Indications
- Infertility
- Multiple miscarriage
- POC samples for which chromosome studies fail
Specimen Requirements
- Prenatal: 10mg of POC tissue (Fetal/villi).
- Postnatal: 3-5 cc of blood collected in a laverder top (EDTA) tube. It is a New York state requirement that chromosome analysis be performed prior to or concurrently with postnatal microarray analysis. Therefore, send 1 green top tube (sodium heparin) with 3-5 cc of blood if both chromosome and microarray analyses are requested.
Specimen Container
- Prenatal: POC: Sterile container containing sterile transport medium
- Postnatal: Whole Blood Lavender top tube (EDTA) & Green top (sodium heparin) tube
Label tube/container with patient’s name and date of birth. A completed test requisition form must be included with every sample. A transport kit is available upon request.
Methodology
SNP (single nucleotide polymorphism) microarray analysis which utilizes more than 2.6 million copy and allele specific genomic sites. SNP analysis can detect copy neutral changes including uniparental disomy (UPD) and areas of homozygosity suggestive of consanguinity. Abnormal results are confirmed with Fluorescence In Situ Hybridization (FISH analysis).
Transport Temperature
Room temperature (DO NOT refrigerate, freeze, or centrifuge).
Causes for Rejection
- POC Frozen, Fixative, contamination, no fetal tissue
- Postnatal: Frozen specimen, inappropriate container
Turnaround Time
- Prenatal: POC: 7 days, Cultured cells: 7 days (additional time required for culturing is 10-14 days)
- Postnatal: 7 days