Georgia Esoteric and Molecular Lab, LLC

• Home Page
• Test Menu
  • 1p19q Analysis of Gliomas
  • Chromosome MicroArray Analysis
  • Cystic Fibrosis
  • EGFR by FISH
  • Factor II
  • Factor V
  • Genomic MicroArray Analysis
  • HIV Genotyping
  • HIV Viral Load Standard
  • HIV Viral Load Ultrasensitive
  • PathVysion™ (HER2/NEU) By FISH
  • PTEN by FISH
  • UroVysion™ By FISH
• Staff
  • Stephen Peiper, MD
  • John Steele, MD
  • Anita Kulharya, PhD
  • Zixuan Wang, PhD
• Contact Us
• Requisition Forms
• Molecular Cytogenetics Requisition

Chromosome Microarray Analysis

Test Ordering Code: 2132

CPT Codes: Please call lab for price information and CPT codes before ordering

Turnaround Time:

7-10 business days (Testing can be expedited upon special request)

Specimen:

Two tubes containing 4-5 mL of whole blood; one in sodium heparin and one in EDTA vacutainer transported at room temperature. Skin biopsy or other tissue can be submitted in a medium available from the laboratory. Frozen or refrigerated specimens are not accepted .

Clinical Significance:

The routine chromosome analysis is limited to a lower resolution of the genome that fails to detect subtle chromosome abnormalities. Microarray analysis by comparative genomic hybridization ( CGH ) allows the detection of cryptic genetic imbalances in the whole genome in a single experiment. Graphic representation of the ratio plots of the analyzed data provides a genomic profile. Any imbalances present are identified directly on the ratio plots. Any observed imbalance is confirmed by FISH. This technique does not detect balanced rearrangements such as translocations, inversions, smaller deletions or point mutations.

Indications for Testing:

This test may be performed on patients with an apparently normal karyotype. However, a strong suspicion of genetic imbalance remains in these patients with dysmorphic features, multiple congenital anomalies, mental retardation, and/or developmental delay.

Methodology:

Array based comparative genomic hybridization. This technique involves preparation of the patient DNA, fluorescent labeling, hybridization and analysis. Briefly, genomic clones from specific regions of the genome are arrayed on a glass slide. Differentially labeled patient and reference DNA are cohybridized to the array. The ratio of the hybridization signal of the patient to reference DNA determines the copy number of each clone. BAC clones representing all telomeric, centromeric and disease loci associated with specific syndromes are arrayed on the Constitutional ChipT 1.0 used for this test.

Reference Interval:

Normal: No genomic imbalance detected

Abnormal: Reported as observed

References:

Bassem A. Bejjani, Aaron Theisen, Blake C. Ballif and Lisa G. Shaffer. Array-based comparative genomic hybridization in clinical diagnosis. Expert Review of Molecular Diagnostics May 2005, Vol. 5, No. 3, Pages 421-429

Joris R. Vermeesch, Cindy Melotte, Guy Froyen, Steven Van Vooren, Binita Dutta, Nicole Maas, Stefan Vermeulen, Björn Menten, Frank Speleman, Bart De Moor , Paul Van Hummelen, Peter Marynen, Jean-Pierre Fryns and Koen Devriendt Molecular Karyotyping : Array CGH Quality Criteria for Constitutional Genetic Diagnosis. Journal of Histochemistry and Cytochemistry 53 (3): 413-422, 2005

© Copyright 2005 Georgia Esoteric and Molecular Labs, LLC