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Lysosomal Storage Disorders
Test Information
- Title
-
Lysosomal Storage Disorders
- Category
- Metabolic
- Test Name (CMS Title)
-
Lysosomal Storage Disorders
- Gene/Platform/Region List
-
AGA, ARSA, ARSB, ASAH1, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, CTSD, CTSK, DNAJC5, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNPTAB, GNPTG, GNS, GRN, GUSB, HEXA, HEXB, HGSNAT, HYAL1, IDS, IDUA, LAMP2, LIPA, MAN2B1, MANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PPT1, PSAP, SGSH, SLC17A5, SMPD1, SUMF1, TPP1
- Test type
- Samples Accepted
- Blood, DNA
- Indications
- Diagnosis, Carrier Cascade Testing
- Test Methodology
- Sequencing
- Disease/Condition
-
Tay–Sachs disease, Sandhoff disease, GM2-gangliosidosis AB variant, Schindler disease, Fabry disease, Krabbe disease, Farber disease, Gaucher disease, Lysosomal acid lipase deficiency, Niemann–Pick disease, Metachromatic leukodystrophy, Multiple sulfatase deficiency, Hurler syndrome, Scheie syndrome, Sanfilippo syndrome, Maroteaux–Lamy syndrome, Sly syndrome, hyaluronidase deficiency, sialidosis, I-cell disease, pseudo-Hurler polydystrophy, phosphotransferase deficiency, mucolipidin 1 deficiency, Niemann–Pick disease, Santavuori–Haltia disease (infantile NCL), Jansky–Bielschowsky disease (late infantile NCL), Batten–Spielmeyer–Vogt disease (juvenile NCL), Kufs disease (adult NCL), Finnish Variant (late infantile), Northern epilepsy, Turkish late infantile, German/Serbian late infantile, Congenital cathepsin D deficiency, Wolman disease, Neuronal ceroid lipofuscinoses, Mucolipidosis, Mucopolysaccharidoses, Glucocerebroside, Sphingomyelinase, Sulfatidosis, Alpha-mannosidosis, Beta-mannosidosis, Aspartylglucosaminuria, Fucosidosis, Cystinosis, Pycnodysostosis, Salla disease (sialic acid storage disease), Infantile free sialic acid storage disease, Pompe disease, Danon disease, Cholesteryl ester storage disease
Last Updated: November 14, 2025
