Carrier Testing || Public Health Genomics Knowledge Base (v1.2)

Public Health Genomics Knowledge Base (v1.2)

 Carrier Testing expanded expanded

A comprehensive strategy for exome-based preconception carrier screeni
CEH Suzanne et al, Genetics in Medicine, October 27, 2016

Do people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening?
Holtkamp Kim C A et al. European journal of human genetics : EJHG 2016 Feb 24(2) 171-7

More information on this topic

Last Updated: Oct 27, 2016

• A comprehensive strategy for exome-based preconception carrier screeni
  CEH Suzanne et al, Genetics in Medicine, October 27, 2016
• Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes.
  Bastida Bermeja Jose Maria, et al. Thrombosis and haemostasis 2016 10 (1)
• Do people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening?
  Holtkamp Kim C A et al. European journal of human genetics : EJHG 2016 Feb 24(2) 171-7
• A secondary benefit: the reproductive impact of carrier results from newborn screening for cystic fibrosis.
  Bombard Yvonne et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Sep
• The measurement of patient attitudes regarding prenatal and preconception genetic carrier screening and translational behavioral medicine: an integrative review.
  Shiroff Jennifer J et al. Translational behavioral medicine 2016 Aug
• Development of carrier testing for common inborn errors of metabolism in the Wisconsin Plain population.
  Kuhl Ashley et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Aug
• Why Do Parents Want to Know their Child's Carrier Status? A Qualitative Study.
  Vears Danya F et al. Journal of genetic counseling 2016 May
• Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children.
  Silver Ari J et al. Genetic testing and molecular biomarkers 2016 Apr
• Highlighting the impact of cascade carrier testing in cystic fibrosis families.
  Duguépéroux Ingrid et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2016 Mar
• Parents' experiences with requesting carrier testing for their unaffected children.
  Vears Danya F et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Mar
• Generating a taxonomy for genetic conditions relevant to reproductive planning.
  Korngiebel Diane M et al. American journal of medical genetics. Part A 2016 Mar 170(3) 565-73
• Carrier testing in children and adolescents.
  Vears D F et al. European journal of medical genetics 2015 Nov
• Genetic Program Manual for Local Health Departments (August, 2008) (Iowa)[PDF 2.45 MB] 
  Disease: Multiple Diseases; Type: Tools|Program; State: Illinois
• Duchenne Muscular Dystrophy: a Survey of Perspectives on Carrier Testing and Communication Within the Family.
  Hayes Brenna et al. Journal of genetic counseling 2015 Oct
• Public Perceptions of Recessive Carrier Testing in the Preconception and Prenatal Periods.
  Shiroff Jennifer J et al. Journal of obstetric, gynecologic, and neonatal nursing : JOGNN / NAACOG 2015 Oct

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Relevant Resources

• Cancer Genomics and Epidemiology Navigator (CGEN)
• Genetics and Genomics Competencies Center (G2C2)
• NIH Genetic Testing Registry
• NIH MedGen Database
• Online Mendelian Inheritance in Man (OMIM)
• PharmGKB