qGenEx® MiD. Mitochondrial Disorders

Within the qGenEx services, the directed exome panels allow to restrict the study to a specific group of genes according to each specialty.

qGenEx MiD, analyzes 250 genes associated with Mitochondrial Disorders using complete exome sequencing by NGS.

Use the search engine to find the group of genes included in the panel related to the pathology you are interested in:
gene
ATP6
ATP8
COX1
COX2
COX3
CYTB
ND1
ND2
ND3
ND4
ND4L
ND5
ND6
RNR1
tRNA-Ala
tRNA-Cys
tRNA-Asp
tRNA-Glu
tRNA-Phe
tRNA-Gly
tRNA-His
tRNA-Ile
tRNA-Lys
tRNA-Leu1
tRNA-Leu2
tRNA-Met
tRNA-Asn
tRNA-Pro
tRNA-Gln
tRNA-Arg
tRNA-Ser1
tRNA-Ser2
tRNA-Val
tRNA-Trp
tRNA-Tyr
AARS2
ABAT
ABCB7
ACAD9
ACO2
AFG3L2
AGK
AIFM1
ANO10
COA8
APTX
ATAD3A
ATP5F1D
ATPAF2
BCS1L
BOLA3
BTD
C12orf65
MICOS13
C1QBP
CA5A
CARS2
CHCHD10
CLPB
CLPP
COA6
COA7
COQ2
COQ4
COQ6
COQ7
COQ8A
COQ8B
COQ9
COX10
COX14
COX15
COX20
COX6A1
COX6B1
COX7B
CYC1
DARS2
DGUOK
DLAT
DLD
DMPK
DNA2
DNAJC19
DNM1L
DNM2
EARS2
ECHS1
ELAC2
ETFDH
ETHE1
FARS2
FASTKD2
FBXL4
FDX2
FDXR
FH
FLAD1
FOXRED1
GARS1
GDAP1
GFER
GFM1
GFM2
GLRX5
GTPBP3
HARS2
HCCS
HIBCH
HLCS
HSD17B10
HSPD1
HTRA2
IARS2
IBA57
ISCA1
ISCA2
ISCU
KARS1
LARS2
LIAS
LIPT1
LIPT2
LONP1
LRPPRC
LYRM7
MARS2
MDH2
MECR
MFF
MFN2
MGME1
MICU1
MIPEP
MPC1
MPV17
MRPL3
MRPL44
MRPS2
MRPS22
MRPS34
MSTO1
MTFMT
MTO1
MTPAP
NADK2
NARS2
NAXE
NDUFA1
NDUFA10
NDUFA11
NDUFA2
NDUFA4
NDUFA6
NDUFA9
NDUFAF1
NDUFAF2
NDUFAF3
NDUFAF4
NDUFAF5
NDUFAF6
NDUFAF8
NDUFB11
NDUFB3
NDUFB8
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NFU1
NUBPL
OPA1
OPA3
PARS2
PC
PDHA1
PDHB
PDHX
PDP1
PDSS1
PDSS2
PET100
PMPCA
PMPCB
PNPLA8
PNPT1
POLG
POLG2
PPA2
PUS1
QRSL1
RARS2
RMND1
RNASEH1
RRM2B
RTN4IP1
SACS
SARS2
SCO1
SCO2
SDHA
SDHAF1
SDHD
SERAC1
SFXN4
SLC19A2
SLC19A3
SLC25A1
SLC25A12
SLC25A19
SLC25A26
SLC25A3
SLC25A32
SLC25A38
SLC25A4
SLC25A42
SLC25A46
SPG7
SUCLA2
SUCLG1
SURF1
TACO1
TAZ
TIMM50
TIMM8A
TK2
TMEM126B
TMEM70
TOP3A
TPK1
TRIT1
TRMT10C
TRMT5
TRMU
TRNT1
TSFM
TTC19
TUFM
TWNK
TYMP
UQCC2
UQCRB
VARS2
WARS2
YARS2

One analysis for each specialty… and for All.

Download the informed consent document HERE

Access the order platform Print application form
How to order a test
  1. Identify the adequate test from our service catalogue.
  2. Prepare the test application form and fill in all the information available both for the sample and the clinical record to guarantee highest quality of test results and shortest response time.
  3. It is crucial to correctly identify the sample with patient name or identifier and date of birth.
  4. Print the completed application form and sign it.
  5. Collect the required sample quantity.
  6. Properly prepare the sample shipment along with the application form.
  7. Alternatively, the order can be processed conveniently via our online order platform.
Required specifications for biologic samples
  • Blood – 1 EDTA tube with 3-5 ml (children 1ml minimum)
  • Purified DNA – usually >5 ug, at >50 ng/ul
  • Saliva or buccal swab – Request collection kit
  • Blood on filter paper – A minimum of 10 spots on Guthrie card or filter paper
  • Amniotic fluid – Minimum of 10 ml
  • CVS – Minimum of 2-3 villi
  • Cord blood – Minimum 1 ml
  • Cultured cells – 1 vial of 25 ml, minimum 80% confluence
  • Biopsy or fresh tissue – More than 10 mg of tissue
  • Paraffin-embedded tissue – At least 10 cuts of 20 um
  • cfDNA – 1 tube DNA BCT Streck with 10 ml of blood
How to prepare your sample for shipping

Call us at +34 932.301.270 and we will take care of a smooth sample pick-up and shipping.

How to prepare your sample for shipping?

  • Blood-EDTA, purified DNA, saliva, blood on paper, cord blood, biopsy, … are stable at room temperature for 3 or 4 days. Samples can be sent, adequately protected, by ordinary mail or courier.
  • Amniotic fluid (a minimum of 10 ml collected in a sterile falcon test tube). Can be sent at room temperature and low temperatures should be avoided. Samples should reach our laboratory in no more than 24 hours.
  • Chorionic villi samples must travel in the same way, in a tube with conical bottom FILLED TO CAPACITY with PBS or culture medium.
  • Cultured cells should be shipped at room temperature, in a culture flask filled to capacity with culture medium.
  • Blood for cfDNA analysis: must be shipped at room temperature.