Genetic testing [NEW TOPIC PAGE]

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Last Posted: Dec 14, 2018

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• Genetic testing plus IVF can sidestep genetic disease and reduce the need for high-priced therapies
  LD Cooper, Stat News, December 14, 2018
• Alport syndrome: deducing the mode of inheritance from the presence of haematuria in family members.
  Savige Judy et al. Pediatric nephrology (Berlin, Germany) 2018 Nov
• Aneuploidy Screening using Next Generation Sequencing.
  Cinnioglu Cengiz et al. Methods in molecular biology (Clifton, N.J.) 2019 188585-102
• Cost effectiveness of the cancer prevention program for carriers of the BRCA1/2 mutation.
  Ramos Marcelo Cristiano de Azevedo et al. Revista de saude publica 2018 Nov 5294
• Molecular Testing for Preimplantation Genetic Diagnosis of Single Gene Disorders.
  Zimmerman Rebekah S et al. Methods in molecular biology (Clifton, N.J.) 2019 188561-71
• Prenatal Diagnosis by Whole Exome Sequencing in Fetuses with Ultrasound Abnormalities.
  Felice Vanessa et al. Methods in molecular biology (Clifton, N.J.) 2019 1885267-285
• Prenatal Diagnosis of Cystic Fibrosis.
  Fedick Anastasia M et al. Methods in molecular biology (Clifton, N.J.) 2019 1885221-231
• Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle? 
  PD Beitsch et al, JCO, December 10, 2018
• Views from the clinic: Healthcare provider perspectives on whole genome sequencing in paediatrics.
  Szego M J et al. European journal of medical genetics 2018 Nov
• Workload measurement for molecular genetics laboratory: A survey study.
  Tagliafico Enrico et al. PloS one 2018 13(11) e0206855

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