qGenEx® SDD. Sex Development 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 SDD, analyzes 35 genes associated with Sex Development 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
AMH
AMHR2
AR
ARX
ATRX
CDKN1C
CHD7
CUL4B
CYB5A
CYP11A1
CYP11B1
CYP17A1
CYP19A1
CYP21A2
DHCR7
DHH
HSD17B3
HSD3B2
LHCGR
MAMLD1
MAP3K1
NR0B1
NR5A1
POR
RPL10
RSPO1
SAMD9
SGPL1
SOX10
SOX9
SRD5A2
SRY
STAR
TOE1
WT1

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.