Genetic testing for cystic fibrosis: Validation of the Elucigene® CF20kit in blood and mouthwash samples;Diagnostic moléculaire de la mucoviscidose: Évaluation de la trousse Elucigene® CF20 dans le sang et les cellules buccales

Annales de Biologie Clinique

Volumn 59, Issue 3, 2001, Pages 277-283

  Feldmann, D ^a   Guittard, C ^a   Des Georges, M ^a   Houdayer, C ^a   Magnier, C ^a   Claustres, M ^a   Couderc, R ^a  

^a ARMAND TROUSSEAU HOSPITAL   (France)

Author keywords

ABCC7; ARMS; CF; CFTR; Cystic fibrosis; Genotype; Molecular diagnostics; Mutation

Indexed keywords

DNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ALLELE; AMINO ACID SUBSTITUTION; ANALYTICAL EQUIPMENT; ARTICLE; BLOOD ANALYSIS; CAUCASIAN; CLINICAL ARTICLE; COMPARATIVE STUDY; CROSS REACTION; CYSTIC FIBROSIS; GEL ELECTROPHORESIS; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HETEROZYGOTE; HOMOZYGOTE; HUMAN; LABORATORY; MOUTH MUCOSA; MOUTHWASH; MUTATION; REPRODUCIBILITY; SEQUENCE ANALYSIS;

AMINO ACID SUBSTITUTION; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENETIC SCREENING; HUMANS; LABORATORIES; MOUTH MUCOSA; MUTATION; REAGENT KITS, DIAGNOSTIC; REPRODUCIBILITY OF RESULTS; SEQUENCE DELETION;

EID: 0034972954     PISSN: 00033898     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (22)

1. Cystic fibrosis: What is the incidence?
2. Neonatal screening for cystic fibrosis in Brittany, France: Assessment of 10 years' experience and impact on prenatal diagnosis
3. Cystic fibrosis
4. The diagnosis of cystic fibrosis: A consensus statement
5. Neonatal screening for cystic fibrosis: Result of a pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutation analyses
6. Methods for detection of point mutations: Performance and quality assessment
7. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)
8. Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene
9. A multiplex ARMS test for 10 cystic fibrosis (CF) mutations: Evaluation in a prenatal CF screening program
10. Clinical evaluation of the CF(12)m cystic fibrosis DNA diagnostic kit
11. Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations
12. Les bases moléculaires de la mucoviscidose en France: Plus de 300 mutations et 506 génotypes différents sont en cause
13. Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France
14. CFTR gene analysis in cystic fibrosis patients: Detection of 91% of molecular defects and identification of the novel mutation D979V
15. Double mutant alleles: Are they rare?
16. Screening practices for mutations in the CFTR gene ABCC7
17. Evaluation of CFTR gene mutation testing methods in 136 diagnostic laboratories: Report of a large European external quality assessment
18. Genetic testing and quality control in diagnostic laboratories
19. Genetic testing and the clinical laboratory improvement amendments of 1988: Present and future
20. Recommandations for quality improvement in genetic testing for cystic fibrosis. European concerted action on cystic fibrosis
21. Neonatal diagnosis of cystic fibrosis: Application of the Elucigene CF20 test using blood spots samples