Prenatal Microdeletion FISH Panel


Related Gene(s): ATPIOA, CDK11A, CDK11B, CHD7, CLIP2, COMT, CREBBP, CTNND2, DNASE1, ELN, EXT1, FL11, GABRB3, GABRD, GTF2I, GTF2IRD1, KCNAB2, LETM1, LIMK1, MAGEL2, MKRN3, MSX1, MYOI5A, NSD1, NSD2, OCA2, PAFAHIB (LIS1), PRDM16, RAI1, SEMAF, snoRNAs, SNRPN, TBX1, TERT, TOP3A, TRAP1, TRPS1, UBE3A, YWHAF

Prenatal microdeletion FISH (fluorescence in situ hybridization) panel is offered as a screening test on direct or cultured amniocytes, or direct or cultured chorionic villi to detect pathogenic microdeletions involved in the following syndromes: 1p36 deletion, Angelman syndrome, CHARGE syndrome, cri du chat syndrome, DiGeorge/velocardiofacial syndrome, Langer-Giedon syndrome, Miller-Dieker syndrome, Prader-Willi syndrome, Smith-Magenis syndrome, Sotos syndrome, Rubinstein-Taybi syndrome, Williams syndrome, and Wolf-Hirschhorn syndrome.

Individual FISH analysis can also be performed for select syndromes in this panel or just one syndrome.


Specimen Requirements

Prenatal

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


Ordering Information

Shipping

  • Ship at room temperature

Turnaround Time

  • 5-7 days


Resources

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