Rare Diseases diagnosis

Rare Diseases ARE REAL

Genetic testing can help in early detection of Rare Disease conditions.

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What is Rare Disease and what is the prevalence 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

How does NGS help in accurate and early diagnosis of Rare Diseases?

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, Trio Exome, Clinical Exome and Whole Genome Sequencing (WGS), and tests like ExomeMax, RapidExome, Targeted Gene Panels have benefited in empowering the clinicians for better diagnosis and better patient management at an early stage.

What are the type of genetic tests for Rare Disease diagnosis?

ExomeMax RapidExome Trio Exome Analysis Whole Exome Clinical Exome Targeted Gene Panels
Maximum Diagnostic Yield. It covers ~99% of gene including alternate gene transcript, non coding pathogenic variants, 100% mitochondrial genome. It also has specialized probes for superior detection Of SNVs and CNVs. Offers detailed report in 10 days for comprehensive genetic analysis for genetically heterogeneous Rare Diseases. Helps to identify variants which have been inherited from parents as well as variants which are de novo. A comprehensive test that looks at all the exome sequences that are present in the human genome. Screens all genes currently known to cause human disease. Tests 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 throughout genetic testing lab in India. We have:

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

Genome sequencing process at MedGenome

Rare Diseases diagnosis

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