22q11.2/DiGeorge/Velocardiofacial Syndrome FISH Analysis


Related Gene(s): COMT, TBX1

DiGeorge/velocardiofacial syndrome (chromosome location 22q11.2) FISH (fluorescence in situ hybridization) is offered for diagnosis of individuals with clinical features of DiGeorge/velocardiofacial or 22q11 deletion syndrome (learning disabilities, cardiac defects, and psychiatric illness, including schizophrenia and bipolar disorder). The detection rate of FISH analysis for this disorder is approximately 80%.

Specimen Requirements


  • Amniotic fluid: Minimum total specimen size 15 mL
  • Chorionic villi: Minimum total specimen size 4 mg



  • Whole blood: Minimum 5-10 mL in sodium heparin tube (green top)

Ordering Information


  • Ship at room temperature
  • Ship to:
    62 Southfield Ave, Stamford, CT 06902
    Phone: 800-298-6470 / Fax: 646-859-6870


Turnaround Time

  • Prenatal: 14-21 days
  • Postnatal: 6-10 days



Chromosomal Microarray Information Sheet