qGenEx® HH. Hypogonadotrophic Hypogonadism

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

qGenEx HH, analyzes 31 genes associated with Hypogonadotrophic Hypogonadism 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:
GeneMedian coverage% covered > 10x% covered > 20xAssociated Phenotype description and OMIM disease ID 
CHD71610.990.98CHARGE syndrome,214800
CHD71610.990.98Hypogonadotropic hypogonadism 5 with or without anosmia,612370
DUSP6173.310.99Hypogonadotropic hypogonadism 19 with or without anosmia,615269
FEZF1171.30.990.99Hypogonadotropic hypogonadism 22 with or without anosmia,616030
FGF17155.40.990.99Hypogonadotropic hypogonadism 20 with or without anosmia,615270
FGF8127.40.850.79Hypogonadotropic hypogonadism 6 with or without anosmia,612702
FGFR1161.50.990.97Encephalocraniocutaneous lipomatosis,613001
FGFR1161.50.990.97Hartsfield syndrome,615465
FGFR1161.50.990.97Hypogonadotropic hypogonadism 2 with or without anosmia,147950
FGFR1161.50.990.97Jackson-Weiss syndrome,123150
FGFR1161.50.990.97Osteoglophonic dysplasia,166250
FGFR1161.50.990.97Pfeiffer syndrome,101600
FGFR1161.50.990.97Trigonocephaly 1190440
FLRT3259.811Hypogonadotropic hypogonadism 21 with anosmia,615271
FSHB15011Hypogonadotropic hypogonadism 24 without anosmia,229070
GNRH1102.60.990.92?Hypogonadotropic hypogonadism 12 with or without anosmia,614841
GNRHR210.911Hypogonadotropic hypogonadism 7 without anosmia,146110
HESX178.10.960.87Growth hormone deficiency with pituitary anomalies,182230
HESX178.10.960.87Pituitary hormone deficiency, combined, 5182230
HESX178.10.960.87Septooptic dysplasia,182230
HS6ST168.90.930.84{Hypogonadotropic hypogonadism 15 with or without anosmia},614880
IL17RD144.80.990.97Hypogonadotropic hypogonadism 18 with or without anosmia,615267
KAL1106.40.890.87Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1),308700
KISS147.20.980.94?Hypogonadotropic hypogonadism 13 with or without anosmia,614842
KISS1R93.70.990.97Hypogonadotropic hypogonadism 8 with or without anosmia,614837
KISS1R93.70.990.97?Precocious puberty, central, 1176400
LEP21410.98Obesity, morbid, due to leptin deficiency,614962
LEPR125.50.930.89Obesity, morbid, due to leptin receptor deficiency,614963
LHB28.30.940.68Hypogonadotropic hypogonadism 23 with or without anosmia,228300
NR0B1130.10.990.9746XY sex reversal 2 dosage-sensitive,300018
NR0B1130.10.990.97Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism,300200
NSMF1130.960.95Hypogonadotropic hypogonadism 9 with or without anosmia,614838
PCSK1166.90.990.99Obesity with impaired prohormone processing,600955
PCSK1166.90.990.99{Obesity, susceptibility to, BMIQ12},612362
PROK2106.70.970.91Hypogonadotropic hypogonadism 4 with or without anosmia,610628
PROKR2373.611Hypogonadotropic hypogonadism 3 with or without anosmia,244200
PROP198.30.970.91Pituitary hormone deficiency, combined, 2262600
SEMA3A214.910.99{Hypogonadotropic hypogonadism 16 with or without anosmia},614897
SOX1080.40.970.93PCWH syndrome,609136
SOX1080.40.970.93Waardenburg syndrome, type 2E, with or without neurologic involvement,611584
SOX1080.40.970.93Waardenburg syndrome, type 4C,613266
SPRY41530.990.99Hypogonadotropic hypogonadism 17 with or without anosmia,615266
TAC388.50.960.88Hypogonadotropic hypogonadism 10 with or without anosmia,614839
TACR3179.210.99Hypogonadotropic hypogonadism 11 with or without anosmia,614840
WDR11148.70.970.96Hypogonadotropic hypogonadism 14 with or without anosmia,614858

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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.