Rare diseases diagnosis
Rare diseases diagnosis

put an end to the diagnostic Odyssey

Provide your patients with accurate diagnosis about their Rare Disease condition

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Rare disease case study

Baby Shreya (named changed to protect privacy), born to a consanguineous couple was diagnosed with global developmental delay and epilepsy. Her preliminary investigations suggested a possible mitochondrial disorder. Till the advent of Next Generation Sequencing confirming the diagnosis of a mitochondrial disorder was a clinician's nightmare!

With NGS the doctor was able to get a direct genetic diagnosis done. NGS testing revealed that Shreya was suffering from a Rare Disease called Biotin-Thiamine Responsive Basal Ganglia Disease. This is a treatable disorder as compared to other mitochondrial disorders thus saving Baby Shreya and her family years of emotional and financial hardships.

What is a rare disease and how prevalent is it in India

A rare disease is a health condition of low prevalence that affects a small number of people compared with other prevalent diseases in the general population.
Rare disease details

What is the rare disease diagnostic odyssey

Diagnosis of rare disease without NGS
Rare diseases diagnosis
Diagnosis of rare disease with NGS
Rare diseases diagnosis

Who should get tested for rare diseases?

Genetic disorders can present at birth or at a later life. They can affect a single organ or multiple organ systems. Usually, your referring clinician considers genetic testing based on the following:

  • 1Somebody with a typical presentation of unexplained illness
  • 2Multiple affected members within the same family
  • 3Early age of onset for disease: newborn with seizures
  • 4Consanguineous marriage couples

Can genetic testing provide a definite diagnosis of rare diseases?

A definite diagnosis provides answers to what is it? how did this happen? What next?

Lack of a diagnosis marks the beginning of a pillar to post journey for a family.

The advent of ‘Next Generation Sequencing’ technology has made the detection of these diseases possible at a much quicker rate. An accurate diagnosis which earlier took years is now possible in 4-8 weeks via Next Generation Sequencing. Specific NGS techniques such as Whole Exome Sequencing, Clinical Exome and Whole Genome Sequencing (WGS), has resulted in an ever-increasing number of RD genes being diagnosed at a much earlier stage.

What are the types of genetic test for rare diseases diagnosis?

Trio Exome Analysis
Whole Exome
Clinical Exome
Targeted Gene Panel
A combined analysis of affected and unaffected members (usually parents and patient). Helps to identify variants which have been inherited from parents as well as variants which are de novo. Whole Exome is a comprehensive test that looks at all the exome sequences that are present in the human genome. Clinical Exome is a test that screens all genes currently known to cause human disease. About 6000 genes are reported to be clinically relevant. They contain a select set of genes or gene regions that are known or suspected associations with certain diseases.

Our journey in the rare disease space

At MedGenome we operate the highest throughput genetic testing lab in India. We have:

  • Sequenced
  • Recommended by
  • Trusted by
  • Offers
  • Present in

Genome sequencing process at MedGenome

Rare diseases diagnosis

Results obtained in 20 to 28 days depending on the test

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