Lysosomal Storage Disease

List of diseases covered by Lysosomal Storage Disease NGS panel

Published 19/06/2018

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

Lysosomal Storage Disease NGS panel

Published 31/10/2017

Lysosomal Storage Disease
NGS panel

Genes
(full coding
region):

AGA, ARSA, ARSB, ASAH1, CLN3, CLN5. CLN6, CLN8, CTNS, CTSA, CTSC, CTSD, CTSK, DNAJC5, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNPTAB, GNPTG, GNS, 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

List of diseases covered by the panel

Lab method:

NGS panel with CNV analysis

TAT:

6-9 weeks

Specimen requirements:

2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.

Ordering information:

Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes:

GLA, HEXA, IDS, NPC1, NPC2, SMPD1