Table 2.
Results obtained for positive controls included in NGS-LSD assay
| CC | GENE | REF_SEC | NT CHANGE | AA CHANGE | ZIG | MD | DIAGNOSIS | OMIM |
|---|---|---|---|---|---|---|---|---|
| C1 |
ARSA |
NM_000487 |
c.1046delC |
p.P349fs |
HO |
+ |
Metachromatic leukodystrophy |
250100 |
| C2 |
CLN3 |
NM_000086 |
c.461-280_677 + 382del966 |
p.[Gly154Alafs*29, Val155_Gly264del] |
HO |
+ |
Ceroid lipofuscinosis, neuronal, 3 |
204200 |
| C3 |
FUCA1 |
NM_000147 |
c.464C > T |
p.S155F |
HT |
- |
Fucosidosis |
230000 |
| |
FUCA1 |
NM_000147 |
c.790C > T |
p.R264X |
HT |
- |
|
|
| C4 |
GALNS |
NM_000512 |
c.281G > T |
p.R94L |
HO |
+ |
Mucopolysaccharidosis type IVA |
253000 |
| C5 |
GLB1 |
NM_000404 |
c.1581G > A |
p.W527X |
HO |
+ |
GM1 gangliosidosis |
230500 |
| C6 |
GNPTAB |
NM_024312 |
c.1208 T > C |
p.I403T |
HT |
+ |
Mucolipidosis III alpha/beta |
252600 |
| |
GNPTAB |
NM_024312 |
c.1999G > T |
p.E667X |
HT |
+ |
|
|
| C7 |
GUSB |
NM_000181 |
c.526C > T |
p.L176F |
HT |
+ |
Mucopolysaccharidosis VII |
253220 |
| |
GUSB |
NM_000181 |
c.530C > T |
p.T177I |
HT |
- |
|
|
| C8 |
NAGLU |
NM_000263 |
c.900C > T |
p.R234C |
HT |
+ |
Sanfilippo B |
252920 |
| C9 |
NEU1 |
NM_000434 |
c.700G > A |
p.D234N |
HT |
+ |
Sialidosis |
256550 |
| |
NEU1 |
NM_000434 |
c.1021C > T |
p.R341X |
HT |
+ |
|
|
| C10 |
SGSH |
NM_000199 |
c.120C > G |
p.Y40X |
HO |
+ |
Sanfilippo A |
252900 |
| C11 |
SMPD1 |
NM_000543 |
c.739G > A |
p.G247S |
HO |
+ |
Niemann-Pick disease, type A |
257200 |
| C12 |
TPP1 |
NM_000391 |
c. 622C > T |
p.R208X |
HO |
+ |
Ceroid lipofuscinosis, neuronal, 1 |
256730 |
| C13 |
CTSA |
NM_000308 |
c.448G > A |
p.V150M |
HT |
- |
Galactosialidosis |
256540 |
| |
CTSA |
NM_000308 |
c.284delC |
p.P95Lfs |
HT |
- |
|
|
| C14 |
NPC1 |
NM_000271 |
c.1552C > T |
p.R518W |
HT |
+ |
Niemann-Pick disease, type C |
257220 |
| C15 |
NPC1 |
NM_000271 |
c.2594C > T |
p.S865L |
HT |
+ |
Niemann-Pick disease, type C |
257220 |
| C16 |
SLC17A5 |
NM_012434 |
c.918 T > G |
p.Y306X |
HT |
+ |
Sialic acid storage disorder,infantile |
269920 |
| |
SLC17A5 |
NM_012434 |
c.500 T > C |
p.L167P |
HT |
- |
|
|
| C17 |
ARSB |
NM_000046 |
c.427delG |
p.V143Sfs |
HO |
+ |
Mucopolysaccharidosis VI |
253200 |
| C18 | CLN3 | NM_000086 | c.461-280_677 + 382del966 | p.[Gly154Alafs*29, Val155_Gly264del] | HT | + | Ceroid lipofuscinosis, neuronal, 3 | 204200 |
CC: Control Code (C1-C12 processed with SOLiD4 platform; C13-C18 processed with HiSeq2000); REF SEQ: reference sequence for which mutations are annotated; NT and AA CHANGE: nucleotide and amino acid change; ZIG: zigosity; HO: homozygotes; HT: heterozygotes; MD: Mutation description in Human Gene Mutation Database (+: previously associated with pathology; −: not previously associated).