Skip to content
  • Argentina
  • Brazil
  • Canada
  • Chile
  • Colombia
  • Europe
  • France
  • Germany
  • India
  • Italy
  • Japan
  • Korea
  • Mexico
  • Perú
  • Russia
  • Spain
  • Taiwan
  • The Middle East
  • Turkey
  • United Kingdom
  • United States
  • Vietnam
  • Middle East
    موقعك
  • Request Information

    800 50342
    طلب معلومات 800 50342
  • عربي
  • Request Information

    800 50342
    طلب معلومات 800 50342
  • Part of brands: |
Middle EastMiddle East
  • Part of brands: |
  • We guide you
    • Fertility
    • Inherited diseases
    • Worry-free pregnancy
  • Reproductive Health
    • Specialists
      • ERA
      • EndomeTRIO
      • EMMA
      • ALICE
      • PGT-A
      • Baby Gender
      • EMBRACE
      • PGT-M
      • POC
      • WES
      • NACE
      • SAT
    • Patients
      • ERA
      • EndomeTRIO
      • EMMA
      • ALICE
      • PGT-A
      • Baby Gender
      • EMBRACE
      • PGT-M
      • POC
      • WES
      • NACE
      • SAT
  • Diagnostics
  • About Us
    • Igenomix Research
    • About Igenomix
  • Our blog
  • Clinic Portal
  • ACADEMY
Genomics Precision Diagnostic > Prenatal > Kallmann Syndrome Precision Panel

Kallmann Syndrome Precision Panel

Kallmann Syndrome (KS) is a rare genetic disorder that belongs to the spectrum of isolated hypogonadotropic hypogonadism. This decrease in gonadal function is due to a failure in differentiation or migration of neurons that embryologically arise in the olfactory mucosa and travel to the hypothalamus.
Overview
Indication
Clinical Utility
Genes & Diseases
Methodology
References

Overview

  • Kallmann Syndrome (KS) is a rare genetic disorder that belongs to the spectrum of isolated hypogonadotropic hypogonadism. This decrease in gonadal function is due to a failure in differentiation or migration of neurons that embryologically arise in the olfactory mucosa and travel to the hypothalamus. Thus, a particular feature of Kallman Syndrome is the presence of either anosmia (lack of sense of smell) or severe hyposmia. Some non-reproductive, non-olfactory symptoms can also be present, depending on the genetic form of disease which include cranial anomalies, missing teeth, optic problems and/or congenital heart disease. Inability to attain puberty or failure to fully complete it is one of the main forms of presentation and an early interventional replacement therapy could prevent further complications derived from a delay in treatment. It is inherited typically in an autosomal dominant fashion.  
  • The Igenomix Kallmann Syndrome Precision Panel can be used to make a directed and accurate diagnosis as well as a differential diagnosis of hypogonadotropic hypogonadism ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.  

Indication

  • The Igenomix Kallmann Syndrome Precision Panel is indicated for those patients with a clinical diagnosis or suspicion with or without the following manifestations: 
    • Amenorrhea 
    • Dyspareunia  
    • Infertility 
    • Decreased muscle strength and diminished aggressiveness and drive in men 
    • Osteoporosis  
    • Anosmia or hyposmia (decreased or absent sense of smell) 
    • Fatigue 
    • Difficulty breathing 
    • Palpitations  
    • Syncope 
    • Color blindness 
    • Epilepsy
    • Deafness 
    • Paraplegia  
    • Skeletal abnormalities 

Clinical Utility

The clinical utility of this panel is: 

  • The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.  
  • Early initiation of treatment with a multidisciplinary team gonadal steroid replacement therapy, assisted reproduction technology (ARTs), psychological counselling and surveillance and prevention of complications such as osteoporosis, adrenocortical insufficiency and neurologic disorders.  
  • Early planification of surgical care for congenital heart disease and cleft lip or palate.
  • Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance. 

