Clinical diagnostic Next-Generation sequencing: the case of CFTR carrier screening.
Scand J Clin Lab Invest
; 75(5): 374-81, 2015 Sep.
Article
en En
| MEDLINE
| ID: mdl-25874479
ABSTRACT
A 23-mutation panel for CFTR carrier screening is recommended to women of reproductive age by the American College of Obstetricians and Gynecologists. In the present study the optimized efficiency regarding the carrier rate of Next-Generation sequencing (NGS) technology is compared to the one of limited mutation detection panels. A total of 824 consequent cases were subjected to the commercial Cystic Fibrosis Genotyping Assay. Some 188 negative samples randomly selected from the initial group of probands were further subjected to an extended mutation panel characterized by 92% detection rate, as well as to massive parallel sequencing. Twenty-two probands subjected to the commercial assay proved to carry one mutation included in the ACOG panel (carrier rate 0.0267). The latter panels revealed the presence of mutations not included in the ACOG panel in four probands, resulting to an increase of carrier rate of 0.0106 in the case of in-house panel and an increase of rate of 0.0213 if NGS was used. The above data seem to support the implementation of NGS in the routine CFTR carrier screening.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Pruebas Genéticas
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Regulador de Conductancia de Transmembrana de Fibrosis Quística
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Fibrosis Quística
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Secuenciación de Nucleótidos de Alto Rendimiento
Tipo de estudio:
Diagnostic_studies
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Prognostic_studies
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Screening_studies
Límite:
Humans
Idioma:
En
Año:
2015
Tipo del documento:
Article