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.
Specimen Type
Body Fluid, Other
Container
Sterile Tube
Collection Instructions
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
Transport Instructions
Room Temperature or Refrigerated
Specimen Stability
Methodology
Whole Genome Chromosomal Microarray
Days Performed
TAT: 8-15 Days for Direct Specimen Please add 7- 14 Days if direct was not possible and cultured cells are prepared
