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Updated: May 5, 2026

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

Array CGH Analysis and Developmental Delay: A Diagnostic Tool for Neurologists.

F Cameron, J Xu, J Jung

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques

|November 22, 2013

Summary

This summary is machine-generated.

Array Comparative Genomic Hybridization (aCGH) is the most sensitive test for diagnosing developmental delay, identifying genetic causes in 50% of cases. This genetic testing improves prognosis, recurrence risk assessment, and medical management for affected individuals.

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Area of Science:

Genetics
Developmental Biology
Medical Diagnostics

Background:

Developmental delay affects 1-3% of the population, with unknown causes in about 50% of cases.
Previous genetic testing included chromosome analysis and subtelomeric FISH, which are less sensitive than newer methods.
Array Comparative Genomic Hybridization (aCGH) has become a crucial tool for detecting genetic abnormalities.

Purpose of the Study:

To highlight the diagnostic utility of aCGH in identifying the etiology of developmental delay.
To demonstrate how aCGH improves patient care through accurate diagnosis, prognosis, and management.
To advocate for the use of aCGH as a first-line diagnostic test.

Main Methods:

Utilizing aCGH to detect copy number variations and uniparental disomy.
Analyzing a case study of a 31-year-old male with global developmental delay and a 4q21 deletion syndrome.
Reviewing the diagnostic capabilities of aCGH compared to traditional genetic tests.

Main Results:

aCGH is the most sensitive test for etiological diagnosis of developmental delay.
The study presents a case of 4q21 deletion syndrome diagnosed via aCGH.
aCGH facilitates the identification of novel genetic syndromes associated with developmental delay.

Conclusions:

aCGH is recommended as a first-line genetic test for individuals with undiagnosed developmental delay and congenital anomalies.
This technology provides crucial information for prognosis, recurrence risk, and medical management.
aCGH significantly enhances the diagnostic yield for developmental delay.