List of diseases covered by
Lysosomal Storage Disease NGS panel
| Gene | Condition |
| AGA | Aspartylglucosaminuria |
| ARSA | Metachromatic leukodystrophy |
| ARSB | Mucopolysaccharidosis type VI (Maroteaux-Lamy) |
| ASAH1 | Farber lipogranulomatosis; Spinal muscular atrophy with progressive myoclonic epilepsy |
| CLN3 | Ceroid lipofuscinosis, neuronal, 3 |
| CLN5 | Ceroid lipofuscinosis, neuronal, 5 |
| CLN6 | Ceroid lipofuscinosis, neuronal, 6; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset |
| CLN8 | Ceroid lipofuscinosis, neuronal, 8; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant |
| CTNS | Cystinosis, atypical nephropathic; Cystinosis, late-onset juvenile or adolescent nephropathic; Cystinosis, ocular nonnephropathic |
| CTSA | Galactosialidosis |
| CTSC | Haim-Munk syndrome; Papillon-Lefevre syndrome; Periodontitis 1, juvenile |
| CTSD | Ceroid lipofuscinosis, neuronal, 10 |
| CTSK | Pycnodysostosis |
| DNAJC5 | Ceroid lipofuscinosis, neuronal, 4, Parry type |
| FUCA1 | Fucosidosis |
| GAA | Glycogen storage disease II |
| GALC | Krabbe disease |
| GALNS | Mucopolysaccharidosis IVA |
| GBA | Gaucher disease, perinatal lethal; Gaucher disease, type I; Gaucher disease, type II; Gaucher disease, type III; Gaucher disease, type IIIc |
| GLA | Fabry disease |
| GLB1 | GM1-gangliosidosis, type I; GM1-gangliosidosis, type II; GM1-gangliosidosis, type III; Mucopolysaccharidosis type IVB (Morquio) |
| GM2A | GM2-gangliosidosis, AB variant |
| GNPTAB | Mucolipidosis II alpha/beta; Mucolipidosis III alpha/beta |
| GNPTG | Mucolipidosis III gamma |
| GNS | Mucopolysaccharidosis type IIID |
| GUSB | Mucopolysaccharidosis VII |
| HEXA | GM2-gangliosidosis, several forms |
| HEXB | Sandhoff disease, infantile, juvenile, and adult forms |
| HGSNAT | Mucopolysaccharidosis type IIIC (Sanfilippo C); Retinitis pigmentosa 73 |
| HYAL1 | Mucopolysaccharidosis type IX |
| IDS | Mucopolysaccharidosis II |
| IDUA | Mucopolysaccharidosis Ih; Mucopolysaccharidosis Ih/s; Mucopolysaccharidosis Is |
| LAMP2 | Danon disease |
| LIPA | Cholesteryl ester storage disease |
| MAN2B1 | Mannosidosis, alpha-, types I and II |
| MANBA | Mannosidosis, beta |
| MCOLN1 | Mucolipidosis IV |
| MFSD8 | Ceroid lipofuscinosis, neuronal, 7; Macular dystrophy with central cone involvement |
| NAGA | Kanzaki disease; Schindler disease, type I |
| NAGLU | Mucopolysaccharidosis type IIIB (Sanfilippo B); Charcot-Marie-Tooth disease, axonal, type 2V |
| NEU1 | Sialidosis, type I |
| NPC1 | Niemann-Pick disease, type C1 |
| NPC2 | Niemann-pick disease, type C2 |
| PPT1 | Ceroid lipofuscinosis, neuronal, 1 |
| PSAP | Combined SAP deficiency; Gaucher disease, atypical; Krabbe disease, atypical; ‘ Metachromatic leukodystrophy due to SAP-b deficiency |
| SGSH | Mucopolysaccharidosis type IIIA (Sanfilippo A) |
| SLC17A5 | Sialic acid storage disorder, infantile; Salla disease |
| SMPD1 | Niemann-Pick disease, type A; Niemann-Pick disease, type B |
| SUMF1 | Multiple sulfatase deficiency |
| TPP1 | Ceroid lipofuscinosis, neuronal, 2; Spinocerebellar ataxia, autosomal recessive 7 |