
GENE PANELS
EXOME - METABOLIC DISORDERS (MD)
DETAILS
CERTIFICATES

Validated
INSTRUMENTS
MGI DNBSEQ-T7
Our highest capacity short read sequencer. This device can generate up to 5,8B reads per flowcell. We standardly run SE50 bp and PE150 bp runs, but read length can be flexibily adjusted (to >200 bp).
DOWNLOADS
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.
* 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.
Research portfolio

Blood > cfDNA/ctDNA
Streck Cell-Free DNA BCT
9 ml
Room temperature

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

FFPE block of various tissues > DNA
Paraffin block (in cassette)
Representative block ; Tumor load preferentially >10% ; To be processed by our pathology department (microtome section needed)
Room temperature

FFPE section of various tissues > DNA
Microtube*
Min. 1x 10 µm section (up to 2 mm³ tissue) ; Tumor load preferentially >10%
Room temperature

Plasma > cfDNA/ctDNA
DNA LoBind 5 ml tube
> 2ml
Dry ice

Tissue of various origins > DNA
Cryovial containing stabilizer (eg. AllProtect) or tissue homogenized on lysis buffer
Application/tissue specific (contact us)
Dry ice
Diagnostic portfolio

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
Specific sample recommendations / requirements
Absorbance ratio A260/A230 - Minimum
Optimum : 1,5 [Acceptable range (-)]
DNA from various tissues
Lower values are indicative for indicative for EDTA, carbohydrate, chaotropic salts (and also protein) contamination
Absorbance ratio A260/A280 - Minimum
Optimum : 1,5 [Acceptable range (-)]
DNA from various tissues
Lower values are indicative for indicative for protein, phenol or other aromatic compound contamination
Elution buffer : nuclease free water, Tris-HCl or TE
Optimum : [Acceptable range (-)]
Please use nuclease free elution buffers, however this assay is compatible with either water, Tris-HCl as TE.
DNA from various tissues
Minimum DNA concentration
Optimum : 7,7 [Acceptable range (-)]
DNA from various tissues
A minimum concentration of 7,7 ng/µl is required, however succesfull experiments are possible below this limit.
Minimum DNA quantity
Optimum : 200 [Acceptable range (-)]
DNA from various tissues
We prefer delivery of at least 1 µg of DNA
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) |
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
ABAT
ABCD1
ACAT1
ACOX1
AGL
AGPS
AGXT
ALDH18A1
ALDH7A1
ALDOA
ALDOB
ALG1
ALG10
ALG11
ALG12
ALG13
ALG14
ALG2
ALG3
ALG5
ALG6
ALG8
ALG9
AMACR
AMT
ASPA
ATP6AP1
ATP6V0A2
ATP6V1A
ATP6V1E1
ATP7A
ATP9B
B3GALNT2
B3GALT6
B3GAT3
B3GLCT
B4GALNT1
B4GALT1
B4GALT7
BCKDHA
BCKDHB
BTD
CAD
CCDC115
CHST14
CHST3
CHST6
CHSY1
COG1
COG2
COG3
COG4
COG5
COG6
COG7
COG8
CRPPA
CTH
D2HGDH
DAD1
DBH
DBT
DDC
DDOST
DHDDS
DNM1L
DOLK
DPAGT1
DPM1
DPM2
DPM3
ENO3
EOGT
EXT1
EXT2
FAH
FKRP
FKTN
FUT1
G6PC
GAA
GABRG2
GALE
GALK1
GALNT3
GALT
GAMT
GANAB
GATM
GBE1
GCDH
GCH1
GCSH
GFPT1
GLDC
GMPPA
GMPPB
GNE
GNMT
GNPAT
GYS1
GYS2
HGD
HLCS
HMGCL
HPRT1
HSD17B4
IVD
LAMP2
LARGE1
LDHA
LFNG
MAGT1
MAN1B1
MAOA
MCCC1
MCCC2
MGAT2
MMAA
MMAB
MMACHC
MMUT
MOCS3
MOGS
MPDU1
MPI
NANS
NGLY1
NUS1
OAT
OST4
PCCA
PCCB
PEX1
PEX10
PEX11B
PEX12
PEX13
PEX14
PEX16
PEX19
PEX2
PEX26
PEX3
PEX5
PEX6
PEX7
PFKM
PGAM2
PGAP1
PGAP2
PGAP3
PGM1
PGM2
PGM3
PHGDH
PHKA1
PHKA2
PHKB
PHKG2
PIGA
PIGC
PIGG
PIGL
PIGM
PIGN
PIGO
PIGV
PIGW
PIGY
PMM2
PNPO
POFUT1
POGLUT1
POMGNT1
POMT1
POMT2
PRKCSH
PSAT1
PYGL
PYGM
RFT1
RPN1
RPN2
RXYLT1
SCP2
SEC23B
SLC25A22
SLC2A1
SLC35A1
SLC35A2
SLC35A3
SLC35C1
SLC35D1
SLC39A8
SLC3A1
SLC6A19
SLC6A8
SLC7A9
SPR
SRD5A3
SSR3
SSR4
ST3GAL3
ST3GAL5
STT3A
STT3B
TMEM165
TMEM199
TRAPPC11
TUSC3
VPS13B
XYLT1
XYLT2



