Rare Inherited Disorders

Overview

 

Rare inherited diseases often present with complex symptoms that can be difficult to diagnose and manage. At MedGenome, we offer advanced solutions that support clinicians in identifying and understanding these conditions at a molecular level. Precision in diagnosis, including the recognition of disease subtypes, plays a vital role in guiding treatment decisions and improving patient outcomes. With a focus on the unique genetic makeup of the Indian population, our approach brings clarity to rare disorders and enables more informed, confident care.

 

 

Comprehensive Range of
Rare Inherited Disorders Testing Solutions

ExomeMAX - Whole Exome Sequencing

Advanced Exome Sequencing for Better Genetic Clarity

Whole Exome Sequencing

Accurate Diagnosis for Rare Genetic Disorders

Trio Exome Sequencing

Advanced Genetic Testing for Inherited Diseases

Rapid Exome Sequencing

Timely Solution for Complex Genetic Disorders

Clinical Exome Sequencing

Enhanced Diagnostic Accuracy for Genetic Disorders

KaryoTrack Chromosomal Microarray (CMA)

Detecting Chromosomal Abnormalities with Precision

BabySecure: Newborn Screening

Comprehensive Testing Solution for Inherited Disorders

Neuro Genetic Test

Comprehensive Genetic Testing for Neurological Disorders

Nephro Genetic Test

Comprehensive Genetic Tests for Nephrological Disorders

Endocrine Genetic Test

Advanced Genetic Testing for Hormonal Imbalances

Ophthalmic Genetic Test

Identifying Genetic Causes of Hereditary Eye Disorders

Cardio Genetics

Comprehensive Genetic Testing for Cardiovascular Diseases

Our Expertise

We are South-East Asia’s largest CAP-accredited genetic testing laboratory, operating in India with the most extensive menu of over 1,300 advanced genetic tests. Our offerings help detect and diagnose complex disorders in disease areas including rare inherited diseases, reproductive health, oncology, infectious diseases and preventive wellness.

  • Largest CAP-Accredited and NABL-Certified Genomics Sequencing Lab in South Asia

    Largest CAP-Accredited and NABL-Certified Genomics Sequencing Lab in South Asia

  • 5,00,000+ Exomes and Genomes Sequenced

    5,00,000+ Exomes and Genomes Sequenced

  • Trusted by the Scientific Community, Over 1,000+ Research Citations and Counting

    Trusted by the Scientific Community, Over 1,000+ Research Citations and Counting

  • 1300+ Genetic Tests Across Various Disease Categories

    1300+ Genetic Tests Across Various Disease Categories

  • 1300+ Employees, 160+ Scientists, 150+ Genome Analysts & 70+ Bioinformatics Engineers

    1300+ Employees, 160+ Scientists, 150+ Genome Analysts & 70+ Bioinformatics Engineers

  • Delivering Excellence in 600+ Locations Pan India and Across 40 Countries.

    Delivering Excellence in 600+ Locations Pan India and Across 40 Countries.

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