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. 2022 Jun 6;6(6):e739.
doi: 10.1097/HS9.0000000000000739. eCollection 2022 Jun.

The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper

Noémi B A Roy  1   2 , Lydie Da Costa  3 , Roberta Russo  4   5 , Paola Bianchi  6 , Maria Del Mar Mañú-Pereira  7 , Elisa Fermo  6 , Immacolata Andolfo  4   5 , Barnaby Clark  8 , Melanie Proven  9 , Mayka Sanchez  10   11 , Richard van Wijk  12 , Bert van der Zwaag  12 , Mark Layton  13 , David Rees  8 , Achille Iolascon  4   5
Affiliations

The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper

Noémi B A Roy et al. Hemasphere. .
No abstract available

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Figures

Figure 1.
Figure 1.
(A) Cartoon of the process of creating an NGS report from arrival of sample in the laboratory. (Usually includes clinical scientists and clinicians.) (B) American College of Medical Genetics variant classification, with examples of further studies that can be carried out to determine the pathogenicity of class 3 variants of uncertain significance. This includes family studies to investigate segregation, as well as functional assays such as red cell enzyme activities, EMA dye binding for hereditary spherocytosis, and osmotic gradient ektacytometry (Osmoscan), which investigates red cell deformability for membrane disorders. This list is not exhaustive and includes other functional assays (eg, electron microscopy for CDA, ribosomal profiling, or northern blots for DBA); EMA dye binding. CDA = congenital dyserythropoietic anaemias; DBA = Diamond-Blackfan anaemia; Ekta = ektacytometry; EMA = eosin-5’-maleimide; MDT = multidisciplinary team; NGS = next-generation sequencing.
Figure 2.
Figure 2.
Clinical and laboratory assessment of the patient with a suspected diagnosis of inherited anaemia. These are indicative only and not exhaustive. eADA, erythrocyte adenosine deaminase; EMA, eosin-5′-maleimide test; FBC, full blood count; HPLC, high performance liquid chromatography; LDH, lactate dehydrogenase; LFTs, liver function tests; retics, reticulocytes; U&Es, urea and electrolytes.
See this image and copyright information in PMC

References

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