Genes & Diseases

Methodology

References

See scientific referrals

Stamou, M. I., & Georgopoulos, N. A. (2018). Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism. Metabolism: clinical and experimental, 86, 124–134. https://doi.org/10.1016/j.metabol.2017.10.012 

Meczekalski, B., Podfigurna-Stopa, A., Smolarczyk, R., Katulski, K., & Genazzani, A. R. (2013). Kallmann syndrome in women: from genes to diagnosis and treatment. Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology, 29(4), 296–300. https://doi.org/10.3109/09513590.2012.752459 

Bonomi, M., Libri, D., Guizzardi, F., Guarducci, E., Maiolo, E., & Pignatti, E. et al. (2011). New understandings of the genetic basis of isolated idiopathic central hypogonadism. Asian Journal Of Andrology, 14(1), 49-56. doi: 10.1038/aja.2011.68 

Dodé, C., Teixeira, L., Levilliers, J., Fouveaut, C., Bouchard, P., Kottler, M. L., Lespinasse, J., Lienhardt-Roussie, A., Mathieu, M., Moerman, A., Morgan, G., Murat, A., Toublanc, J. E., Wolczynski, S., Delpech, M., Petit, C., Young, J., & Hardelin, J. P. (2006). Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. PLoS genetics, 2(10), e175. https://doi.org/10.1371/journal.pgen.0020175 

Pingault, V., Bodereau, V., Baral, V., Marcos, S., Watanabe, Y., & Chaoui, A. et al. (2013). Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness. The American Journal Of Human Genetics, 92(5), 707-724. doi: 10.1016/j.ajhg.2013.03.024 

Sonne, J., & Lopez-Ojeda, W. (2020). Kallmann Syndrome. In StatPearls. StatPearls Publishing. 

descargar

Detail description

Download

 





IGENOMIX_PartOfVitrolifeGroup_black

WE GUIDE YOU

Fertility

Inherited diseases prevention

Healthy pregnancy



CAP Accredited laboratory delivering optimal patient care & evolving with innovation in laboratory medicine.

OUR SERVICES

Genetic solutions

For Patients

How to send a sample?

Directory of Test Service

Igenomix Dubai is accredited by EIAC (Emirates international accreditation center) to the ISO 15189 standard for Whole exome sequencing (See scope of accreditation in certificate)

ABOUT US

About Igenomix

Contact

Press and news

Quality

Work with us

FOLLOW IGENOMIX

Blog: Path to fertility

  800 50342
  Write us
  • Argentina
  • Brazil
  • Canada
  • Chile
  • Colombia
  • Europe
  • France
  • Germany
  • India
  • Italy
  • Japan
  • Korea
  • Mexico
  • Perú
  • Russia
  • Spain
  • Taiwan
  • The Middle East
  • Turkey
  • United Kingdom
  • United States
  • Vietnam
Language

