Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders | Zendy

C. Sue Richards | Zendy; Glenn E. Palomaki | Zendy; Felicitas Lacbawan | Zendy; Elaine Lyon | Zendy; Gerald L. Feldman | Zendy

Open Access

Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders

Author(s) -

C. Sue Richards,

Glenn E. Palomaki,

Felicitas Lacbawan,

Elaine Lyon,

Gerald L. Feldman

Publication year - 2013

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2013.65

Subject(s) - genetic testing , confidence interval , dna sequencing , sanger sequencing , medicine , sequence (biology) , medical physics , family medicine , medical education , genetics , biology , dna

Thousands of genetic tests are now offered clinically, but many are for rare disorders that are offered by only a few laboratories. The classic approach to disease-specific external proficiency testing programs is not feasible for such testing, yet calls have been made to provide external oversight.

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