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Interesting Fact
  • There are more than 6,000 known single-gene disorders, which occur in about 1 out of every 200 births in US.
  • Genetic disorders are one of the leading cause of infant mortality in the US.
  • Rare diseases affect 1 in 10 Americans, 30 million people in the United States, and 350 million people globally.
  • Over 7,000 distinct rare diseases exist and approximately 80 percent are caused by faulty genes.
  • 20-30% of all infant deaths are due to genetic disorders

Genetic Disorders


Genetic disorder is the result of an abnormality in an individual’s DNA. Abnormalities can take place in the form of a single-base mutation in a gene or it may involve the addition or deletion of part of chromosomes.The mutations may get passed onto the successive generations. Genetic disorders might also occur by the combination of environmental factors and gene mutations.

Individuals may inherit particular mutated disease-causing gene such as the sickle-cell disease, Tay-Sachs disease ,cystic fibrosis and so on. When we are unlocking the secrets of the complete set of human genes, it is being discovered that almost all physiological disorders have connection with a genetic component. Some diseases can be inherited from the parents that are caused by mutations and other diseases might occur during a person’s lifetime due to mutation in gene or group of genes. These diseases may occur randomly because of environmental exposure and those may include cancer and some forms of neurofibromatosis.

Our Technology

Genetic Testing May Save Lives

Genetic testing will help an individual in taking a more proactive part in their health. Our diagnostic-testing are available for conditions such as heart-problems, inherited cancer, cystic fibrosis, infertility and breast cancer. These tests will help in managing risk factors in case any mutations in genes are found. If mutations are not found, then also an individual will be able to know of any complication that might appear in future.

Purpose of Genetic tests
  • To diagnose a disease and find the causative mutation
  • To predict if the disease will get worse or not (prognosis)
  • To enable doctors to manage the disease more effectively and use the best treatments available
  • To search for the same genetic change in other family members and give genetic advice to the family
Benefits of genetic tests
  • The genetic tests identify if there are mutations or not and helps in bringing relief about inherited diseases to uncertain people.
  • Will help doctors in making specific recommendations for treatment or monitoring.
  • Provide guidance about lifestyle modifications such as diet and exercise regimes to lower the chances of diseases.

How it works steps

1 step
Register and Order your test

Choose the test you desire and order. Our genetic counsellor helps you fill up a detailed.

2 step
Send your sample and get the result

Receive a simple saliva sample collection kit and send us the sample from convenience.

3 step
Prepare for healthy tomorrow

In case of any positive report consult physicians or our sample from convenience.

4 step
We keep supporting you

You are also encouraged to store the enormous genetic data for re-interpretations later with increased knowledgebase and easy retrieval to save the cost of re-sequencing.

Defining a new category of genetic tests

Unlike carrier screening tests, which look at the health risks for a baby, the Fertilome test reveals genetic risk factors related to reproductive conditions that may affect a woman's ability to conceive.

When a genetic testing should be considered

The genetic disorders are tested by way of genetic testing. We offer genetic test to individuals who have a family history of inherited diseases or who have a chance of inheriting diseases. When the genetic testing is done timely then you can take up appropriate measures after counseling with our genetic counsellor. You may consider this test in the following cases:

  • Family history of rare and inherited diseases.
  • Parents or siblings who have developed such diseases that might affect older individuals.
  • When considering the idea of conceiving and you and your partner have a family history of inherited diseases.

The ultimate aim of genetic testing involves the use of the result to treat, cure and prevent it (if possible). Just after birth, newborn screening might be used so that genetic disorders can be treated at an early stage.

Genetic counseling service at PatientMD:

At PatientMD, we provide you with genetic counseling services both before testing as well as after testing.

Before conducting genetic test:

  • The learned counselor may evaluate medical histories of you and your family to decide the test most suitable for you or also to judge if you need a genetic test
  • Before testing genetic counseling is required so that you are able to make an informed decision about getting tested.
  • We will ensure that you are aware of all ramifications before you decide on getting tested.
  • The services include the review of your medical history, review of your family history as well as other risk factors.
  • You will also be provided with the option and limitation of surveillance and prevention.
  • Confidentiality issues will also be discussed along with the method of receiving the reports.

After conducting the genetic test

  • Our genetic counsellor will explain your reports to you in the simplest manner possible and then help you to tackle the situation based on your genetic report.
  • In case some mutations are found, then our genetic counsellor will discuss about inheritance and which relatives should be tested and what should be the medical follow-up.
  • When no mutations are found then our genetic counsellor will discuss with you about any suspicion about genetic syndrome.
How the results of genetic test might help you?
The result obtained from your genetic test might help you in the following ways:
  • Diagnosing a disease
  • Finding out the genes responsible for the diagnosed disease.
  • Ascertaining how much severe is the disease
  • Obtaining guidance with respect to medicine and other treatments
  • Finding out gene changes that increases the chances of developing diseases.
  • Finding out the gene changes that might transfer to children.
How your results may prove useful for your family?

The results might prove useful to your family in the following ways:

  • Genetic mutations are often passed down through families.
  • Protect your family from being affected by the disease
  • Take help from our expert counselors and know the risks your family might acquire
  • Certain lifestyle modifications can help you and your family live a disease-free happy life

Ask our experts whatever is on your mind! Our broad network consists of organizations and experts with knowledge on many topics in genetics.

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