Genetic Diseases

Genetic Testing for Rare Genetic Diseases

Over 7,000 rare diseases are known and most are genetic.

Genetic Diseases

What is a rare disease?

A low-prevalence disease, often presenting in childhood.

Symptoms

Diverse multisystem features.

Genetic causes

Monogenic mutations, CNVs and structural variants.

Inheritance pattern

Variable.

Important genes

Thousands of different genes.

Who should be tested?

Patients with unsolved diagnosis and multisystem features.

Recommended tests

WES, WGS, microarray.

Counseling

Result interpretation with a multidisciplinary team.

Frequently Asked Questions

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Gene Negar Ayandegan · Genetic Testing for Rare Genetic Diseases