List of diseases covered by Lysosomal Storage Disease NGS panel

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

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

NGS panel with CNV


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

Lab method: MLPA

TAT: 4-6 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