Genetics Guidelines

Category:
Conditions: Primary (idiopathic) dystonia and dystonia plus syndromes
Published Date: 2006 May
Published by: European Federation of Neurological Societies

Category:
Conditions: AtaxiaNote: Vertigo is a separate American College of Radiology (ACR) Appropriateness Criteria??? topic and will not be readdressed in this guideline.
Published Date: 1999 (revised 2006)
Published by: American College of Radiology

Category:
Conditions: Breast cancer
Published Date: 1997 May (revised 2006 Nov 1)
Published by: American Society of Clinical Oncology

Category: Family Practice, Medical Genetics, Obstetrics and Gynecology
Conditions: Foetal chromosomal abnormalities rhesus disease infection preterm labour fetal lung immaturity
Published Date: 1996 Oct (revised 2005 Jan)
Published by: Royal College of Obstetricians and Gynaecologists

Category: Family Practice, Medical Genetics, Neurology, Nursing, Nutrition, Obstetrics and Gynecology, Pediatrics, Speech-Language Pathology
Conditions: Hypotonia (""""floppy infant syndrome"""")Infant health/nutrition
Published Date: 2007 Jun
Published by: Academy of Breastfeeding Medicine

Category:
Conditions: Primary aldosteronism
Published Date: 2008 Sep
Published by: The Endocrine Society

Category: Family Practice, Medical Genetics, Neurology, Pediatrics
Conditions: Developmental delaysMental retardation
Published Date: 2006 Jun
Published by: American Academy of Pediatrics

Category:
Conditions: Cystic fibrosis
Published Date: 2005 Feb
Published by: National Society of Genetic Counselors

Category: Critical Care, Emergency Medicine, Family Practice, Internal Medicine, Medical Genetics, Neurology, Pediatrics, Psychiatry, Psychology
Conditions: Epilepsy including:Focal epileptic seizuresGeneralised epileptic seizuresStatus epilepticusNote: The guideline does not cover seizures in newborn babies infants under one month of age the management of non-epileptic seizures nor surgical or other specialised treatment for intractable seizures. Issues relating to contraception and reproduction have been covered in the adult guideline.
Published Date: 2005 Mar
Published by: Scottish Intercollegiate Guidelines Network

Category:
Conditions: Wilson disease (WD; hepatolenticular degeneration)
Published Date: 2003 Jun (revised 2008 Jun)
Published by: American Association for the Study of Liver Diseases

Category:
Conditions: Disorders of sex development (formerly known as intersex disorders pseudohermaphroditism hermaphroditism)Note: Disorders of sex development includes congenital conditions with atypical development of chromosomal gonadal or anatomical sex.
Published Date: 2008 Mar
Published by: European Association of Urology, European Society for Paediatric Urology

Category:
Conditions: Ovarian cancer
Published Date: 1999 Sep (revised 2008 Jan)
Published by: American College of Obstetricians and Gynecologists

Category:
Conditions: Epithelial ovarian cancerNote: The management of borderline tumours is not included within these recommendations.
Published Date: 2003 Oct
Published by: Scottish Intercollegiate Guidelines Network

Category:
Conditions: Hereditary cancer (hereditary cancer syndromes)Familial cancer
Published Date: 2004 Apr
Published by: National Society of Genetic Counselors

Category:
Conditions: Fragile X syndrome
Published Date: 2000 (revised 2005 Aug)
Published by: National Society of Genetic Counselors

Category:
Conditions: Recurrent miscarriage
Published Date: 2005 Jun
Published by: National Society of Genetic Counselors

Category:
Conditions: Celiac disease
Published Date: 2005 Jan
Published by: North American Society for Pediatric Gastroenterology Hepatology and Nutrition

Category: Family Practice, Medical Genetics, Nutrition, Obstetrics and Gynecology, Otolaryngology, Pediatrics, Speech-Language Pathology
Conditions: Neonatal partial ankyloglossia (also called tongue-tie)Infant health/nutrition
Published Date: 2004
Published by: Academy of Breastfeeding Medicine

Category:
Conditions: Lipid storage myopathies (LSMs) including:Carnitine palmitoyltransferase II deficiencyPrimary systemic carnitine deficiencyPrimary muscle carnitine deficiency Very long acyl-CoA-dehydrogenase deficiencyTrifunctional enzyme deficiencyMedium-chain acyl-CoA-dehydrogenase deficiencyShort-chain acyl-CoA-dehydrogenase deficiencyRiboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
Published Date: 2006 Sep
Published by: European Federation of Neurological Societies

Category: Hematology, Medical Genetics, Obstetrics and Gynecology, Pediatrics
Conditions: Hemoglobinopathies in pregnancy including:Sickle cell diseaseThalassemia (alpha and beta)
Published Date: 2007 Jan
Published by: American College of Obstetricians and Gynecologists

