Rare Disorders

DNA sequencing and genetic analysis in modern laboratory

TransformingDelays into Diagnoses

There are over 7,000 identified rare diseases, many of which begin in childhood—and nearly 80% have a genetic cause. Yet, the average time to diagnose a rare disorder is still 4.8 years, with some cases taking up to 20 years.

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Our Rare Disease Solutions Offer

Comprehensive genomic sequencing solutions designed to unlock genetic insights and accelerate diagnosis for rare disease patients and their families.

Exome

Whole Exome Sequencing for uncovering the genetic basis of rare diseases.

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ExomeMito

Exome + Mitochondrial Genome Sequencing for a higher diagnostic yield.

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Who Should Consider Whole Exome Sequencing (WES)?

Whole Exome Sequencing (WES) is recommended for individuals with unexplained genetic disorders, complex or atypical clinical presentations, or when prior genetic tests have been inconclusive.
It is especially valuable in diagnosing rare inherited diseases, uncovering the cause of developmental delays, intellectual disabilities, or early-onset neurological conditions, and providing insights for personalized treatment planning.
WES can help identify genetic causes in a wide range of rare disorders.

Clinical Areas

Cardiovascular

Dermatology

Dysmorphology

Ear, Nose, and Throat

Endocrinology

Hematology

Immunology

Metabolic Disorders

Nephrology

Neurology

Ophthalmology

Osteology

Pneumology

Reproductive Health