Single Gene Defects Test in Hyderabad

Dr. Chandana Lakkireddi

Get the Best IVF treatment in Hyderabad from an Expert IVF Specialist at Dr. Chandana Lakkireddi IVF Clinic, the world-leading IVF clinic in Hyderabad..

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KALLURIS, Plot No. 6-3-251/6A, Beside GVK One, Rd Number 1, Banjara Hills, Hyderabad, Telangana 500082

+91 80084 62222

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Single Gene Defects Test in Hyderabad

Chromosomes are small structures, and they contain more than twenty thousand genes that help in the development and maintenance and health. The human body needs 46 chromosomes and 23 chromosomes from the sperm and 23 chromosomes from the egg. The chromosomes and genes play an important role in the conception and also to achieve a healthy pregnancy. Any mutation or abnormalities or deletion in chromosomes can cause infertility, failed pregnancy, and increase the risk of a child getting a genetic disease.


Single gene defects involve mutation or some changes in the DNA that codes for a particular gene. A single gene defect can cause fertility problems and even health conditions.


Several genetic conditions or abnormalities like single gene defects and chromosomal abnormalities can affect fertility. A single gene defect is held responsible for causing disease as they cause changes in certain genes. A mutation in the single gene can cause a single gene disorder, and this defect or disorder passed from parents to their progeny. If any of the parents or both are a carrier or suffer from a single gene disorder, they risk passing the disease to their children.

Single Gene Defects Test in Hyderabad

In such a case, in-vitro fertilization can help, and a preimplantation genetic diagnosis test can be performed to check whether the embryo is healthy or affected with a genetic disorder. Genetic testing is also recommended in males with a lack of sperm (azoospermia) or low sperm counts.


Diseases caused by gene defects or chromosomal disorders

Autosomal recessive and dominant, X-linked dominant and dominant and Y-linked are the inheritance pattern of single-gene disorders.

Huntington's disease and Marfan syndrome are autosomal dominant disorders.
Thalassemia and sickle cell disease are autosomal recessive disorders.
Aicardi syndrome is an X-linked dominant disease.
Any mutation in the Y chromosome causes Y linked disorders and can be passed from carrier or affected male to their male child, not to females as they lack a Y chromosome.
Hemophilia is an X-linked recessive disorder.


Test performed to detect single gene defects

DNA sequencing technology or Next-generation sequencing (NGS).
Polymerase Chain Reaction for mutation analysis.
Molecular techniques help determine the affected embryo with abnormalities in chromosomes or mutation in the genes. This determination of the highest quality chromosomally normal embryo with IVF gives the best chance of delivering a healthy baby.

Suffering from any genetic condition or disease and afraid of passing it to your children. Consult with an expert IVF specialist Dr. Chandana Lakkireddi at Nova Fertility IVF Centre, Hyderabad to achieve a successful and healthy pregnancy.

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