GENE PANELS
STHT - GYNAECO PANEL
DETAILS
CERTIFICATES
141-MED (UZ Brussel)
INSTRUMENTS
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
CONTACT
Secretariaat Medische Genetica
+32 (0)2 477 64 79 (sec)
UZ Brussel
Centrum Medische Genetica
Laarbeeklaan 101
1090 Brussels
Freya Vaeyens
+32 (0)2 477 64 79 (sec)
UZ Brussel
Centrum Medische Genetica
Laarbeeklaan 101
1090 Brussels
SAMPLE TYPES
We aim to keep the list with sample types updated. However, if you believe we offer this gene panel on other sample types, or if you have a very specific sample type you'd like to evaluate : please contact the corresponding persons for either diagnostic or research purposes.
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 |
FFPE block of various tissues | Paraffin block (in cassette) | Representative block ; Tumor load preferentially >10% ; To be processed by our pathology department (microtome section needed) | Room temperature | DNA |
FFPE section of various tissues | Microtube* | Min. 1x 10 µm section (up to 2 mm³ tissue) ; Tumor load preferentially >10% | 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 / Hematologist | 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
AKT1
ALK
ANKRD26
AR
ARID1A
ATM
BARD1
BRAF
BRCA1
BRCA2
BRIP1
CDH1
CHEK1
CHEK2
CTNNB1
DICER1
DPYD
EGFR
ERBB2
ERBB3
ERBB4
ESR1
FGFR1
FGFR2
FGFR3
FLT3
FOXL2
GATA3
IL7R
KEAP1
KIT
KRAS
MLH1
MSH2
MSH6
MTOR
NBN
NF1
NF2
NTRK1
NTRK2
NTRK3
PALB2
PDGFRA
PDGFRB
PIK3CA
PIK3R1
PMS1 (MLH2)
PMS2 (MLH4)
POLD1
POLE
PTEN
PTPN11
RAD51B
RAD51C
RAD51D
RAD54L
RAF1 (CRAF)
RB1
ROBO1
ROBO2
STK11
TENT5C (FAM46C)
TP53
TSC1
TSC2
USP13