Specimens should be shipped at room temperature in a leak-proof, rigid container with overnight delivery. To discuss minimum acceptable specimens for prenatal patients or for sample types not listed, please contact Allele Diagnostics.
- Amniotic fluid: 15-20 mL whole fluid
- Cord blood or PUBS: 1 mL NaHep and 1 mL EDTA whole blood
- Chorionic villus sampling (CVS): 5-10 mg tissue in sterile media or saline
- Cultured Cells: 2 x T-25 flasks (70% confluent)
- DNA1,2: 5 μg
- Products of conception (POC): 15-20 mg in sterile media or saline
81229 x1, 88233 x1 (POC), 88235 x1 (amnio/CVS)
- Abnormal fetal ultrasound.
- Any patient undergoing invasive prenatal testing.
- Diagnosis of trisomies in addition to microdeletions/duplications for rapid results.
- Family history of balanced rearrangement (for detection of unbalanced rearrangement).
- Fetal loss or stillbirth.
Test is performed using array CGH with SNP analysis.
In general, microarray is useful for detecting most large and small structural chromosome abnormalities and copy neutral AOH with rapid results. FISH visualization is routinely performed following an abnormal microarray result and reported independently from the microarray. Karyotype should be performed in conjunction with microarray if detection of balanced abnormalities is desired.
The CGH portion of this microarray can identify numeric chromosomal abnormalities as well as unbalanced structural abnormalities. The microarray is designed to target pericentromeric regions, subtelomeric regions, and regions associated with copy number abnormalities. In addition, a less dense backbone provides coverage throughout the whole genome. Abnormalities larger than approximately 20 kb in targeted regions and 80 kb in backbone regions can be identified. Test results will be reported as: 1) clinically significant, 2) abnormality identified with unclear clinical significance, or 3) normal (no clinically significant or unclear abnormalities identified). Copy number changes that are unlikely to have clinical relevance at the time of report will be noted in the report.
The SNP component of this microarray will detect long continuous stretches of homozygosity (or absence of heterozygosity, AOH). AOH can be indicative of uniparental disomy (UPD) if within a chromosome, or an increased risk of a recessive disorder if identified across multiple chromosomes. Note that for some regions of the genome, AOH of 8-10 Mb may be within normal limits and will not be reported. There are a small number of chromosome regions which are associated with imprinting or UPD disorders. AOH of 5 Mb or more will be reported for regions that have previously been associated with imprinting conditions. The SNP component of this assay also has the ability to determine an overall level of homozygosity throughout the genome of 5% or more. If identified, this will be reported as it may be reflective of identity by descent and an increased risk for recessive disorders. Clinical correlation is required to properly assess a potential for relatedness. In addition, this assay cannot determine whether the alteration is paternal, maternal or de novo in origin. Additional UPD or molecular testing may be required.
- American College of Obstetricians and Gynecologists Committee on Genetics. Committee Opinion No. 581: The use of chromosomal microarray analysis in prenatal diagnosis. Obstet Gynecol, 122(6):1374-1377 (2013). PubMed: 24264715
- American College of Obstetricians and Gynecologists. Practice Bulletin No. 162 Summary: Prenatal Diagnostics Testing for Genetic Disorders. Obstet Gynecol, 127(5):976-978 (2016). PubMed: 27101119
- Shaffer LG et al., Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound. Prenat Diagn. 32(10):986-95 (2012). PubMed: 22847778