GeneDx code = 460

Prenatal Whole Genome Chromosomal Microarray (PRENAT SNP)

Prenatal Whole Genome Chromosomal Microarray

Suspected deletion/duplication syndrome Family history of known or suspected chromosome imbalances Abnormal maternal serum screening Advanced maternal age The prenatal targeted CMA focuses on detection of CNVs in approximately 150 cytogenetically relevant regions, including common or novel microdeletion and microduplication syndromes. Deletions > 1 Mb and duplications >2 Mb in the remainder of the genome are also assessed. In addition, SNP probes covering only chromosomes known to contain imprinted regions (specifically, chromosomes 6, 7, 11, 14, 15, and 20) can provide information regarding ROH and UPD on those chromosomes.

Body Fluid, Other

Sterile Tube

Note: Diagnosis must be indicated on request Amniotic Fluid, Cultured cells or POC Container/Tube: Sterile transport tube Specimen: Amniotic Fluid 10 - 15 mL Chronic Villi 5 - 10 mg Cultured cells 2 T-25 flasks 3 Ug DNA Concentration Transport Temperature: Room Temperature or Refrigerated Additionally, please send: Parental blood specimens 1 Lavender top EDTA tube for maternal confirmation studies,or if parental specimens are needed for testing and result interpretation

Room Temperature or Refrigerated

Whole Genome Chromosomal Microarray

TAT: 8-15 Days for Direct Specimen Please add 7- 14 Days if direct was not possible and cultured cells are prepared

GeneDx

81229 81265 88235

1659898