| Disorder | Material | MIM (phenotype) | Price (Euro) |
| Disorders of amino acid and peptide metabolism - Urea cycle disorders and inherited hyperammonaemias | |||
| Ornithine transcarbamylase deficiency (gene OTC) | gDNA, cDNA | 311250 | 450 |
| Disorders of amino acid and peptide metabolism - Organic acidurias | |||
| Beta-ketothiolase deficiency (gene ACAT1) | gDNA | 271900 | 540 |
| Canavan disease (gene ASPA) | gDNA, cDNA | 203750 | 400 |
| Glutaric acidemia I (gene GCDH) | gDNA, cDNA | 246450 | 350 |
| Hydroxymethylglutaric aciduria (gene HMGCL) | gDNA | 231670 | 450 |
| Methylmalonic aciduria, mut(0) type, mut(-) type (gene MUT) | gDNA, cDNA | 251000 | 580 |
| Disorders of amino acid and peptide metabolism - Disorders of the metabolism of sulphur amino acids | |||
| Homocystinuria classical (gene CBS) | gDNA | 613752 | 660 |
| Methionine synthase reductase deficiency (gene MTRR) | gDNA, cDNA | 236200 | 700 |
| SAH hydrolase deficiency (gene AHCY) | gDNA | 236270 | 450 |
| Disorders of carbohydrate metabolism - Glycogen storage disorders | |||
| Glycogen storage disease Ia - von Gierke disease (gene G6PC) | gDNA | 232200 | 300 |
| Glycogen storage disease Ib (gene SLC37A4) | gDNA | 232220 | 400 |
| Glycogen storage disease III - Cori, Forbes disease (gene AGL) | gDNA | 232400 | 1200 |
| Glycogen storage disease V - McArdle disease (gene PYGM) | gDNA | 232600 | 620 |
| Wolff-Parkinson-White syndrome (gene PRKAG2) | gDNA, cDNA | 600858, 261740, 194200 | 740 |
| Disorders of fatty acid metabolism | |||
| LCHAD deficiency (gene HADHA) | gDNA, cDNA | 609016 | 740 |
| MCAD deficiency (gene ACADM) | gDNA, cDNA | 201450 | 540 |
| Carnitine palmitoyl transferase II deficiency (gene CPT2) | gDNA | 608836, 600649, 255110 | 300 |
| Disorders of energy metabolism | |||
| Mohr-Tranebjaerg syndrome (gene TIMM8A) | gDNA, cDNA | 304700 | 100 |
| Disorders of purine metabolism | |||
| Adenylosuccinase deficiency (gene ADSL) | gDNA, cDNA | 103050 | 540 |
| Familiar gout and hyperuricemia (gene ABCG2) | gDNA | 138900 | 700 |
| Familial juvenile hyperuricemic nephropathy 1 (gene UMOD) | protein$, gDNA | 162000, 603860, 603860 | 500 |
| Lesch-Nyhan syndrome, Kelley-Seegmiller syndrome (gene HPRT1) | gDNA, cDNA | 300322, 300323 | 400 |
| Renal hypouricemia 1 (gene SLC22A12) | gDNA | 220150 | 450 |
| Renal hypouricemia 2 (gene SLC2A9) | gDNA | 612076 | 580 |
| Xanthinuria, type I (gene XDH) | gDNA | 278300 | 1540 |
| Disorders of the metabolism of sterols | |||
| Mevalonic aciduria (gene MVK) | gDNA | 610377 | 540 |
| Lysosomal disorders - Mucopolysaccharidoses | |||
| Mucopolysaccharidosis type I (gene IDUA) | gDNA | 607014, 607015, 607016 | 620 |
| Mucopolysaccharidosis type II (gene IDS) | gDNA | 309900 | 500 |
| Mucopolysaccharidosis type IIIA (gene SGSH) | gDNA | 252900 | 400 |
| Mucopolysaccharidosis type IIIC (gene HGSNAT) | gDNA | 252930 | 820 |
| Mucopolysaccharidosis type IVB (gene GLB1) | gDNA | 253010 | 700 |
| Lysosomal disorders - Sphingolipidoses | |||
| Prosaposin deficiency (gene PSAP) | gDNA, cDNA | 611721 | 620 |
| Fabry disease (gene GLA) | gDNA, cDNA | 301500 | 350 |
| Gaucher disease (gene GBA) | gDNA | 230800, 230900, 231000, 231005, 608013 | 350 |
| Krabbe disease (gene GALC) | gDNA | 245200 | 820 |
| Metachromatic leukodystrophy (gene ARSA) | gDNA, cDNA | 250100 | 350 |
| Niemann-Pick disease, type A/B (gene SMPD1) | gDNA | 257200, 607616 | 350 |
