Birth of a Healthy Baby Free from Huntington's Chorea

Birth of a Healthy Baby Free from Huntington's Chorea

A milestone success first time in India and Second in world using the latest haplotyping technology.

Huntington's chorea is a rare inherited nurodegenerative disease affecting the bases of DNA in the HTT gene of humans. It is inherited as an autosomal dominant form which has a 50% chance of being passed on to children if one parent carries a copy of the defective HD gene.HTT disease affects adults and it's prevalence in India between three to seven affected among 1 lakh people. The effect of the disease is such that the affected person usually dies within 15-20 years. Lack of awareness and no testing strategies increases the social burden. Prenatal diagnosis of HT disease becomes challenging when fetus is found to be affected and parents are left with only option of either termination or deliver a child with the struggling disease. At Argenomics, a renowned PGT Lab in Kerala and pioneers in dealing with monogene defects with greater success, we have developed first time in India haplotyping technology with our expertise to detect the HTT gene defect in embryo stage itself. After the in vitro fertilisation technique embryos obtained under toes PGTM (preimplantation genetic testing) to check the detective gene status. The present case was referred to us where mother had the HTT gene defect inherited from her father. The physical condition was not so favouring for her hence family decided that her own mother would be her surrogate. So embryos obtained from the patient herself (10 tested) were tested for the defective gene (3 embryos were found normal) and one single normal embryo in the first attempt gave rise to a healthy baby birth at our hospital. This case was challenging as developing a PCT m assay for rare disease was challenging. In conclusion treatment of such genetic diseases becomes challenging and this increases social burden. Hence employing high end technologies and expertise can help prevent genetic conditions to reoccur in family and make a healthy gene pool future generations and country.

Genetic Counseling: Why it's necessary?

Genetic Counseling: Why it's necessary?

The need for Genetic Counselling in IVF!

This illustration shows a couple trying to plan a family but one of them happens to be carrier of a Genetic Disorder. What is the right way to plan your IVF and what happens if you don't avail a genetic counseling in such a case is also illustrated. If you've a history of genetic diseases in your family, it is important that you share it with your Consultant, so that the Geneticist can get in touch with you to find disease-free embryos inorder to get a healthy baby.

For more details: Call 0480-2800200 and ask a connection to Genetics.

ജനിക്കാനിരിക്കുന്ന പിഞ്ചോമനക്കു ജനിതക വൈകല്യങ്ങൾ ഉണ്ടാകുമോ? ഇപ്പോൾ അമ്മയുടെ രക്തത്തിൽ നിന്ന് തന്നെ 100% കണ്ടുപിടിക്കാം NIPT Test.

ഏകദേശം 10 -ആഴ്ച ഗർഭാവസ്ഥയിൽ അമ്മയുടെ 10 ml രക്തം ശേഖരിക്കുകയും, അതിൽ നിന്ന് ക്രാഫ്റ്റ് ജനറ്റിക്‌സ് ലാബിൽ കുഞ്ഞിന്റെ DNA-യുകൾ ടെസ്റ്റ് ചെയ്യുകയും ചെയുന്നു. സാധാരണ രീതിയിൽ ഗർഭസ്ഥശിശുവിന് ജനിതകവൈകല്യമുണ്ടോ എന്ന് അറിയുവാൻ ചെയ്യപ്പെടുന്ന biochemical ടെസ്റ്റുകൾ (double, triple, quadruple tests) പോലെ അല്ല NIPT. ക്രാഫ്റ്റ് ജനറ്റിക്‌സ് ലാബിൽ 23-pair chromosome-മുകളും ടെസ്റ്റ് ചെയ്യും. അതിനാൽ കുഞ്ഞിന് ജനിതക വൈകല്യമുണ്ടോ എന്ന് അമ്മയുടെ രക്തത്തിൽനിന്നുതന്നെ 100% കണ്ടുപിടിക്കാൻ സാധിക്കും. നിങ്ങളുടെ കുടുംബത്തിൽ ജനിതകവൈകല്യമുള്ള ആരെങ്കിലും ഉണ്ടെങ്കിലോ, ultrasound -സ്കാനിൽനിന്നും കുഞ്ഞിന് എന്തെങ്കിലും വൈകല്യങ്ങൾ നിങ്ങളുടെ Gynecologist കണ്ടുപിടിക്കുകയോ ചെയ്താൽ ഈ ടെസ്റ്റ് നിർബന്ധമായും ചെയ്യണം.

genetics test center in kerala.

One of the major reasons for the recurring pregnancy losses and IVF failures is a disorder occurring in the endometrium which mainly concerns abnormal gene expressions. Now using the procedure Endometrial Receptor Gene Assay (ERGA), it is possible to detect and correct this anomaly. Argenomics house...

Medical Genetics.
The Need of the Hour.

Medical Sciences & Technology go hand-in-hand in this new age. The number of diseases found to have a genetic basis is increasing. So, Medical Genetics plays a vital role in determining the risks of developing certain diseases as well as screening and preventive treatment. This become...

genetics center in thrissur.

This is the prenatal genetic testing of foetal chromosomal aneuploidies from Mother’s Blood. We have the credit of being the first centre in the...

NGS Based DNA Testing made affordable at Argenomics

NGS Based DNA Testing made affordable at Argenomics


Genetic Diagnosis (PGD)

PGD for Chromosomal Translocations: Preimplantation Genetic Diagnosis (PGD) – done on embryos created after IVF wherein the genetic diagnosis...

Pre-Implantation Genetic Screening (PGS)

24 chromosome PGS Pre-Implantation Genetic Screening (PGS) involves a process of screening of embryos in the course of In Vitro Fertilization (IVF). ...

Page Visit:

  • cytogenetics

    Cytogenetics refers to the study of chromosome content in a cell. Argenomics has a fully equipped Cytogenetics lab with automated Karyotyping and FISH software. A complete Karyotype including structural chromosomal abnormalities and micro-deletions can be obtained using this facility. FISH is only performed on selected chromosomes. Cytogenetic studies can be done on a variety of samples like Peripheral blood, Amniotic fluid, CVS, and products of conception.

  • Hereditary Disease

    Targeted Mutation Screening  is a diagnostic tool completed through blood test that identifies the mutated gene or genes causing a genetic disease in your family. The identification of a gene mutations allows for further steps to be taken to prevent the passing on of the condition to future generations and may aid in the improvement of treatment of an affected individual. In most cases, after identifying the cause of genetic disease the couples can go with a Pre-Implantation Genetic Diagnosis (PGD) for Single Gene Disorders, a genetic test...


    Preconception genetic testing Pre-Implantation Genetic Screening (PGS) involves a process of screening of embryos in the course of In Vitro Fertilization (IVF). This helps to identify abnormalities in the chromosomes occurring due to aneuploidy. The main reason for recurrent IVF failures and in turn pregnancy losses is the higher risk of chromosomal errors that happ...