GENE PANELS
EXOME - MITOCHONDRIAL NUCLEAR PANEL (MITO)
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.
* 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.
Blood > DNA
DBS / Guthrie card / Punch in microtube*
Min. 1 punch
Room temperature
Blood > DNA
EDTA tube
10 ml (min. 3 ml)
Room temperature
Cells of various tissue origins > DNA
Microtube* with cell pellet or on lysis buffer
> 5 million cells
Dry ice
DNA from various tissues > DNA
Microtube* or 96 well plate
See test details/specifications
Room temperature
Tissue of various origins > DNA
Cryovial containing stabilizer (eg. AllProtect) or tissue homogenized on lysis buffer
Application/tissue specific (contact us)
Dry ice
Extra requirements
Absorbance ratio A260/A230 - Minimum
DNA from various tissues
Minimum: 1,5
Lower values are indicative for indicative for EDTA, carbohydrate, chaotropic salts (and also protein) contamination
Absorbance ratio A260/A280 - Minimum
DNA from various tissues
Minimum: 1,5
Lower values are indicative for indicative for protein, phenol or other aromatic compound contamination
Elution buffer : nuclease free water, Tris-HCl or TE
DNA from various tissues
:
Please use nuclease free elution buffers, however this assay is compatible with either water, Tris-HCl as TE.
Minimum DNA concentration
DNA from various tissues
Minimum: 7,7 ng/µl
A minimum concentration of 7,7 ng/µl is required, however succesfull experiments are possible below this limit.
Minimum DNA quantity
DNA from various tissues
Minimum: 200 ng
We prefer delivery of at least 1 µg of DNA
Deliverables
Below, you can find the type of data files that can be retrieved for this test.
If you require more information or need a more custom output, please consult our Bioinformatics page.
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)
Costs
For Diagnostic testing
When requested through your General Practitioner / Clinical Geneticist / Pathologist / Hematologist, costs will be covered through your health insurance. The costs involved will be those for your consultation and/or 'remgeld'.
For Research testing
Below, you can find indicative prices (excl. VAT) for all potential options you'd require to accomplish your project. If you are interested, please contact us to receive a tailored quotation.
Update pending
Our prices are being updated. More info soon.
Documents & certificates
Validated
Plan experiment
For Diagnostics
This test is mainly performed as a diagnostic assay. In this case, please contact your General Practitioner or Clinical Geneticist (Centre for Medical Genetics of choice) to get the diagnosis started.
For Research
This test can also be applied in context of research. For this, please get approval from your local ethical committee and/or make proper arrangements with your Biobank.
Please follow the steps below to start up an experiment with us.
Get in touch (ONLY FOR NEW PROJECTS)
Explain your project, so we can assist you to find the best solution.
Expect questions like :
What type of sample would you like to analyze?
Which elution buffer did you use?
What are the expected concentrations of your samples?
How many samples would you like to process?
How fast do you need the results (TAT) and/or do we need to expedite?
If you deviate from our sample types, are there test samples available?
Are our standard deliverables ok?
...
1
Request quotation
Once you know which experiment you want to set up, fill out the 'Quote request' form, with the essential details of your project :
Coordinates of the person to whom to address the quotation
Which type of test you'd like to set up
Do you require a specific deliverable?
Do we need to expedite (comes at extra cost)?
...
2
Submit your samples
Once you agree with our terms (quote / TAT / terms & conditions) :
Fill out our sample submission form
Send it via email : contact us
Print out the form and include it with your samples
Send your samples to us
Label your tubes/plates correctly : see details here
Adhere to the corresponding transport conditions listed under Sample types
Indicate if we can discard your samples after completion of project
3
Your experiment starts
Now it is up to us... We will start your experiment as soon as possible.
When expedited, the turn-around-time (TAT) is 1 month
For standard requests the turn-around-time (TAT) is 2 months
The standard TAT is generally overestimated, but this extended timeframe allows us to : combine similar requests of multiple scientists and to repeat the experiment in case of issues.
Please refrain from contacting us in case the pre-agreed TAT didn't expire yet.
