SNP Oligonucleotide Microarray Analysis (SOMA)
Purpose
Identify copy number variants (deletions or duplications) in the genome that may be associated with health or developmental abnormalities. SNP Microarray using fetal samples is appropriate for increased risk on non-invasive testing, advanced parental age, ultrasound anomalies, concern for familial copy number change and pregnancy loss. Post-natal testing is appropriate for developmental delays, intellectual disability, autism spectrum disorders, congenital anomalies, dysmorphic features, seizures. When large partial chromosome deletions or duplications have been identified on karyotype, microarray can clarify breakpoints. SNP Microarray can identify long continuous strands of homozygosity (LCSH) that may indicate uniparental disomy or common ancestry for the parents of a proband. LCSH and uniparental disomy increase risks for an autosomal recessive condition. Uniparental disomy may cause imprinting disorders.
CPT Codes
81229
Methodology
Whole genome SNP based cytogenomic microarray analysis. For prenatal specimens, we also offer a targeted approach whereby we report clinically significant copy number changes in our “Prenatal Custom" regions.
Turnaround Time
- 7 days for prenatal specimens
- 14 days for non-prenatal specimens
Speciment
Peripheral blood, amniotic fluid (direct or cultured), chorionic villus sample (direct or cultured), products of conception (direct or cultured), DNA (extracted in a CLIA facility)