title: Quadruplex real-time polymerase chain reaction assay for molecular diagnosis of Y-chromosomal microdeletions.
abstract: OBJECTIVE
  To develop a rapid and reliable method for molecular diagnosis of Y-chromosomal microdeletions.
  
  
  METHODS
  Study of diagnostic accuracy.
  
  
  METHODS
  Molecular diagnostics laboratories in three hospitals.
  
  
  METHODS
  A total of 701 men with nonobstructive azoospermia or oligozoospermia from three hospitals.
  
  
  METHODS
  We developed a quadruplex real-time polymerase chain reaction (PCR) assay and evaluated its performance in molecular diagnosis of Y-chromosomal microdeletions.
  
  
  METHODS
  Analytic sensitivity, analytic specificity, clinical sensitivity, and clinical specificity.
  
  
  RESULTS
  The limit of detection of quadruplex real-time PCR assay was 100 pg genomic DNA. The method attained 100% analytic specificity, 100% clinical sensitivity, and 100% clinical specificity.
  
  
  CONCLUSIONS
  We have successfully upgraded the diagnostic method published by the European Academy of Andrology and the European Molecular Genetics Quality Network. Our method was validated to be fast, simple, contamination free, of high analytic sensitivity and specificity. Therefore, it is strongly suggested that such quadruplex real-time PCR assay can be readily applied as clinical routine in the near future.
authors.affiliation: Molecular Diagnostics Laboratory, Department of Medical Genetics, Prenatal Diagnosis Center, Maternal and Child Health Hospital, Xiamen, People's Republic of China.
authors.forename: Qiwei
authors.initials: Q
authors.lastname: Guo
authors.forename: Fenghua
authors.initials: F
authors.lastname: Lan
authors.forename: Liangpu
authors.initials: L
authors.lastname: Xu
authors.forename: Yu
authors.initials: Y
authors.lastname: Jiang
authors.forename: Li
authors.initials: L
authors.lastname: Xiao
authors.forename: Hailong
authors.initials: H
authors.lastname: Huang
authors.forename: Yulin
authors.initials: Y
authors.lastname: Zhou
mesh_terms: D053713:Azoospermia / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D002681:China; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007248:Infertility, Male; D057230:Limit of Detection; D008297:Male; D010641:Phenotype; D011237:Predictive Value of Tests; D060888:Real-Time Polymerase Chain Reaction; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D013091:Spermatogenesis / Q000235:genetics