qGenEx® CP. Ciliopathies

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

qGenEx CP, analyzes 92 genes associated with Ciliopathies 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
AHI1
ALMS1
ANKS6
ARL13B
ARL6
ARMC9
B9D2
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
CFAP410
C2CD3
CPLANE1
CC2D2A
CENPF
CEP104
CEP120
CEP164
CEP290
CEP41
CEP83
CRB2
CSPP1
DDX59
DHCR7
DYNC2H1
DYNC2LI1
EVC
EVC2
GLI3
HNF1B
HYLS1
CILK1
IFT122
IFT140
IFT172
IFT43
IFT52
IFT80
IFT81
INPP5E
INVS
IQCB1
KIAA0586
KIAA0753
KIF7
LBR
LZTFL1
MAPKBP1
MKKS
MKS1
NEK1
NEK8
NPHP1
NPHP3
NPHP4
OFD1
PIK3C2A
PKD1
PKD2
PKHD1
PMM2
RPGRIP1L
SBDS
SCLT1
SDCCAG8
TCTEX1D2
TCTN1
TCTN2
TCTN3
TMEM107
TMEM138
TMEM216
TMEM231
TMEM237
TMEM67
TRAF3IP1
TTC21B
TTC8
TXNDC15
VPS13B
WDPCP
WDR19
DYNC2I2
WDR35
DYNC2I1
ZSWIM6

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.