Molecular Karyotyping (Array CGH)
Molecular karyotyping is a valuable tool for detecting and mapping Copy Number Variations (CNVs) in the genome. Resulting microdeletions or microduplications may have pathological consequences or represent benign polymorphic variations, contributing to human genomic diversity.
CNVs can arise from additions, deletions, or duplications of chromosomal regions, ranging in size from a few kilobases (Kb) to several megabases (Mb). They are associated with approximately 6,500 regions across the human genome, which is chromosomally polymorphic in ~20% of cases.
Polymorphic chromosomal rearrangements (additions, deletions, duplications) can have the following consequences:
- Potential changes in gene dosage, affecting protein expression
- Loss of gene function
- Alteration of gene structure
- Dysregulation of gene expression
These genomic changes can lead to pathological phenotypes.
Molecular karyotyping is recommended in cases of:
- Postnatal evaluation with intellectual disability and normal karyotype
- Prenatal assessment with normal karyotype and abnormal ultrasound findings
- Detection of de novo chromosomal abnormalities
Turnaround Time: 1 week