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

Metabolic Clinic

Skeletal Dysplasia Clinic

Spina Bifida Clinic

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.
Genetics of Dementia: Understanding your genetic risk (pdf)
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.
Family History Form - Cancer (pdf) [Spanish]- A fillable form to help collect cancer history in the family.
Family History Form - Cardiogenetics (pdf) [Spanish] - A fillable form to help collect heart disease history in the family.
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"). 
Prenatal Exome Sequencing (pdf)
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.
Genetic Test Results: VUS (pdf) - Information about variants of uncertain significance. 
Hereditary Hemochromatosis (pdf) - Describes the inherited form of hemochromatosis (iron overload) and information about testing for common genetic mutations.
Inherited Thrombophilia (pdf) - Describes inherited causes of thrombophilia (clotting disorders) and information about testing for common genetic causes.
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.
Cardiac Conditions
Dilated Cardiomyopathy(pdf) - Describes dilated cardiomyopathy (DCM) and provides information about testing for genetic mutations in genes related to this condition.
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.   
Long QT syndrome (pdf) - Describes long QT syndrome and provides information about testing for genetic mutations in genes related to this heart condition.

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Getting Enough Folic Acid (pdf) [Spanish]- Describes the benefit of folic acid before and during pregnancy, how much is needed, and how to ensure you get the amount you need.
Prenatal Testing Options - [Spanish] Link to short videos that give information about testing options during pregnancy.
Prenatal Testing Options After 21 Weeks [Spanish](pdf)
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.
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Screening Tests
California Prenatal Screening Program - Information on prenatal screening services provided by the State of California
AFP4 (Quad marker) Screening [Spanish]
      Prenatal Screening Results

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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) - Sample consent form for the 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) - Sample consent form for the CVS procedure.
Prenatal Microarray (pdf)[Spanish] - Describes the difference between chromosomal microarray and standard chromosome testing in detecting chromosome conditions during pregnancy.
Prenatal Exome Sequencing (pdf)

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

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Genetic Carrier Screening
Genetic Carrier Screening (pdf) [Spanish] [Chinese]

 Positive Carrier Screening Handouts:

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Hemoglobinopathy Screening
Alpha Thalassemia (pdf) [Chinese][Khmer][Laotian][Spanish][Thai][Vietnamese]
Beta Thalassemia (pdf) [Chinese][Spanish]
Hemoglobin C (pdf) [Spanish]
Hemoglobin D (pdf)
Hemoglobin E (pdf) [Khmer][Laotian][Spanish][Thai][Vietnamese]
Sickle Cell (pdf) [Spanish]

Sickle Cell Disease and Pregnancy (pdf)

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Hereditary Cancer Risk: Who should be tested first? (pdf) [Spanish]
Inherited Cancer Risk (video; 35 min) [Spanish] - 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) [Spanish] [Chinese]
Mental Health and Wellness Resources (pdf) 

Breast/Ovarian Cancer
Learning About Breast Cancer Screening
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  - Describes the use of MRI for breast cancer screening.
What Are Gynecologic (GYN) Cancers (pdf) - Handout reviewing general information about cancers affecting the female reproductive system (cervix, uterus, ovaries, etc.).
Hereditary Cancer Risk Clinic (pdf) - Medical clinic for people with a genetic risk for breast, ovarian, and uterine cancer.

Support Groups

  • FORCE - Facing Our Risk of Cancer Empowered, Inc. (FORCE). This non-profit group is for people at risk for ovarian and/or breast cancer based on genetic testing or family history. 
                en espanol :
  • Breast Cancer Connections - Link to an online resource dedicated to providing personalized information and support to people touched by breast cancer.

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Colon Cancer
Prevent Colon Cancer [Spanish] [Chinese]
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

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

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Newborn Screening
California Newborn Screening Program - California Department of Public Health website on the CA Newborn Screening Program.  
Information for Families - Information about the California Newborn Screening Program and the diseases included in the screening test.

Infectious Disease Screening
Hepatitis B Fact Sheet (pdf)

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Huntington Disease
Predictive Testing for Huntington Disease (12 min video)
Genetic Movement Disorder Clinic (pdf)

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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
Spina Bifida Association - National support organization for people with spina bifida. 
     SBA's Information Sheet: Latex in the Home and Community

Parental Emotional Health

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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 por pérdida de audición? (pdf)

Cuestionario sobre antecedentes familiares - Genética cardiovascular
Cuestionario sobre antecedentes familiares - Genética relacionada con el cáncer

Hibridación genómica comparativa por arrays(Array CGH) (pdf) 
Secuenciación completa del exoma (pdf)
Los paneles de pruebas genéticas (pdf)
Pruebas cromosómicas durante el embarazo (pdf) 

Conozca sus opciones de pruebas prenatales (video)
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) 
Cómo obtener suficiente ácido fólico (folato)

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

Mi prueba de detección prenatal de California resultó positiva.¿Y ahora qué? (pdf)

Datos acerca de la prueba prenatal no invasiva (NIPT) (pdf)
  Resultado de las pruebas prenatales no invasivas (NIPT):
    Probabilidad alta de síndrome de Down (pdf)
    Riesgo alto de alteración del cromosoma sexual (pdf)
    Probabilidad alta de trisomía 18 (pdf)
    Solicitud de repetición (pdf)
    Sin resultados después de repetir la prueba (pdf)
    Aneuploidía de cromosomas sexuales o sexo fetal no concluyente (pdf)

Prueba genética de detección de portadores (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)
    Rasgo de talasemia β y enfermedad talasemia β (pdf)

Ecografía durante el embarazo (pdf)
Quistes de plexo coroideo (pdf)
Higroma quístico (pdf)
Pelvis renal dilatada (pdf)
Intestino ecogénic (pdf)
Gastrosquisis (pdf)
Foco ecogénico intracardíaco (pdf)
Pliegue nucal aumentado (2.º trimestre) (pdf)
Pequeño defecto del tabique ventricular (VSD) (pdf)
Translucencia nucal aumentada (pdf)
Arteria umbilical única (pdf)
Ventriculomegalia leve (pdf)

Riesgo de cáncer hereditario (video)
Cuestionario sobre los antecedentes familiares de cáncer (pdf form)
Prueba inmunohistoquímica (IHC) (pdf)
Pruebas genéticas de cáncer: Diferencias entre las pruebas de tumores y las pruebas de líneas germinales  (pdf)

Exámenes de detección del cáncer del seno (pdf)
Cáncer hereditario de seno y de ovario (pdf)
Pruebas genéticas relacionadas: cáncer de ovarios (pdf)
FORCE en espanol:

Prevenga el cáncer de colon
¿Por qué debo hacerme una prueba de detección del cáncer colorrectal? (pdf)
Síndrome de Lynch (pdf)
Poliposis adenomatosa familiar (pdf)  

Pruebas genéticas relacionadas con el cáncer de páncreas (pdf)
Cáncer pediátrico ¿Debería considerar la asesoría genética para el cáncer infantil? (pdf)
Pruebas genéticas relacionadas con el cáncer de próstata (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)

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