Fact Sheets

Here you will find fact sheets on numerous genetic disorders, tests and other common topics.  GEC-KO materials were developed through a careful review of available literature and, when appropriate, in consultation with specialists working in specific areas of medical genetics.  Most of the products developed by the GEC-KO team have been prepared by a multidisciplinary team of healthcare providers. Some fact sheets link to outside sites that have been reviewed by the GEC-KO team.

Featured GECKO products are GE-CKO on the run and GEC-KO Messenger.  Each GEC-KO on the run is a concise summary for healthcare providers on a genetic disorder, technology or topic.   For access to a more comprehensive summary, view or download a GEC-KO Messenger.  Both GEC-KO Messengers and GEC-KO on the run are written by a team that includes genetic counsellors, geneticists and genetic researchers. All are reviewed by a family physician.  They are evidence-based and referenced, and feature a ‘Bottom line’ with recommendations.

A  |  B  |  C  |  D  |  E  |  F  |  G  |  H  |  I  |  J  |  K  |  L  |  M  |  N  |  O  |  P  |  Q  |  R  |  S  |  T  |  U  |  V  |  W  |  X  |  Y  |  Z  |  1,2,3...

Or use the CTRL + F function to search keywords on this page.

 

A

Alzheimer disease | PDF  | AD | Dementia | apolipoprotein E APOE | presenilin  PSEN | amyloid  APP | LOAD | EOAD | GEC-KO on the run (2014)

Argininosuccinic Acidemia (ASA) | Amino acid disorder | Newborn Screening Ontario

 

B

ß-Ketothiolase (BKT) Deficiency | Organic acid disorder | Newborn Screening Ontario

Biotinidase deficiency | Newborn Screening Ontario
BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer Syndrome | PDF | HBOC | GEC-KO on the run (2016)
C

Carnitine Uptake Defect (CUD) | Fatty Acid Oxidation Defect (FAOD) | Newborn Screening Ontario

Chromosomal Microarray | PDF | CMA | Technology | Autism Spectrum Disorder | Developmental Delay | GEC-KO on the run (2013)

Citrullinemia | Amino acid Disorder | Newborn Screening Ontario

Cobalamin A & B Defects | Organic acid disorder | Newborn Screening Ontario

Codeine and Breastfeeding | PDF | Pharmacogenomics | SNPs | Metabolism | cytochrome P450 | CYP 2D6 | GEC-KO on the run (2013)

Colorectal Cancer | PDF | Lynch syndrome | Colorectal | Hereditary non-polyposis colorectal cancer (HNPCC) syndrome | GEC-KO on the run (2014)

Congenital Adrenal Hyperplasia (CAH) | Endocrine Disorder | Newborn Screening Ontario

Congenital Hypothyroidism (CH) | Endocrine Disorder | Newborn Screening Ontario
Consanguinity | PDF | Preconception  counselling | Ethnicity-based screening | GEC-KO on the run (2014)
Cystic fibrosis | CF | CFTR | Newborn Screening Ontario

D

Diabetes Type 2 | PDF | non-insulin dependent diabetes mellitus | NIDDM | susceptibility | TCF7L2 | GEC-KO on the run (2014)

Direct-to-Consumer Genetic Testing | PDF |  DTC | Personal Genome Testing | Technology | GEC-KO on the run (2015)

 

F

Factor V Leiden | PDF | Thrombophilia | Venous Thromboembolism | Susceptibility | FVL | VTE | GEC-KO on the run (2014)

Familial hypercholesterolemia | FH | cholesterol | dyslipidemia | cardiovasular disease | GEC-KO on the run (2016)

 

 

G

GalactosemiaNewborn Screening Ontario

Gene/Sequencing Variant Interpretation | Next Generation Sequencing | Next-Gen | NGS | pathogenic | benign | variant of unknown significance | VUS | Guide to | SickKids Genome Diagnostics | 2016

Glutaric Acidemia Type I (GAI) | Organic Acid Disorder | Newborn Screening Ontario

 

H

Hemoglobinopathies | Sickle Cell Disease (SS) | Sickle Cell Disease (SC) |  Sickle Cell Disease (Sickle/Beta-thalassemia) | Newborn Screening Ontario

Hereditary Hemochromatosis | PDF | HH | HFE | Iron Overload | C282Y | GEC-KO on the run (2013)

Hereditary Breast and Ovarian Cancer Syndrome | PDF | HBOC | BRCA1 | BRCA2 | GEC-KO on the run (2016)

HMG-CoA Lyase Deficiency | 3-hydroxy-3-methylglutaric-CoA lyase deficiency | Organic Acid Disorder | Newborn Screening Ontario

Homocystinuria | Amino Acid Disorder | Newborn Screening Ontario

Huntington Disease | PDF | Neurodegenerative | Psychiatric | huntingtin HTT | CAG repeat | triplet repeat disorder | GEC-KO on the run (2014)
Hypertrophic Cardiomyopathy | PDF | HCM | Cardiogenetics | Sudden Cardiac Death | SCD | sarcomere | GEC-KO on the run (2014)

I

Isovaleric Acidemia (IVA) | Organic Acid Disorder | Newborn Screening Ontario

 

