Gene-Centric CNV Analysis via aCGH
Use
This high density gene-centric (HDGC) array comparative genomic hybridization (aCGH) test is designed to detect copy number variants (CNVs) within specific genes of interest. It is particularly suitable for family members of patients with identified gene-centric CNVs, individuals with genetic disorders mainly caused by CNVs in a small number of genes, and those with presumed autosomal recessive disorders where previous DNA sequencing found only one pathogenic variant.
Special Instructions
Gene-centric aCGH is an excellent complementary test when DNA sequencing fails to identify the causative pathogenic variant(s) and clinical suspicion is high for disease caused by a particular gene. The test requires specifying the genes of interest during the ordering process. Only the data for the gene(s) of interest will be analyzed.
Limitations
The method may not detect deletions and duplications at low levels of mosaicism or in genes with pseudogene copies elsewhere in the genome. It cannot detect balanced chromosomal rearrangements like inversions or balanced insertions. The array may not identify deletions/duplications smaller than 100-300 bp due to probe spacing limitations, and duplications' chromosomal location or orientation (direct/inverted) cannot be determined. Failure to detect an alteration does not exclude genetic disorders associated with the site. Common CNVs and those confined to deep intronic sequences lacking clinical significance documentation will not be reported.
New York Approved
Methodology
Chromosomal / Cytogenetics (aCGH)
Biomarkers
Result Turnaround Time
9-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided