title: CHIPS for genetic testing to improve a regional clinical genetic service.
abstract: In current practice of clinical genetics, molecular diagnosis has become more widely used than ever before. DNA diagnosis is important for appropriate medical care of the patient, and proper genetic counseling to the family. However, genetic testing of orphan disease cannot always be performed easily. In multiple congenital anomalies (MCA) syndromes by monogenic cause, the broad mutational spectrum and large size of responsible genes often make molecular diagnosis expensive and cumbersome. We solve this problem with on-demand genetic testing by CHIPS (CEL nuclease mediated heteroduplex incision with polyacrylamide gel electrophoresis and silver staining) technology, which is the ultimately conventional and economical mutation screening system. In this article, we show eight patients with MCA syndromes who were recently treated at our hospital, and demonstrate that CHIPS successfully offers efficient and inexpensive genetic testing and facilitates clinical genetic service in our local region.
authors.affiliation: Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University, Uchinada, Japan.|Center for Medical Genetics, Kanazawa Medical University Hospital, Uchinada, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Niida
authors.affiliation: Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University, Uchinada, Japan.|Center for Medical Genetics, Kanazawa Medical University Hospital, Uchinada, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Ozaki
authors.affiliation: Department of Pediatrics, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Inoue
authors.affiliation: Center for Medical Genetics, Kanazawa Medical University Hospital, Uchinada, Japan.
authors.forename: E
authors.initials: E
authors.lastname: Takase
authors.affiliation: Department of Pediatrics, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Kuroda
authors.affiliation: Department of Pediatrics, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Mitani
authors.affiliation: Department of Pediatrics, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Okumura
authors.affiliation: Department of Pediatrics, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Yokoi
authors.affiliation: Department of Pediatrics, Toyama Prefectural Central Hospital, Toyama, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Fujita
authors.affiliation: Department of Pediatrics, Tonami General Hospital, Toyama, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Yamada
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D002648:Child; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D009154:Mutation / Q000235:genetics; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*
keywords: clinical genetics; enzyme mismatch cleavage; genetic testing; multiple congenital anomalies syndrome; skeletal dysplasia