Diagnostic yield of repeat genetic testing in idiopathic chronic pancreatitis.
Clin Res Hepatol Gastroenterol
; 48(6): 102346, 2024 Jun.
Article
en En
| MEDLINE
| ID: mdl-38657903
ABSTRACT
Genetic testing is performed for unexplained pancreatitis. The aim of this study was to evaluate the diagnostic value of repeating genetic testing in idiopathic pancreatitis when new predisposing genes are identified. We investigated 330 patients who were initially screened for PRSS1, SPINK1 and CFTR genes. A new analysis was performed by Next-Generation Sequencing (NGS) for PRSS1, SPINK1, CFTR, CTRC, CASR, CPA1, TRPV6 genes and the CEL-HYB1 allele in clinical practice, and patients were included in our cohort study. Additional rare variants were identified in 7.3 % of the patients. Screening for new pancreatitis genes is recommended when initial screening is limited. Routine use of NGS is a useful diagnostic tool in these cases.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Pruebas Genéticas
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Pancreatitis Crónica
Límite:
Adult
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Aged
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Año:
2024
Tipo del documento:
Article