Genetic Diseases

Genetic Testing for Developmental Delay

Developmental delay may indicate a diagnosable genetic disease.

Genetic Diseases

What is developmental delay?

Failure to reach developmental milestones at the expected age.

Symptoms

Delays in sitting, walking, speech and cognitive skills.

Genetic causes

Hundreds of possible genetic syndromes.

Inheritance pattern

Variable.

Important genes

Diverse, depending on syndrome.

Who should be tested?

All children with significant delay.

Recommended tests

Microarray, WES, Fragile X.

Counseling

Management guidance and family evaluation.

Frequently Asked Questions

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Gene Negar Ayandegan · Genetic Testing for Developmental Delay