Genetic Diseases

Genetic Testing for Autism Spectrum Disorder (ASD)

A substantial portion of ASD cases have an identifiable genetic basis.

Genetic Diseases

What is ASD?

Neurodevelopmental disorder with social-communication challenges and stereotyped behaviors.

Symptoms

Social interaction difficulty, restricted interests, sensory sensitivities.

Genetic causes

CNVs, monogenic mutations and polygenic factors.

Inheritance pattern

Variable and multifactorial.

Important genes

SHANK3, CHD8, MECP2, FMR1.

Who should be tested?

All children with a confirmed ASD diagnosis.

Recommended tests

Microarray, Fragile X and WES.

Counseling

Recurrence risk estimation and interpretation of findings.

Frequently Asked Questions

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Gene Negar Ayandegan · Genetic Testing for Autism Spectrum Disorder (ASD)