[2019] © Igenomix Privacy policy Quality policy Legal note Cookies policy

Download ERA eBook

Download EMMA eBook

Download ALICE eBook

Download NACE eBook

Download EndomeTRIO eBook

Download PGT-A eBook

Download POC eBook

Download SAT eBook

Download Oncodona eBook

Download Baby Gender eBook

Download WES eBook

Download PGT-M Brochure eBook

Download PGT-M Full Disease List eBook

Download WES Technical Sheet

Download WES eBook

Download WES Instructions eBook

Download SAT Clinical Sheets eBook

Download SAT Instructions eBook

Download Oncodona Brochure eBook

Download Oncodona Instructions eBook

Download PGT-A Technical Sheets eBook

Download PGT-A Brochure eBook

Download PGT-A Mitoscore eBook

Download PGT-A Instructions eBook

Download PGT-M Brochure eBook

Download PGT-M Technical Sheets eBook

Download PGT-M Instructions eBook

Download Baby Gender Step Guide eBook

Download Baby Gender Brochure eBook

Download ERA Technical Sheets eBook

Download ERA Brochure eBook

Download ERA Instructions eBook

Download ERA Instructions eBook

Download EMBRACE Clinical Sheets eBook

Download EMBRACE Brochure eBook

Download EMMA Technical Sheets eBook

Download EMMA Brochure eBook

Download EMMA Instructions eBook

Download ALICE Technical Brochure eBook

Download ALICE FAQ eBook

Download ALICE Infographic Brochure eBook

Download ALICE Brochure eBook

Download ALICE Instructions eBook

Download EndomeTRIO Clinical Sheets eBook

Download EndomeTRIO Brochure eBook

Download EndomeTRIO Infography eBook

Download EndomeTRIO Manual eBook

Download POC Technical Sheets eBook

Download POC Brochure eBook

Download POC Instructions eBook

[gravityform id="59" title="false" description="false" ajax="true"]

Download NACE Clinical Sheets eBook

Download NACE Brochure eBook

Download NACE Instructions eBook

Download My IVF Journey eBook

Download Assisted Reproduction Guide eBook

How can you improve your fertility eBook

  • We guide you
    • Fertility
    • Inherited diseases
    • Worry-free pregnancy
  • Reproductive Health
    • Specialists
      • ERA
      • EndomeTRIO
      • EMMA
      • ALICE
      • PGT-A
      • Baby Gender
      • EMBRACE
      • PGT-M
      • POC
      • WES
      • NACE
      • SAT
    • Patients
      • ERA
      • EndomeTRIO
      • EMMA
      • ALICE
      • PGT-A
      • Baby Gender
      • EMBRACE
      • PGT-M
      • POC
      • WES
      • NACE
      • SAT
  • Diagnostics
  • About Us
    • Igenomix Research
    • About Igenomix
  • Our blog
  • Clinic Portal
  • ACADEMY
  • Middle East
    موقعك
  • Languages
    • You need Polylang or WPML plugin for this to work. You can remove it from Theme Options.
  • Clinics' area
We use our own and third-party cookies to improve our services and to show you advertisements related to your preferences by analyzing your browsing habits. If you continue browsing, it is considered that you accept its use.Cookie settingsAccept
Privacy & Cookies Policy

نظرة عامة على الخصوصية

يستخدم هذا الموقع ملفات تعريف الارتباط لتحسين تجربتك أثناء التنقل عبر الموقع. من بين ملفات تعريف الارتباط هذه ، يتم تخزين ملفات تعريف الارتباط المصنفة حسب الضرورة على متصفحك لأنها ضرورية لعمل الوظائف الأساسية للموقع. نستخدم أيضًا ملفات تعريف الارتباط الخاصة بطرف ثالث والتي تساعدنا في تحليل وفهم كيفية استخدامك لهذا الموقع. سيتم تخزين ملفات تعريف الارتباط هذه في متصفحك فقط بموافقتك. لديك أيضًا خيار إلغاء الاشتراك في ملفات تعريف الارتباط هذه. لكن إلغاء الاشتراك في بعض ملفات تعريف الارتباط هذه قد يكون له تأثير على تجربة التصفح لديك.
Necessary
Always Enabled
أي ملفات تعريف ارتباط قد لا تكون ضرورية بشكل خاص لكي يعمل موقع الويب ويتم استخدامها خصيصًا لجمع بيانات المستخدم الشخصية عبر التحليلات والإعلانات والمحتويات الأخرى المضمنة تسمى ملفات تعريف ارتباط غير ضرورية. من الضروري الحصول على موافقة المستخدم قبل تشغيل ملفات تعريف الارتباط هذه على موقع الويب الخاص بك.
Non-necessary
أي ملفات تعريف ارتباط قد لا تكون ضرورية بشكل خاص لكي يعمل موقع الويب ويتم استخدامها خصيصًا لجمع بيانات المستخدم الشخصية عبر التحليلات والإعلانات والمحتويات الأخرى المضمنة تسمى ملفات تعريف ارتباط غير ضرورية. من الضروري الحصول على موافقة المستخدم قبل تشغيل ملفات تعريف الارتباط هذه على موقع الويب الخاص بك.
SAVE & ACCEPT