Langer-Giedon Syndrome FISH Analysis


Related Gene(s): EXT1, TRPS1

Langer-Giedion syndrome (8q23.3-q24.11) FISH (fluorescence in situ hybridization) is offered for diagnosis of individuals with clinical features of Langer-Giedion syndrome, including multiple dysmorphic features such as large laterally protruding ears, a bulbous nose, an elongated upper lip, sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, bone abnormalities, and mild cognitive impairment to mental retardation. The detection rate of deletion/duplication by FISH analysis for this disorder is approximately 95%.


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

Turnaround Time

  • Prenatal: 5-7 days
  • Postnatal: 7-10 days


Resources

Prenatal Test Requisition with Natera NIPT
Prenatal Test Requisition with Sequenom NIPT
General Test Requisition