Genetic laboratory practices related to testing of the GJB2 (Connexin-26) gene in the United States in 1999 and 2000

Genetic Testing

Volumn 7, Issue 1, 2003, Pages 49-56

  Kenneson, Aileen ^a   Myers, Melanie F ^a   Lubin, Ira M ^b   Boyle, Coleen ^a  

^a The National Center on Birth Defects   (United States)

^b Public Health Practice Program Office   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26;

ADMINISTRATIVE PERSONNEL; ARTICLE; CLINICAL RESEARCH; EVALUATION; GENE MUTATION; GENETIC ANALYSIS; HEARING LOSS; HUMAN; INFORMED CONSENT; INTERVIEW; LABORATORY PERSONNEL; LABORATORY TEST; MOLECULAR GENETICS; NORMAL HUMAN; PATIENT REFERRAL; POLICY; PROFESSIONAL PRACTICE; REIMBURSEMENT; TECHNIQUE; UNITED STATES;

CONNEXINS; DNA MUTATIONAL ANALYSIS; GENETIC PRIVACY; GENETIC SCREENING; HEARING LOSS, SENSORINEURAL; HETEROZYGOTE DETECTION; HUMANS; INFORMED CONSENT; INTERVIEWS; MUTATION; PRACTICE GUIDELINES; REFERRAL AND CONSULTATION; UNITED STATES;

EID: 0037357757     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/109065703321560949     Document Type: Article

References (10)

1. AMERICAN COLLEGE OF MEDICAL GENETICS. (1999). Standards and Guidelines for Clinical Genetics Laboratories, 2nd ed. (American College of Medical Genetics, Bethesda, MD).
2. DEPARTMENT OF HEALTH AND HUMAN SERVICES. (2000). Genetic Testing Under the Clinical Laboratory Improvement Amendments. Fed. Reg. 65, 25928-25934.
3. HOFGÄRTNER, W.T., and TAIT, J.F. (1999a). Frequency of problems during clinical molecular-genetic testing. Am. J. Clin. Pathol. 112, 14-21.
4. HOFGÄRTNER, W.T., and TAIT, J.F. (1999b). Characteristics of clinical molecular-genetic testing laboratories in the United States. Clin. Chem. 45, 1288-1290.
5. HOLTZMAN, N.A., and WATSON, M.S., eds. (1997). Final report of the Task Force on Genetic Testing: Promoting safe and effective genetic testing in the United States. (National Human Genome Research Institute, Washington DC).
6. KAZAZIAN, H.H., BOEHM, C., and SELTZER, W.K. (2000). ACMG recommendations for standards for interpretation of sequence variation. Genet. Med. 2, 302-303.
7. LENNESON, A., VAN NAARDEN BRAUN, K., and BOYLE, C. GJB2 (Connexin 26) variants and nonsyndromic sensorineural hearing loss. Genet. Med. 4, 258-274.
8. MCGOVERN, M.M., BENACH, M.O., WALLENSTEIN, S., DESNICK, R.J., and KEENLYSIDE, R. (1999). Quality assurance in molecular genetic testing laboratories. J. Am. Med. Assn. 281, 835-840.
9. NATIONAL COMMITTEE FOR CLINICAL LABORATORY STANDARDS. (2000). Molecular diagnostic methods for genetic disease, approved guidelines. National Committee for Clinical Laboratory Standards document MM1-A 2000;17.
10. SECRETARY'S ADVISORY COMMITTEE ON GENETIC TESTING. (2000). Enhancing the oversight of genetic tests: Recommendations of the SACGT. (National Institutes of Health, Bethesda, MD).