| Niemann-Pick disease, type C1 (gene NPC1) | gDNA, cDNA | 257220 | 1060 |
| Niemann-Pick disease, type C2 (gene NPC2) | gDNA, cDNA | 607625 | 250 |
| Tay-Sachs disease - GM2 gangliosidosis type I (gene HEXA) | gDNA | 272800 | 580 |
| Sandhoff disease - GM2 gangliosidosis type II (gene HEXB) | gDNA, cDNA | 268800 | 580 |
| Lysosomal disorders - Ceroid lipofuscinoses, neuronal (CLN) | |||
| Neuronal ceroid lipofuscinosis 2 (gene TPP1) | gDNA, cDNA | 204500 | 500 |
| Neuronal ceroid lipofuscinosis 3 (gene CLN3) | gDNA | 204200 | 540 |
| Neuronal ceroid lipofuscinosis 4B (gene DNAJC5) | gDNA | 162350 | 200 |
| Neuronal ceroid lipofuscinosis 5 (gene CLN5) | gDNA | 256731 | 200 |
| Neuronal ceroid lipofuscinosis 6 (gene CLN6) | gDNA, cDNA | 601780 | 350 |
| Neuronal ceroid lipofuscinosis 7 (gene MFSD8) | gDNA, cDNA | 610951 | 660 |
| Neuronal ceroid lipofuscinosis 8 (gene CLN8) | gDNA, cDNA | 600143 | 200 |
| Other lysosomal disorders | |||
| Danon disease (gene LAMP2) | gDNA, cDNA | 300257 | 540 |
| Mucolipidosis II/III (gene GNPTAB) | gDNA, cDNA | 252500, 252600 | 820 |
| Peroxisomal disorders | |||
| Adrenoleukodystrophy, X-Linked (gene ABCD1) | gDNA, cDNA | 300100 | 450 |
| Disorders in the metabolism of vitamins and (non-protein) cofactors - Disorders of folate metabolism and transport | |||
| Neurodegeneration due to cerebral folate transport deficiency (gene FOLR1) | gDNA | 613068 | 250 |
| Methylenetetrahydrofolate reductase deficiency (gene MTHFR) | gDNA, cDNA | 236250 | 350 |
| Megaloblastic anemia due to dihydrofolate reductase deficiency (gene DHFR) | gDNA | 613839 | 250 |
| Folate malabsorption, hereditary (gene SLC46A1) | gDNA | 229050 | 200 |
| Variants in folate receptor 2 gene (gene FOLR2) | gDNA | *136425 | 100 |
| Variants in folate receptor 3 gene (gene FOLR3) | gDNA | *602469 | 150 |
| Variants in reduced folate carrier 1 gene (gene SLC19A1) | gDNA | *600424 | 250 |
| Variants in mitochondrial folate transporter (gene SLC25A32) | gDNA | *610815 | 200 |
| Disorders in the metabolism of vitamins and (non-protein) cofactors - Disorders of cobalamin absorption, transport and metabolism | |||
| Methylmalonic aciduria, cblA type (gene MMAA) | gDNA, cDNA | 251100 | 300 |
| Methylmalonic aciduria, cblB type (gene MMAB) | gDNA, cDNA | 251110 | 450 |
| Disorders in the metabolism of vitamins and (non-protein) cofactors - Disorders of biotin metabolism | |||
| Biotinidase deficiency (gene BTD) | gDNA, cDNA | 253260 | 300 |
| Other disorders - out of the scope of inherited metabolic disorders | |||
| Alexander disease (gene GFAP) | gDNA, cDNA | 203450 | 350 |
| Amyloidosis due to deposits of apolipoprotein AI (gene ApoA1) | gDNA | 105200 | 200 |
| Amyloidosis due to deposits of transthyretin (gene TTR) | gDNA | 105210 | 200 |
| Amyloidosis caused by mutation of fibrinogen Aα chain (amyloid FAα) (gene FGA) | gDNA (Exon 5) | 105200 | 150 |
| CADASIL (gene NOTCH3) (exons 3-12 / all exons) | gDNA | 125310 | 500/1060 |
| Myofibrillar myopathy, desmin related (gene DES) | gDNA | 601419 | 300 |
| Myofibrillar myopathy, alpha-B-crystallin related (gene CRYAB) | gDNA | 608810 | 150 |
| Eye diseases | |||
| Best Vitelliform Macular Dystrophy (AD and AR inheritance, gene BEST1) | gDNA | 611809, 153700 | 580 |
| Choroideremia, X-Linked (gene CHM) | gDNA, MLPA | 303100 | 740 |
| Retinoschisis, X-Linked (gene RS1) | gDNA | 312700 | |
