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Table 2 List of the 42 new reimbursement nomenclature codes [18]

From: Belgian rare diseases plan in clinical pathology: identification of key biochemical diagnostic tests and establishment of reference laboratories and financing conditions

Domains of clinical pathology

Biological matrices

Names of the nomenclature codes

Clinical chemistry

Blood

Separated identification and assessment of C22–C26 fatty acids, phytanic acid and pristanic acid by mass spectrometry

Methylmalonic acid and succinylacetone assessment

Pipecolic acid assessment

Guanidinoacetate and creatine assessment

Measurement of alpha-d-galactose 1-phosphate (Gal-1-P) in erythrocytes

Separated assessment of cholestanol, 7-dehydrocholesterol and 8-dehydrocholesterol

Separated assessment of desmosterol, lathosterol, campesterol, sitosterol and 27-hydroxycholesterol

Identification of asialotransferrin, monosialotransferrin, and asialotransferrin

Determination of the Alpha-1-proteinase inhibitor (= alpha-1-antitrypsin) phenotype

Serum/plasma

Organic acids assessment

Urine

Guanidinoacetate and creatine assessment

Separated assessment of polyols after fractionation

Separated assessment of mono- and disaccharides after fractionation

Separated assessment of polyols, monosaccharides and disaccharides after fractionation

Cerebrospinal fluid

Specific mass spectrometric identification and dosage of organic acids

Specific assessment of amino acids by LC–MS/MS after derivatization and fractionation

Guanidinoacetate and creatine assessment

Stool

Measurement of pancreatic Elastase 1

Amniotic fluid

Separated assessment of 7-dehydrocholesterol and 8-dehydrocholesterol

Hormonology

Blood

Assessment of fibroblast growth factor 23

Assessment of pregnenolone

Assessment of 17-hydroxypregnenolone

Proinsulin measurement

Saliva

Cortisol measurement

Haematology

Blood

Eosin-5′-maleimide (EMA) binding test

Coagulation and hemostasis

Plasma

Alpha 2-Antiplasmin measurement

Functional analysis of von Willebrand factor-cleaving protease (ADAMTS13)

Identification of the von Willebrand factor‐cleaving protease inhibitor

Diagnosis of type 2N von Willebrand disease

von Willebrand factor collagen-binding activity assay

von Willebrand factor multimer analysis

von Willebrand factor propeptide assay

Detection of heparin-induced antibodies (= diagnosis of heparin induced thrombocytopenia [HIT])

Functional analysis of HIT antibodies

Platelet secretion assay

Measurement of prekallikrein (Fletcher Factor) anticoagulant activity and of high-molecular-weight kininogen

Immuno-haematology and non-infectious serology

Serum

Detection of anti-podocytes antibodies in the context of membranous glomerulonephritis diagnosis

Detection of anti-podocytes antibodies in the context of membranous glomerulonephritis follow-up

Determination of anti-acetylcholine receptor antibodies

Immunoassay identification of autoantibodies against bullous pemphigoid (BP) antigen 180, BP230 (bullous pemphigoid antigen 1), DSG1 (desmoglein 1), DSG3 (desmoglein 3), type VII collagen and envoplakin

Follow-up of the production of autoantibodies against bullous pemphigoid (BP) antigen 180, BP230 (bullous pemphigoid antigen 1), DSG1 (desmoglein 1), DSG3 (desmoglein 3), type VII collagen and envoplakin by immunoassay