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Burosumab for treating X-linked hypophosphataemia in children and young people (HST8)

Evidence-based recommendations on burosumab (Crysvita) for treating X-linked hypophosphataemia (XLH) in children and young people

Highly specialised technologies guidance Published October 2018

Eliglustat for treating type 1 Gaucher disease (HST5)

Evidence-based recommendations on eliglustat (Cerdelga) for treating type 1 Gaucher disease in adults

Highly specialised technologies guidance Published June 2017

Asfotase alfa for treating paediatric-onset hypophosphatasia (HST6)

Evidence-based recommendations on asfotase alfa (Strensiq) for treating paediatric-onset hypophosphatasia in adults and children

Highly specialised technologies guidance Published August 2017

Migalastat for treating Fabry disease (HST4)

Evidence-based recommendations on migalastat (Galafold) for treating Fabry disease in people over 16

Highly specialised technologies guidance Published February 2017

Strimvelis for treating adenosine deaminase deficiency–severe combined immunodeficiency (HST7)

Evidence-based recommendation on Strimvelis for adenosine deaminase deficiency–severe combined immunodeficiency (ADA–SCID)

Highly specialised technologies guidance Published February 2018

Inotersen for treating hereditary transthyretin amyloidosis (HST9)

Evidence-based recommendations on inotersen (Tegsedi) for stage 1 and stage 2 polyneuropathy in adults with hereditary transthyretin amyloidosis

Highly specialised technologies guidance Published May 2019

Voretigene neparvovec for treating inherited retinal dystrophies caused by RPE65 gene mutations (HST11)

Evidence-based recommendations on voretigene neparvovec (Luxturna) for RPE65-mediated inherited retinal dystrophies (confirmed biallelic RPE65 gene mutations)

Highly specialised technologies guidance Published October 2019

Patisiran for treating hereditary transthyretin amyloidosis (HST10)

Evidence-based recommendations on patisiran (Onpattro) for treating hereditary transthyretin amyloidosis in adults with stage 1 and stage 2 polyneuropathy

Highly specialised technologies guidance Published August 2019

Cerliponase alfa for treating neuronal ceroid lipofuscinosis type 2 (HST12)

Evidence-based recommendations on cerliponase alfa (Brineura) for treating neuronal ceroid lipofuscinosis type 2 (CLN2) in children

Highly specialised technologies guidance Published November 2019

Molecular testing strategies for Lynch syndrome in people with colorectal cancer (DG27)

Evidence-based recommendations on immunohistochemistry/microsatellite instability testing to guide tests for Lynch syndrome in people with colon cancer

Diagnostics guidance Published February 2017

Rapid tests for group A streptococcal infections in people with a sore throat (DG38)

Evidence-based recommendations on rapid tests for group A streptococcal (strep A) infections in people aged 5 and over with a sore throat

Diagnostics guidance Published November 2019

Adjunctive colposcopy technologies for assessing suspected cervical abnormalities: the DYSIS colposcope with DYSISmap and the ZedScan I (DG32)

Evidence-based recommendations on DYSIS colposcope with DYSISmap and ZedScan I for assessing suspected cervical abnormalities in people having colposcopy

Diagnostics guidance Published April 2018

Biomarker tests to help diagnose preterm labour in women with intact membranes (DG33)

Evidence-based recommendations on biomarker tests (Actim Partus, PartoSure, Rapid fFN 10Q Cassette) to diagnose preterm labour in women with intact membranes

Diagnostics guidance Published July 2018

Multiple frequency bioimpedance devices to guide fluid management in people with chronic kidney disease having dialysis (DG29)

Evidence-based recommendations on multi frequency bioimpedance devices to guide fluid management for people with chronic kidney disease having dialysis

Diagnostics guidance Published June 2017

Integrated multiplex PCR tests for identifying gastrointestinal pathogens in people with suspected gastroenteritis (xTAG Gastrointestinal Pathogen Panel, FilmArray GI Panel and Faecal Pathogens B assay) (DG26)

Evidence-based recommendations on integrated multiplex polymerase chain tests for identifying gastrointestinal pathogens in suspected gastroenteritis

Diagnostics guidance Published January 2017

New generation cardiac CT scanners (Aquilion ONE, Brilliance iCT, Discovery CT750 HD and Somatom Definition Flash) for cardiac imaging in people with suspected or known coronary artery disease in whom imaging is difficult with earlier generation CT scanners (DG3)

Evidence-based recommendations on new generation computed tomography (CT) scanners for cardiac imaging for suspected or known coronary artery disease

Diagnostics guidance Published January 2012 Last updated July 2017

Virtual chromoendoscopy to assess colorectal polyps during colonoscopy (DG28)

Evidence-based recommendations on virtual chromoendoscopy (VCE) using NBI, FICE or i-scan to assess colorectal polyps of 5 mm or less during colonoscopy

Diagnostics guidance Published May 2017

Therapeutic monitoring of TNF-alpha inhibitors in rheumatoid arthritis (DG36)

Evidence-based recommendations on enzyme-linked immunosorbent assay (ELISA) tests for therapeutic monitoring of TNF-alpha inhibitors in rheumatoid arthritis

Diagnostics guidance Published July 2019

Tumour profiling tests to guide adjuvant chemotherapy decisions in early breast cancer (DG34)

Evidence-based recommendations on tumour profiling tests to guide adjuvant chemotherapy decisions in early breast cancer

Diagnostics guidance Published December 2018

Quantitative faecal immunochemical tests to guide referral for colorectal cancer in primary care (DG30)

Evidence-based recommendations on quantitative faecal immunochemical tests (OC Sensor, HM-JACKarc and FOB Gold) to guide GP referral for colorectal cancer

Diagnostics guidance Published July 2017

Atrial fibrillation and heart valve disease: self-monitoring coagulation status using point-of-care coagulometers (the CoaguChek XS system) (DG14)

Evidence-based recommendations on point-of-care coagulometers (the CoaguChek XS system) to self-monitor blood clotting

Diagnostics guidance Published September 2014 Last updated December 2017

Point-of-care creatinine devices to assess kidney function before CT imaging with intravenous contrast (DG37)

Evidence-based recommendations on point-of-care creatinine devices to assess kidney function before CT imaging with intravenous contrast

Diagnostics guidance Published November 2019

Tests in secondary care to identify people at high risk of ovarian cancer (DG31)

Evidence-based recommendations on tests (IOTA ADNEX, Overa, RMI I, ROMA, IOTA Simple Rules) in secondary care to identify people at high risk of ovarian cancer

Diagnostics guidance Published November 2017

Lead-I ECG devices for detecting symptomatic atrial fibrillation using single time point testing in primary care (DG35)

Evidence-based recommendations on lead-I ECG devices for detecting symptomatic atrial fibrillation using single time point testing in primary care

Diagnostics guidance Published May 2019