GENE PANELS

MENDELIOME - LYSOSOMAL STORAGE DISEASE (LSD)

DETAILS

 
Version :
Status :
Size :
Website :
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64 genes
Extra info :

LSDGP

Method :

Capture based panel, using the NEBNext Ultra II FS DNA Library Prep Kit for Illumina and IDT xGen Exome Hybridization Panel

CERTIFICATES

 
245-MED (Hopital Erasme)
245-MED (Hopital Erasme)

INSTRUMENTS

 
Illumina NovaSeq 6000
Illumina NovaSeq 6000

Our highest capacity short read sequencer. This device can generate reads up to 250 bp in length (on the SP flowcell) and generate up to 10B reads per flowcell (S4).

DOWNLOADS

 
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Analyses génomiques - Expert FR

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Flyer2 GW testing white borders_edited.j
Genome-wide genetic testing - Non-expert EN

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Flyer2 GW testing white borders_edited.j
Analyses génomiques - Non-experts FR

2

Flyer2 GW testing white borders_edited.j
Genoomonderzoek in de genetica - Niet-expert NL

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Flyer2 GW testing white borders_edited.j
Genelist Mendeliome - Lysosomal Storage Disease (LSD)

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Flyer2 GW testing white borders_edited.j
Genoomonderzoek in de genetica - Expert NL

2

Flyer2 GW testing white borders_edited.j
Genome-wide genetic testing - Expert EN

2

CONTACT

 
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Secretariaat Medische Genetica

+32 (0)2 477 64 79 (sec)

UZ Brussel

Centrum Medische Genetica

Laarbeeklaan 101

1090 Brussels

SAMPLE TYPES

 

We aim to keep te list with sample types updated. However, if you believe we offer this gene panel on other sample types, of if you have a very specific sample type you'd like to evaluate : please contact the corresponding persons for either diagnostic or research purposes.

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Tissue
Recipient
Quantity
Transport
Purpose / Extract
Blood
DBS / Guthrie card / Punch in microtube*
Min. 1 punch
Room temperature
DNA
Blood
EDTA tube
10 ml (min. 3 ml)
Room temperature
DNA
Cells of various tissue origins
Microtube* with cell pellet or on lysis buffer
> 5 million cells
Dry ice
DNA
DNA from various tissues
Microtube*
See test details/specifications
Room temperature
DNA
DNA from various tissues
Microtube* or 96 well plate
See test details/specifications
Room temperature
DNA
Tissue of various origins
Cryovial containing stabilizer (eg. AllProtect) or tissue homogenized on lysis buffer
Application/tissue specific (contact us)
Dry ice
DNA

* Microtube can be  a either a cryovial or eppendorf tube (0,5 ; 1,5 or 2 ml). Please consider the quality of the tube used (nuclease free ; free of RNA/DNA ; sterile ; LoBind) according to application needed.  

DELIVERABLES

 

Which data files can be retrieved from us for this specific gene panel?

Deliverable
Description
Research or diagnostic
Called variants - vcf file
Text file containing all detected variants as compared to the relevant reference genome
Diagnostic / RUO
Clinical report
Diagnostic report generated by Clinical Geneticist/ Pathologist
Diagnostic
Raw data - bam file
Binary data file containing the aligned reads
RUO (on request)
Raw data - fastq file
Data file containing the raw (unaligned) reads
RUO (on request)
Run folder
The complete run folder can be transferred if it concerns a run reservation (private run)
RUO (on request)
 

GENELIST

ADCY5
AGA
ARSA
ARSB
ASAH1
CHIT1
CLN3
CLN5
CLN6
CLN8
CTNS
CTSA
CTSC
CTSD
CTSK
DGUOK
FBXL4
FUCA1
GAA
GALC
GALNS
GBA
GLA
GLB1
GM2A
GNPTAB
GNPTG
GNS
GUSB
HEXA
HEXB
HGSNAT
HYAL1
IDS
IDUA
LAMP2
LIPA
MAN2B1
MANBA
MCOLN1
MFSD8
MGME1
MPV17
NAGA
NAGLU
NEU1
NPC1
NPC2
OCRL
POLG
PPT1
PSAP
RRM2B
SGSH
SLC17A5
SMPD1
STS
SUCLA2
SUCLG1
SUMF1
TK2
TPP1
TWNK
TYMP