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

Prenatal

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

 

Postnatal

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

Ordering Information

Shipping

  • Ship at room temperature
  • Ship to:
    Sema4
    62 Southfield Ave, Stamford, CT 06902
    Phone: 800-298-6470 / Fax: 646-859-6870

 

Turnaround Time

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

 


Resources

Chromosomal Microarray Information Sheet