Icahn School of Medicine at Mount Sinai
Mount Sinai - Twitter Mount Sinai - YouTube Mount Sinai - Facebook

Genetic Testing Lab

Test Catalog Cytogenetics and Cytogenomics Laboratory Chromosome Microarray aCGH + SNP Testing

Chromosome Microarray aCGH + SNP Testing

Test Description:
Chromosome microarray using array comparative genomic hybridization with single nucleotide polymorphism (array CGH+SNP) testing is a comprehensive analysis to examine the entire genome for deletions and duplications as well as copy neutral changes that may be clinically significant. The high resolution array CGH microarray that we offer utilizes ~180,000 CGH+SNP probes covering the entire genome with enriched coverage in regions known to be involved in submicroscopic chromosome abnormalities. This array yields high resolution detection of deletions and duplications with aberrations < 1kb possible in known genomic loci. The additional SNP probes allow for the simultaneous detection of regions of homozygosity for detection of uniparental disomy (UPD) and large regions with copy neutral absence of heterozygosity (AOH). 

Below are the benefits of CGH+SNP testing: 

  • Diagnose children with developmental delay, intellectual disability, and/or multiple congenital anomalies
  • Identify a specific genetic etiology in children diagnosed with Autism Spectrum Disorder
  • Aid in diagnosing a child or adult that presents with non-classical features of a genetic syndrome
  • Aid in diagnosing a fetus presenting with ultrasound abnormalities
  • Higher resolution than conventional karyotyping to identify pathogenic deletions and duplications
  • Detect chromosomal aneuploidies (e.g. trisomy 21 and 45, X)
  • Detect unbalanced rearrangements that are de novo or associated with parental balanced structural aberrations
  • Diagnose UPD
  • Identify copy neutral AOH indicative of autosomal recessive disorders

Note: All abnormal results are confirmed in-house using fluorescence in situ hybridization (FISH)

Specimen Requirements:
Postnatal: Whole blood in EDTA (lavender top) tube: minimum 5-10 ml AND whole blood sodium heparin (green top) tube: minimum 5-10 ml
Amnio: 10-15 ml direct fluid in a sterile conical centrifuge tube
CVS: 5 mg chorionic villi in sterile saline OR transport media
Cultured cells: 2 confluent T-25 flasks
POC: skin, cord, or villi in sterile saline

Shipping: Ship at room temperature or refrigerated.

Turnaround Time: 7- 14 days

CPT Codes: 
Postnatal: 81479, 88230, 81228
Prenatal: 81228, 81479, 88235, 88291, 81265

Consent Forms: 
Postnatal Consent [PDF]
Prenatal Consent [PDF]
POC Consent [PDF]

Requisition Forms: 
General Test Requisition [PDF]
Prenatal Test Requisition [PDF]

Other Forms: aCGH + SNP information [PDF]