Table 1 Genes included in the NGS-LSD assay and their associated disorders

SMPD1

Niemann-Pick Disease, Type A and B

NPC1

Niemann-Pick Disease, Type C1

NPC2

Niemann-Pick Disease, Type C2

LIPA

Wolman Disease

GLA

Fabry Disease

GLB1

GM1-Gangliosidosis, Type I, II, III

GM2A

GM2-Gangliosidosis, AB Variant

HEXA

Tay-Sachs Disease

HEXB

Sandhoff Disease

GBA

Gaucher Disease

GAA

Pompe Disease

IDUA

MPS I: Hurler/Scheie

IDS

MPS II: Hunter Syndrome

SGSH

MPS IIIA: Sanfilippo Type A

NAGLU

MPS IIIB: Sanfilippo Type B

HGSNAT

MPS IIIC: Sanfilippo Type C

GNS

MPS IIID: Sanfilippo Type D

GALNS

MPS IVA: Morquio A

GLB1

MPS IVB: Morquio B

ARSB

MPS VI: Maroteaux-Lamy Syndrome

GUSB

MPS VII: Sly Syndrome

HYAL1

MPS IX

ASAH1

Farber Disease

ARSA

Metachromatic Leukodystrophy

GALC

Krabbe Disease

PSAP

Prosaposin deficiency

NEU1

Mucolipidosis I: Sialidosis

FUCA1

Fucosidosis

LAMP2

Danon Disease: Glycogen Storage Disease IIB

LAMP3

Candidate Gene For LSD

GNPTAB

Mucolipidosis II Alpha/Beta

GNPTG

Mucolipidosis III Gamma

MCOLN1

Mucolipidosis IV: Sialolipidosis

MAN2B1

Mannosidosis, Alpha B, Lysosomal

MANBA

Mannosidosis, Beta A, Lysosomal

PPT1

Ceroid Lipofuscinosis, Neuronal, 1

TPP1

Ceroid Lipofuscinosis, Neuronal, 2

CLN3

Ceroid Lipofuscinosis, Neuronal, 3 (Batten Disease)

CLN5

Ceroid Lipofuscinosis, Neuronal, 5

CLN6

Ceroid Lipofuscinosis, Neuronal, 6

CLN7

Ceroid Lipofuscinosis, Neuronal, 7

CLN8

Ceroid Lipofuscinosis, Neuronal, 8

CLN10

Ceroid Lipofuscinosis, Neuronal, 10

CTSA

Galactosialidosis

CTNS

Cystinosis

SLC17A5

Sialic Acid Storage Disease

CTSK

Pyknodysostosis

NAGA

Schindler Disease

SUMF1

Multiple Sulfatase Deficiency

HPS1

Hermansky-Pudlak Syndrome Type 1

AP3B1

Hermansky-Pudlak Syndrome Type 2

HPS3

Hermansky-Pudlak Syndrome Type 3

HPS4

Hermansky-Pudlak Syndrome Type 4

HPS5

Hermansky-Pudlak Syndrome Type 5

HPS6

Hermansky-Pudlak Syndrome Type 6

DTNBP1

Hermansky-Pudlak Syndrome Type 7

BLOC1S3

Hermansky-Pudlak Syndrome Type 8