GENE PANELS
MENDELIOME - METABOLIC DISORDERS (MD)
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
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Genome-wide genetic testing - Non-expert EN
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Analyses génomiques - Non-experts FR
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Genoomonderzoek in de genetica - Niet-expert NL
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Genelist Mendeliome - Metabolic Disorders (MD)
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Genoomonderzoek in de genetica - Expert NL
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Genome-wide genetic testing - Expert EN
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Verzendinstructies DNA stalen - NL
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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
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
MOGS
MPDU1
MPI
MMUT
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