GENE PANELS
MENDELIOME - MITOCHONDRIAL NUCLEAR 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
Analyses génomiques - Expert FR
2
Genome-wide genetic testing - Non-expert EN
2
Analyses génomiques - Non-experts FR
2
Genoomonderzoek in de genetica - Niet-expert NL
2
Genelist Mendeliome - Mitochondrial Nuclear Panel
11
Genoomonderzoek in de genetica - Expert NL
2
Genome-wide genetic testing - Expert EN
2
Verzendinstructies DNA stalen - NL
1
CONTACT
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 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 | 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 / 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
AARS2
ABAT
ABCB7
ACAD9
ACO2
ADPRHL2
AFG3L2
AGK
AIFM1
ALDH1B1
ANO10
APTX
ATAD3A
ATAD3B
ATAD3C
ATL1
ATL3
ATP5F1A
ATP5F1B
ATP5F1C
ATP5F1D
ATP5F1E
ATP5IF1
ATP5MC1
ATP5MC2
ATP5MC3
ATP5MD
ATP5ME
ATP5MF
ATP5MG
ATP5MGL
ATP5PB
ATP5PD
ATP5PF
ATP5PO
ATPAF1
ATPAF2
BCS1L
BOLA1
BOLA2
BOLA3
C12orf65
C19orf12
C1QBP
CARS2
CEP89
CHCHD10
CHKB
CLPB
CLPP
COA1
COA3
COA5
COA6
COA7
COA8
COASY
COQ2
COQ4
COQ6
COQ7
COQ8A
COQ8B
COQ9
COX10
COX14
COX15
COX20
COX4I1
COX4I2
COX5A
COX5B
COX6A1
COX6A2
COX6B1
COX6B2
COX6C
COX7A1
COX7A2
COX7A2L
COX7B
COX7B2
COX7C
COX8A
COX8C
CYC1
CYCS
DARS2
DDHD1
DES
DGUOK
DHTKD1
DLAT
DLD
DLST
DMAC2L
DNA2
DNAJC19
DNAJC3
DNM1L
EARS2
ECHS1
ECSIT
ELAC2
ETHE1
FARS2
FASTKD2
FBXL4
FDX2
FDXR
FH
FOXRED1
FXN
GARS
GATB
GATC
GATM
GFER
GFM1
GFM2
GLRX5
GLUD1
GTPBP3
HARS2
HCCS
HIBCH
HLCS
HSD17B10
HSPA9
HSPD1
HTRA2
IARS2
IBA57
ISCA1
ISCA2
ISCU
KARS
LACTB
LARS2
LIAS
LIPT1
LIPT2
LONP1
LRPPRC
LYRM4
LYRM7
MARS2
MCUR1
MDH2
MFF
MFN2
MGME1
MICOS13
MICU1
MIEF2
MMUT
MPC1
MPV17
MRM2
MRM3
MRPL12
MRPL3
MRPL44
MRPL57
MRPS14
MRPS16
MRPS2
MRPS22
MRPS34
MRPS7
MRRF
MSTO1
MTFMT
MTO1
MTPAP
NADK2
NARS2
NAXE
NDUFA1
NDUFA10
NDUFA11
NDUFA12
NDUFA13
NDUFA2
NDUFA3
NDUFA4
NDUFA5
NDUFA6
NDUFA7
NDUFA8
NDUFA9
NDUFAB1
NDUFAF1
NDUFAF2
NDUFAF3
NDUFAF4
NDUFAF5
NDUFAF6
NDUFAF7
NDUFB1
NDUFB10
NDUFB11
NDUFB2
NDUFB3
NDUFB4
NDUFB5
NDUFB6
NDUFB7
NDUFB8
NDUFB9
NDUFC1
NDUFC2
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS5
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NDUFV3
NFS1
NFU1
NSUN3
NUBPL
OGDH
OPA1
OPA3
OXA1L
PANK2
PARS2
PC
PDHA1
PDHB
PDHX
PDK1
PDK2
PDK3
PDK4
PDP1
PDSS1
PDSS2
PET100
PET117
PIGA
PINK1
PISD
PITRM1
PMPCA
PNPT1
POLG
POLG2
POLR3A
PPA2
PTRH2
PUS1
PYCR1
PYCR2
QRSL1
RARS2
REEP1
RMND1
RNASEH1
RRM2B
SARS2
SCO1
SCO2
SDHA
SDHAF1
SDHB
SDHD
SERAC1
SFXN4
SLC19A2
SLC19A3
SLC25A1
SLC25A12
SLC25A13
SLC25A19
SLC25A22
SLC25A24
SLC25A3
SLC25A32
SLC25A4
SLC25A46
SLC25A5
SLC25A6
SLC39A8
SPART
SPAST
SPATA5
SPG7
SQSTM1
STXBP1
SUCLA2
SUCLG1
SUCLG2
SURF1
TACO1
TANGO2
TARS2
TAZ
THG1L
TIMM44
TIMM50
TIMM8A
TIMMDC1
TK2
TMEM126A
TMEM126B
TMEM70
TPK1
TRIAP1
TRIT1
TRMT10C
TRMT5
TRMU
TRNT1
TSFM
TTC19
TUFM
TWNK
TXN2
TYMP
UBA52
UQCC1
UQCC2
UQCC3
UQCR10
UQCR11
UQCRB
UQCRC1
UQCRC2
UQCRFS1
UQCRH
UQCRQ
VARS2
VPS13B
WARS2
YARS2
YME1L1