There are over 7000 rare diseases out of which 80% are caused by faulty genes.

Take a look at six genes that genetic tests Now, mail-order kits allow us a peek at our genetic destinies
How inherited diseases may affect our health?
  • There are more than 6,000 known single-gene disorders, which occur in about 1 out of every 200 births in the 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
Benefits of genetic tests
  • The genetic tests identify if there are mutations or not and help 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.
Our Tests
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Female Infertility
In case of females, disorders related to ovaries, recurrent miscarriages, early menopause and several other fertility related issues may have a genetic origin. Awareness may enable one to follow effective treatments and important family related decisions.
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Male Infertility
Male infertility accounts for 15 % of all the infertility cases. Male infertility can be a multifactorial disorder. Based on a case study, the reason for 30% of male infertility is not known and the reasons may be buried in genetic defects.
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Hereditary Cancer
Several environmental issues are responsible for mutations in genes resulting in cancer but at least 8-10% of all cancer cases are hereditary. These traits become more powerful and may strike earlier in life in successive generations.
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Cystic Fibrosis
Cystic fibrosis (CF) is a genetic disorder that affects mostly the lungs. Other organs like pancreas, liver, kidneys, and intestine are also found to be affected in some cases.
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Breast Cancer
Breast cancer is the most common form of cancer worldwide with nearly 522000 deaths and 1.7 million new cases diagnosed in 2012. Routine checkup for susceptible individuals and early diagnosis can dramatically improve the time required for complete cure.
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Cardiac Disease
In US, cardiac disease continues to be a leading cause of death in spite of increased awareness about detrimental lifestyle and food habits. This is because genetic basis of cardiac disease and cholesterol instability is often an issue and is the leading cause of death by cardiac arrest in young adults.
Meet our genetic counselor
A genetic counselor:
  • will discuss with you about complex medical and genetic information in a way you can understand.
  • will create awareness about genetics and how it affects the health.
  • will help the patients in taking informed decisions about ordering a particular test and guidance about preventive plans if a risk is identified.
Our collaborations
Personalized Medicine Institute(PMI Labs)

Personalized medicine Institute is an institute focussed on providing personalized treatment to its patients based on their needs. It involves in implementation of all the diagnostic and theranostic strategies to tailor a treatment plan which would best suit the patient.

PMI lab is the only diagnostic laboratory which has a complete genetic and human cell structure laboratory facility. Their vision is to ensure the best therapeutic outcome at the lowest toxicity by identifying genetic signatures of patients. They strive to personalize therapy for every clinal need at the most affordable cost to all the patients.
Advisor
Prashanth Suravajhala | linkedin icon
Systems Biology, Research Scientist
He obtained his PhD from Aalborg University, Denmark and gained several years of postdoctoral experience.
His current research focus is on developing resources targeted genomic regions of interest, viz. known unknowns, non-coding RNAs linked to diseased genes and proteins.
Scientist
Partha Sarathi Das | linkedin icon
Genomics Division at PatientMD, Scientist
After joining a course of Microbiology, Partha Sarathi realized that its the syllabi of the school that separates science as physics, chemistry , mathematics, biology and so, actually mingle to a single entity of science and philosophy embodied together. That made him interested in cross-disciplinary studies.
Frequently asked questions
What is genetic testing?
This is a specialized test that tries to identify changes in chromosome, genes or proteins in an individual. About 20000 genes are there, each of which may have a few hundreds two million bases. Genetic tests try to identify changes in copy number of genes, or individual changes in each of the DNA bases in a target region to understand if those changes will cause any disease.
The term SNP stands for Single Nucleotide Polymorphism.Each of the SNPs represent a change in a nucleotide or DNA base. Occurrence of SNP is normal, occurring once in every 300 nucleotide bases, but all such changes do not lead to a disease condition. It is important to assess the effect of SNP in a targeted gene to predict the possibility of a disease.
Nucleotide sequencing technology aims at deciphering the sequence of nucleotides in a given zone of DNA or RNA strand. Next-generation sequencing (NGS), also known as high-throughput sequencing is a massively parallel or deep sequencing method which has revolutionized genomic research in these days. This is a rapid method which aims at deciphering small base changes (substitutions), insertions and deletions of DNA. NGS can be used to investigate , not only few targeted genomic regions, but the entire genome ( whole genome sequencing) or only the coding regions or expressed regions of genome ( whole exome sequencing).It took nearly 3 billion USD to create the first draft of human genome. These days NGS facilities are aiming at sequencing whole genome of an individual at 1000 USD range.
Molecular diagnostic testing in an asymptomatic individual is becoming increasingly sophisticated in these era of advanced sequencing and data analysis technologies. As the genomic landscape of an individual can be accessed at a high resolution and accuracy, it now possible to assess the minute variations in genome of a person and compare the changes with the standard reference of human genomes. Every individual’s DNA sequence is unique, but the uniqueness often may contain some changes that may relate to specific disorders. These changes may be passed on the next generations too.
We may inherit more than 4000 diseases. Several of them are rare but may be fatal in nature. Some may not be fatal but may have severe consequences like infertility. The genetic disorders may include various kinds of cancer, heart diseases ( major cause of premature cardiac death), cystic fibrosis, Huntington’s Disease and many more.
We may inherit more than 4000 diseases. Several of them are rare but may be fatal in nature. Some may not be fatal but may have severe consequences like infertility. The genetic disorders may include various kinds of cancer, heart diseases ( major cause of premature cardiac death), cystic fibrosis, Huntington’s Disease and many more.
  • 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
  • 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.
  • create awareness about inherited disease running in the family.
Genetic testing and results:
  • May lead to a range of mixed emotions like fear, anxiety and guilt while waiting for the result.
  • In many cases, complete prevention may not be possible.
  • The results are not conclusive thereby failing to identify any genetic modification.
  • The test just identifies the chance of an inherited risk while overlooking the impact of environmental issues.
  • Test results may reveal some family secrets involving paternity and adoption.
PatientMD understands your requirement for privacy and deals with the data collection, handling and storage through best practice regimes like:
  • Only the relevant information’s are collected.
  • Information is stored with high level of security.
  • Option for storing genetic data after report generation with your consent to provide facility of further testing is available.
Your health-related information remains protected with our voluntary compliance with Health Insurance Portability and Accountability Act (HIPAA),1996 of USA to maintain high standards of security. Your data remains stored and analyzed in high secure servers in US and it is compliant with required legal provisions.
If you find that a genetic disorder runs in your family or suspect so, a genetic test may clear you of the doubts and either bring relief to your anxiety or help you adopt required screening programs or preventive steps. Talk to our expert genetic counselors to assess if you really need a genetic test and then take an informed decision.
There may be more than 4000 inherited disorders. Several of them are fatal but rare. Often the physician or genetic counselor may suggest testing for variances in a gene or set of genes that are not part of the gene panels listed in our products. This may mean looking for responsible genes for any other disease or additional genes to be incorporated for a specific panel. All parts of human genome is easy to capture and accuracy of sequencing varies between genes. We may consider searching for variations for these specially ordered genes and also look at its feasibility. Variances found in poorly annotated genes may not be reported with clinical significance. This is custom panel, a personalized order for sequencing particular regions not covered in the mentioned genetic tests.
You may learn more about the genetic testing service of PatientMD here. These external sources may serve as excellent points to Strat learning about genetic testing:
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