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Our analysis of the infant's haemoglobin included high-performance liquid chromatography, cellulose acetate electrophoresis and citrate agar electrophoresis, which showed trace amounts of a suspected variant. Ultimately, the diagnosis was made through a novel application of next-generation sequencing (NGS). NGS-based diagnostic approaches are becoming increasingly available to clinicians, and our case provides a framework and evidence for the utilisation of such testing paradigms in the diagnosis of a rare cause of neonatal cyanosis.<\/jats:p>","DOI":"10.1136\/bcr-2016-215193","type":"journal-article","created":{"date-parts":[[2016,4,19]],"date-time":"2016-04-19T08:52:57Z","timestamp":1461055977000},"page":"bcr2016215193","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":6,"title":["Diagnosis of a rare fetal haemoglobinopathy in the age of next-generation sequencing"],"prefix":"10.1136","volume":"2016","author":[{"given":"Thomas A","family":"Hooven","sequence":"first","affiliation":[{"name":"Department of Pediatrics, New York University Langone Medical Center, New York, New York, USA"},{"name":"Department of Pediatrics, Columbia University, New York, New York, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ellen M","family":"Hooper","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Columbia University, New York, New York, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandeep N","family":"Wontakal","sequence":"additional","affiliation":[{"name":"Department of Pathology, Columbia University, New York, New York, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard O","family":"Francis","sequence":"additional","affiliation":[{"name":"Department of Pathology, Columbia University, New York, New York, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rakesh","family":"Sahni","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Columbia University, New York, New York, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margaret T","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Columbia University, New York, New York, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2016,4,19]]},"reference":[{"key":"2025082707423879000_2016.apr19_1.bcr2016215193.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cpem.2008.06.006"},{"key":"2025082707423879000_2016.apr19_1.bcr2016215193.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.siny.2008.02.003"},{"key":"2025082707423879000_2016.apr19_1.bcr2016215193.3","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1542\/peds.83.5.734","article-title":"Mutant fetal hemoglobin causing cyanosis in a newborn","volume":"83","author":"Priest","year":"1989","journal-title":"Pediatrics"},{"key":"2025082707423879000_2016.apr19_1.bcr2016215193.4","doi-asserted-by":"publisher","DOI":"10.3109\/03630269209005690"},{"key":"2025082707423879000_2016.apr19_1.bcr2016215193.5","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.2830490108"},{"key":"2025082707423879000_2016.apr19_1.bcr2016215193.6","doi-asserted-by":"publisher","DOI":"10.1080\/03630260802507915"},{"key":"2025082707423879000_2016.apr19_1.bcr2016215193.7","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1013579"},{"key":"2025082707423879000_2016.apr19_1.bcr2016215193.8","doi-asserted-by":"publisher","DOI":"10.1016\/j.bjhh.2014.03.020"},{"key":"2025082707423879000_2016.apr19_1.bcr2016215193.9","doi-asserted-by":"publisher","DOI":"10.3109\/03630269.2012.655872"},{"key":"2025082707423879000_2016.apr19_1.bcr2016215193.10","doi-asserted-by":"publisher","DOI":"10.1097\/MPH.0b013e3182667be3"},{"key":"2025082707423879000_2016.apr19_1.bcr2016215193.11","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380030310"},{"key":"2025082707423879000_2016.apr19_1.bcr2016215193.12","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1542\/peds.83.5.792","article-title":"Hemoglobin Fm-Fort-Ripley\u2014another lesson from the neonate","volume":"83","author":"Glader","year":"1989","journal-title":"Pediatrics"},{"key":"2025082707423879000_2016.apr19_1.bcr2016215193.13","doi-asserted-by":"publisher","DOI":"10.1016\/S0196-0644(99)70167-8"},{"key":"2025082707423879000_2016.apr19_1.bcr2016215193.14","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.47.11.1758"},{"key":"2025082707423879000_2016.apr19_1.bcr2016215193.15","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1093\/clinchem\/41.3.458","article-title":"Measurement of methemoglobin in neonatal samples containing fetal hemoglobin","volume":"41","author":"Speakman","year":"1995","journal-title":"Clin Chem"},{"key":"2025082707423879000_2016.apr19_1.bcr2016215193.16","doi-asserted-by":"crossref","unstructured":"Haymond S , Cariappa R , Eby CS , et al . 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