Genetic Diseases

Genetic Testing for Intellectual Disability

Intellectual disability has many genetic causes; WES and karyotype are key diagnostic tools.

Genetic Diseases

What is ID?

Impaired cognitive ability and adaptive functioning beginning during development.

Symptoms

Delays in learning, speech and behavioral skills.

Genetic causes

Aneuploidies, CNVs and monogenic mutations.

Inheritance pattern

Variable.

Important genes

FMR1, MECP2, ARX and hundreds of others.

Who should be tested?

All children with moderate-severe unexplained ID.

Recommended tests

Karyotype, microarray, WES, Fragile X.

Counseling

Recurrence risk assessment for the family.

Frequently Asked Questions

Contact Gene Negar Ayandegan

Contact Gene Negar Ayandegan for sample submission, laboratory collaboration, or more information.

Related content

Gene Negar Ayandegan · Genetic Testing for Intellectual Disability