for pancreatic cancer.  
Pediatric Cancer: Should I have genetic counseling? (pdf)  
Prostate Cancer (pdf) [Spanish] - Genetic testing recommendations for prostate cancer. 

Back to top 

Newborn Screening
California Newborn Screening Program - California Department of Public Health website: 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.

Infectious Disease Screening
Hepatitis B Fact Sheet (pdf)

Back to top 

Huntington Disease
Predictive Testing for Huntington Disease (12 min 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] - General information about fiber in your diet.

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

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

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

Back to top 

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.

Parental Emotional Health

Back to top 

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)

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)  
Amniocentesis (pdf) 
El muestreo de vellosidades coriónicas (CVS) (pdf)

Fibrosis quística: Resultado positivo de la de prueba de detección de portador (pdf)
Atrofía muscular espinal: Resultado positivo de la de prueba de detección de portador (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)
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)
¿Triglicéridos altos?¡Puede hacer mucho para mejorar! (pdf)
Comparación entre los diferentestipos de grasas (pdf)

Back to top