qGenEx® SD. Skin 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 CA, analyzes 109 genes associated with Skin 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
AAGAB
ABCA12
ALAS2
ALDH3A2
ALOX12B
ALOXE3
ANAPC1
APCDD1
AQP5
ATP2C1
CARD11
CARD14
CAST
CDH3
CDSN
CERS3
COL17A1
COL7A1
CSTA
CTSC
CYP4F22
DOCK8
DSC2
DSG1
DSG4
DSP
DST
EDA
EDAR
EDARADD
ENPP1
EXPH5
FDPS
FECH
FERMT1
FLG2
GJA1
GJB2
GJB3
GJB4
GJB6
HOXC13
HR
IKBKG
IL36RN
ITGA3
ITGA6
ITGB4
JUP
KDSR
KLHL24
KRT1
KRT10
KRT14
KRT16
KRT17
KRT5
KRT6A
KRT6B
KRT6C
KRT74
KRT85
KRT9
LAMA3
LAMB3
LAMC2
LIPH
LPAR6
LSS
MBTPS2
MSX1
MVD
MVK
NCSTN
NECTIN1
NECTIN4
NFKB2
NFKBIA
NIPAL4
PGM3
PKP1
PLEC
PNPLA1
PORCN
PSEN1
PSENEN
RHBDF2
RMRP
RSPO1
SDR9C7
SERPINB7
SERPINB8
SLC27A4
SLC39A4
SLURP1
SNAP29
SPINK5
ST14
STAT3
STS
SULT2B1
TAT
TGM1
TGM5
TP63
TRPV3
TSPEAR
UVSSA
WNT10A

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.