Kaiser Permanente 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

What to Expect at Your Genetics Visit (pdf) [Spanish]

What to Expect at Your Child's Genetics Visit (pdf) [Spanish]

What to Expect at a Genetics Visit for HEARING LOSS (pdf) [Spanish]

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.

Autosomal Dominant (AD) Inheritance (pdf)

Autosomal Recessive (AR) Inheritance (pdf)

X-Linked (XL) Inheritance (pdf)

Reproductive Options for Genetic Risk (pdf)

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GENETIC TESTING

Alpha-1 Antitrypsin Deficiency (pdf)
APOE testing and Alzheimer disease (pdf)

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.

Fragile X Carrier Screening: Intermediate or Gray Zone Result (pdf)

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.

PRENATAL

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

Cell-Free DNA Screening (pdf) [Spanish] [Chinese]
MSAFP Screening

AFP4 (Quad marker) Screening [Spanish]

Prenatal Screening Results

cfDNA: Screen Positive for Down Syndrome (pdf) [Spanish]
cfDNA: Screen Positive for Trisomy 18 (pdf) [Spanish]
cfDNA: Screen Positive for Trisomy 13 (pdf) [Spanish]
cfDNA: No Fetal Sex reported (pdf) [Spanish]
cfDNA: No Result (pdf) [Spanish]
cfDNA: No Result after Repeat Testing (pdf) [Spanish]
cfDNA: High Probability for a Sex Chromosome Disorder (pdf) [Spanish]
cfDNA: Inconclusive fetal sex or sex chromosomes (pdf) [Spanish]
MSAFP/AFP4: Screen Positive for Neural Tube Defects or Abdominal Wall Defects (pdf) [Spanish]

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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
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]

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

Positive Carrier Screening Handouts:

Canavan Disease (pdf)
Cystic Fibrosis (pdf) [Spanish]
Familial Dysautonomia (pdf)
Fragile X: Intermediate or Gray Zone Result (pdf)
Gaucher Disease (pdf)
Spinal Muscular Atrophy (pdf) [Spanish] [Chinese]
Tay-Sachs Disease (pdf)

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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CANCER GENETICS
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 : https://www.facingourrisk.org/portal/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.

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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SPECIALTY CLINICS
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

OTHER RESOURCES
Parental Emotional Health

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 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)

Prenatales
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)