4
Genelist
AARS2
ABAT
ABCA4
ABCB7
ACAD9
ACADM
ACADS
ACADSB
ACADVL
ACAT1
ACO2
ADPRS
AFG3L2
AGK
AIFM1
AK3
ALDH1B1
ALDH5A1
AMACR
ANO10
APOO
APTX
ATAD3A
ATAD3B
ATAD3C
ATG12
ATL1
ATL3
ATP5F1A
ATP5F1B
ATP5F1C
ATP5F1D
ATP5F1E
ATP5IF1
ATP5MC1
ATP5MC2
ATP5MC3
ATP5ME
ATP5MF
ATP5MG
ATP5MGL
ATP5MK
ATP5PB
ATP5PD
ATP5PF
ATP5PO
ATPAF1
ATPAF2
BCS1L
BOLA1
BOLA2
BOLA3
BTD
C19orf12
C1QBP
CAPN3
CARS2
CEP89
CHCHD10
CHCHD4
CHKB
CIAO1
CISD2
CLPB
CLPP
CMPK2
COA1
COA3
COA5
COA6
COA7
COA8
COASY
COQ2
COQ4
COQ5
COQ6
COQ7
COQ8A
COQ8B
COQ9
COX10
COX11
COX14
COX15
COX18
COX20
COX4I1
COX4I2
COX5A
COX5B
COX6A1
COX6A2
COX6B1
COX6B2
COX6C
COX7A1
COX7A2
COX7A2L
COX7B
COX7B2
COX7C
COX8A
COX8C
CPT1A
CPT2
CRLS1
CYC1
CYCS
D2HGDH
DAP3
DARS2
DDHD1
DES
DGUOK
DHTKD1
DHX16
DLAT
DLD
DLST
DMAC2L
DNA2
DNAJC19
DNAJC3
DNAJC30
DNM1L
DNM2
EARS2
ECHS1
ECSIT
ELAC2
ERAL1
ERCC6L2
ETFA
ETFB
ETFDH
ETHE1
EXOSC3
FARS2
FASTKD2
FASTKD5
FBXL4
FDX2
FDXR
FH
FLAD1
FOXRED1
FSIP1
FXN
GARS1
GATB
GATC
GATM
GCH1
GDAP1
GFER
GFM1
GFM2
GLRX5
GLUD1
GPD1
GPT2
GTPBP3
GUF1
GUK1
HACD1
HARS2
HCCS
HIBCH
HLCS
HSD17B10
HSPA9
HSPD1
HTRA2
IARS2
IBA57
IMMT
ISCA1
ISCA2
ISCU
KARS1
L2HGDH
LACTB
LARS2
LETM1
LIAS
LIG3
LIPT1
LIPT2
LONP1
LRPPRC
LYRM4
LYRM7
MARS2
MCAT
MCUR1
MDH2
ME2
MECR
MFF
MFN2
MGME1
MICOS13
MICU1
MICU2
MIEF2
MIPEP
MMUT
MORC2
MPC1
MPC2
MPV17
MRM2
MRM3
MRPL12
MRPL3
MRPL39
MRPL42
MRPL44
MRPL49
MRPL57
MRPS14
MRPS16
MRPS2
MRPS22
MRPS25
MRPS34
MRPS7
MRRF
MSTO1
MTFMT
MTO1
MTPAP
MTRFR
MYH2
NADK2
NARS2
NAXD
NAXE
NDUFA1
NDUFA10
NDUFA11
NDUFA12
NDUFA13
NDUFA2
NDUFA3
NDUFA4
NDUFA5
NDUFA6
NDUFA7
NDUFA8
NDUFA9
NDUFAB1
NDUFAF1
NDUFAF2
NDUFAF3
NDUFAF4
NDUFAF5
NDUFAF6
NDUFAF7
NDUFAF8
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
NME3
NR2F1
NSUN3
NUBPL
OGDH
OGDHL
OPA1
OPA3
OXA1L
PAM16
PANK2
PARS2
PC
PDE12
PDHA1
PDHB
PDHX
PDK1
PDK2
PDK3
PDK4
PDP1
PDSS1
PDSS2
PET100
PET117
PHB1
PIGA
PINK1
PISD
PITRM1
PLA2G6
PMPCA
PMPCB
PNPLA4
PNPLA8
PNPT1
POLG
POLG2
POLR3A
POLRMT
PPA2
PPOX
PREPL
PRORP
PTCD3
PTPMT1
PTRH2
PUS1
PYCR1
PYCR2
PYROXD2
QARS1
QRSL1
RARS2
REEP1
RMND1
RMRP
RNASEH1
RNU4-2
RPE65
RRM2B
RTN4IP1
SACS
SARS2
SCO1
SCO2
SDHA
SDHAF1
SDHAF2
SDHB
SDHC
SDHD
SERAC1
SFXN4
SLC19A2
SLC19A3
SLC22A5
SLC25A1
SLC25A10
SLC25A12
SLC25A13
SLC25A19
SLC25A20
SLC25A21
SLC25A22
SLC25A24
SLC25A26
SLC25A3
SLC25A32
SLC25A36
SLC25A38
SLC25A4
SLC25A42
SLC25A46
SLC25A6
SLC39A8
SLC52A2
SLC52A3
SPART
SPAST
SPATA5
SPG7
SQSTM1
SSBP1
STARD7
STAT2
STXBP1
SUCLA2
SUCLG1
SUCLG2
SURF1
TACO1
TAMM41
TANGO2
TARS2
TEFM
TFAM
THG1L
TIMM22
TIMM29
TIMM50
TIMM8A
TIMMDC1
TK2
TM2D3
TMEM126A
TMEM126B
TMEM230
TMEM65
TMEM70
TOMM7
TOMM70
TOP3A
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
VPS13C
VPS13D
WARS2
WWTR1
XPNPEP3
YARS2
YME1L1
ZNHIT3