L

Long Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency | Fatty Acid Oxidation Defect (FAOD) | Newborn Screening Ontario

Long QT syndrome | LQTS | cardiogenetics | arrythmia | Sudden unexplained death | GEC-KO on the run (2016)

Lynch Syndrome | PDF | LS | Cancer | Colon | Colorectal | Hereditary non-polyposis colorectal cancer (HNPCC) syndrome | MSI | MLH | MSH | GEC-KO on the run (2014)

 

N

Next Generation Sequencing | NGS | Next-Gen | Guide to | SickKids Genome Diagnostics | 2016

Next Generation Sequencing: Interpreting Sequence (Gene) Variants | Next-Gen | NGS | pathogenic | benign | variant of unknown significance | VUS | Guide to | SickKids Genome Diagnostics | 2016

Non-Invasive Prenatal Testing | PDF| *PDF en francais* | NIPT | Prenatal | Screening | GEC-KO on the run (2015)

M

Maple Syrup Urine Disease (MSUD) | Amino Acid Disorder | Newborn Screening Ontario

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency | Fatty acid oxidation | Newborn Screening Ontario

3-Methylcrotonyl-CoA Carboxylase (3MCC) Deficiency | Organic Acid Disorder | Newborn Screening Ontario

Methylmalonic Acidemia (MUT, Cbl) | Organic Acid Disorders | Newborn Screening Ontario

Multiple Sclerosis | PDF | Demyelinating | Complex inheritance | Suceptibility | GEC-KO on the run (2014)

P

Pharmacogenomics Codeine and Breastfeeding | PDF | SNPs | Metabolism | cytochrome P450 | CYP 2D6 | GEC-KO on the run (2013)

Phenylketonuria (PKU) | Amino Acid Disorder | Newborn Screening Ontario

Propionic Acidemia (PA) | Organic Acid Disorder | Newborn Screening Ontario

Prostate Cancer | Hereditary Cancer | Familial Cancer | Gene Messenger (2009)

 

S

Schizophrenia | PDF | Mental Illness | Complex Inheritance |  Susceptibility | Syndromic vs Isolated | GEC-KO on the run (2014)

Severe Combined Immune Deficiency (SCID) | Newborn Screening Ontario

Sickle Cell Disease (SS) | Sickle Cell Disease (SC) |  Sickle Cell Disease (Sickle/Beta-thalassemia) | Hemoglobinopathies | Newborn Screening Ontario

Sickle Cell Anemia | Hemoglobinopathy | Newborn Screening Ontario | Ethnicity-based screening | Gene Messenger (2010)

 

T

Thrombophilia – Factor V Leiden | PDF | Venous Thromboembolism | Susceptibility | FVL | VTE | GEC-KO on the run (2014)

Trifunctional Protein (TFP) Deficiency | Fatty Acid Oxidation Defect (FAOD) | Newborn Screening Ontario

Type 2 Diabetes | PDF | non-insulin dependent diabetes mellitus | NIDDM | Susceptibility | TCF7L2 | GEC-KO on the run (2014)

Tyrosinemia (Type I) | Amino Acid Disorder | Newborn Screening Ontario

 

V

Very Long Chain Acyl-Co-A dehydrogenase (VLCAD) Deficiency | Fatty Acid Oxidation Defect (FAOD) | Newborn Screening Ontario

 

Each GEC-KO on the run and Gene Messenger is a 1-2 page review of a genetic disorder, test, or gene-disease association. They are written by a genetic counsellor with input from a geneticist and family physician.  They are evidence-based and referenced, and feature a ‘Bottom line’ with recommendations.

Gene Messengers were developed as part of the GenetiKit project.  This was a CIHR funded randomized controlled trial to enhance the delivery of genetics services by family physicians. The objective was to determine if a multi-faceted knowledge translation intervention would improve skills in primary care genetics including genetics referral decisions, confidence in core genetics competencies and knowledge.  Findings from this study were published and can be found in Carroll JC, Wilson BJ, Allanson J, Grimshaw J, Blaine SM, Meschino WS, Permaul JA, Graham ID. GenetiKit: a randomized controlled trial to enhance delivery of genetics services by family physicians. Fam Pract 2011; 28(6): 615-23.

 

Disclaimer

Currently, the website is attempting to meet the information needs of healthcare providers. As a result, when choosing content and terminology for the site, we have assumed that the reader has a certain amount of medical knowledge.

Healthcare providers must use their own clinical judgment in addition to the information presented herein. The authors assume no responsibility or liability resulting from the use of information on this website.

All healthcare providers using this site are encouraged to consult local genetics clinics, medical geneticists, or specialists for clarification of questions that arise relating to specific patient problems.

External links are selected and reviewed at the time a page is published. However, GEC-KO is not responsible for the content of external websites. The inclusion of a link to an external website from GEC-KO should not be understood to be an endorsement of that website or the site’s owners (or their products/services).

We strive to provide accurate, timely, unbiased and up-to-date information on this site, and make every attempt to ensure the integrity of the site. However, it is possible that the information contained here may contain inaccuracies or errors for which neither GEC-KO nor its funding agencies assume responsibility.