Indications for Assure SNP Microarray Analysis
- Developmental Delay
- De novo apparently balanced chromosomal rearrangement
- Identification of marker chromosome
- Desire for additional information not provided by routine karyotyping
- Autism
- Family history of a chromosome abnormality
- Congenital anomalies
- Ambiguous genitalia
- Recurrent miscarriages or infertility
Specimen Requirements
Peripheral blood: 5-10 ml of blood collected in a lavender top tube (EDTA).
3-5 ml of blood collected in a green top tube (sodium heparin). It is a New York State requirement that chromosome analysis be performed prior to or concurrently with postnatal microarray analysis. Therefore, send 1 lavender top tube and 1 green top tube with 3-5 ml of blood in each if both chromosome and microarray analyses are requested.
Specimen Container
Peripheral blood: 5-10 ml whole blood lavender top (EDTA) tubes and 3-5 ml whole blood green top (sodium heparin).
All specimens must be labeled with the patient’s name, Date of birth and include a completed test requisition.
Methodology
SNP (single nucleotide polymorphism) microarray analysis utilizing 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
- Peripheral Blood: Frozen specimen, hemolyzed, inappropriate collection tube.
- Delay in transport > 72 hours.
Turnaround Time
Direct: Peripheral blood 7 days