Category: Critical Care, Dentistry, Family Practice, Internal Medicine, Medical Genetics, Nutrition, Oncology, Pediatrics, Psychiatry, Psychology, Radiation Oncology
Conditions: Malignant diseases which for convenience are grouped into three categories:Solid tumoursHaematological malignanciesCentral nervous system (CNS) malignancies
Published Date: 2005 Aug
Published by: National Collaborating Centre for Cancer

Category: Medical Genetics, Obstetrics and Gynecology, Pediatrics
Conditions: Fetal chromosomal abnormalities (fetal aneuploidy)
Published Date: 2007 Dec
Published by: American College of Obstetricians and Gynecologists

Category: Medical Genetics, Neurological Surgery, Neurology, Obstetrics and Gynecology, Pediatrics, Preventive Medicine
Conditions: Neural tube defects including:Cranial defects (anencephaly exencephaly encephalocele and iniencephaly)Spinal defects (spina bifida meningocele meningomyelocele myeloschisis holorachischisis and craniorachischisis)
Published Date: 2001 (revised 2003 Jul)
Published by: American College of Obstetricians and Gynecologists

Category:
Conditions: Neurofibromatosis Type 1 (NF1)
Published Date: 2007 Aug
Published by: National Society of Genetic Counselors

Category:
Conditions: Colorectal neoplasms
Published Date: 2006 Mar
Published by: American Society of Colon and Rectal Surgeons

Category: Family Practice, Medical Genetics, Obstetrics and Gynecology, Pediatrics
Conditions: Prenatal genetic disorders (diagnosed or suspected) that may result in fetal abnormalities
Published Date: 2004 Sep
Published by: American Academy of Pediatrics

Category:
Conditions: Non-psychotic depression
Published Date: 2007 Dec
Published by: Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group,

Category:
Conditions: Hereditary breast and ovarian cancer
Published Date: 2007 Jun
Published by: National Society of Genetic Counselors

Category:
Conditions: Congenital hypothyroidism
Published Date: 1996 (revised 2008 Mar)
Published by: United States Preventive Services Task Force

Category: Medical Genetics, Obstetrics and Gynecology
Conditions: Fetal chromosomal abnormalities including:Down syndromeTrisomy 18Trisomy 13Turner syndromeNeural tube defectOther significant fetal chromosome defects
Published Date: 2001 May (revised 2007 Jan)
Published by: American College of Obstetricians and Gynecologists

Category:
Conditions: Hereditary hemochromatosis
Published Date: 2006
Published by: United States Preventive Services Task Force

Category:
Conditions: Hereditary hemochromatosis
Published Date: 2005 Oct 4
Published by: American College of Physicians

Category: Cardiology, Endocrinology, Family Practice, Geriatrics, Internal Medicine, Medical Genetics, Nursing, Nutrition, Pharmacology, Preventive Medicine
Conditions: Metabolic syndrome
Published Date: 2004 May
Published by: University of Texas at Austin School of Nursing Family Nurse Practitioner Program

Category:
Conditions: Phenylketonuria (PKU)
Published Date: 1996 (revised 2008 Mar)
Published by: United States Preventive Services Task Force

Category:
Conditions: Sickle cell disease
Published Date: 1996 (revised 2007)
Published by: United States Preventive Services Task Force

Category:
Conditions: Pulmonary arterial hypertension
Published Date: 2004 Jul
Published by: American College of Chest Physicians

Category: Colon and Rectal Surgery, Family Practice, Gastroenterology, Internal Medicine, Medical Genetics, Oncology, Pathology, Preventive Medicine
Conditions: Colorectal cancer risk factors including:Familial adenomatous polyposisHereditary nonpolyposis colorectal cancerHamartomatous polyposis syndromesHyperplastic polyposis syndromeColorectal adenomaInflammatory bowel disease (ulcerative colitis Crohn's disease)
Published Date: 2004 May
Published by: New Zealand Guidelines Group

Category: Family Practice, Internal Medicine, Medical Genetics, Neurology, Obstetrics and Gynecology, Pediatrics
Conditions: Epilepsy including: Focal/partial/localisation related epilepsiesIdiopathic generalised epilepsiesStatus epilepticus
Published Date: 2004 Oct
Published by: National Collaborating Centre for Primary Care

Category:
Conditions: von Willebrand disease (VWD)
Published Date: 2007 Dec
Published by: National Heart Lung and Blood Institute (U.S.)

Category: Family Practice, Internal Medicine, Medical Genetics, Obstetrics and Gynecology
Conditions: Recurrent miscarriage
Published Date: 2003 May
Published by: Royal College of Obstetricians and Gynaecologists

Category:
Conditions: Breast cancer
Published Date: 2004 Jun 28
Published by: American Society of Breast Disease