Rare inherited disorders and diseases

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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.

• >5000 rare diseases exist with new diseases being reported regularly
• 80% of rare diseases are of genetic origin
• 5-10% of people in any population might be affected by rare disease

ExomeMax: 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.

RapidExome: Offers detailed report in 14 days for comprehensive genetic analysis for genetically heterogeneous Rare Diseases.

Trio Exome Analysis: Helps to identify variants which have been inherited from parents as well as variants which are de novo.

Whole Exome: A comprehensive test that looks at all the exome sequences that are present in the human genome.

Clinical Exome: Screens all genes currently known to cause human disease.

Targeted Gene Panels: Tests a select set of genes or gene regions that are known or suspected associations with certain diseases.

Terminologies to know when reading the genetic report describing the genetic variant found after testing:

Pathogenic and likely pathogenic variants mean the genetic cause of the observed symptoms has been identified and may help determine the right treatment and management plan.

Variants of unknown significance means there was not enough evidence to classify the variant as either pathogenic or neutral. Annual variant reclassification and testing family members is recommended.

It is important to note that a negative result does not guarantee the absence of a disorder or that the disorder does not have a genetic cause. Genetic testing is an evolving field and may not detect all variants or there may not currently be enough evidence to classify all variants that lead to an inherited disease.