GENE PANELS

STHT - CONSTITUTIONAL PANEL

DETAILS

 
Version :
Status :
Size :
Website :
3.1
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52 genes
Extra info :
Method :

Capture based panel, using the Roche KAPA HyperPlus kit and KAPA HyperChoice probes

CERTIFICATES

 
141-MED (UZ Brussel)
141-MED (UZ Brussel)

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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Genelist STHT all constitutional v3

3.1

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STHT subpanels overview

3.1

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
EDTA tube
10 ml (min. 3 ml)
Room temperature
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

ABRAXAS1 (FAM175A)
ACD
ANKRD26
APC
ATM
BAP1
BARD1
BLM
BRCA1
BRCA2
BRIP1
CDH1
CDK4
CDKN2A
CDKN2B
CEBPA
CHEK2
DDX41
EPCAM
ETV6
GATA2
MEN1
MITF
MLH1
MRE11 (MRE11A)
MSH2
MSH6
MUTYH
NBN
NF1
NF2
PALB2
PHOX2B
PMS1 (MLH2)
PMS2 (MLH4)
POLD1
POLE
POT1
PTEN
PTPN11
RAD50
RAD51C
RAD51D
RET (MEN2)
RUNX1
STK11
SUFU
TERF2IP
TERT
TP53
VHL
XRCC2