Personalized Genomic Medicine

Maternal Fetal Medicine

SNP Oligonucleotide Microarray Analysis (SOMA)

Purpose: Identify copy number changes associated with disease.
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
Specimens: 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)
Forms: 1. Requisition Form/Medical Questionnaire
2. Informed Consent Form - SOMA
3. Insurance Pre-Authorization Form

Cystic Fibrosis Screening

Purpose: Reproductive carrier screening for common CFTR mutations 23 and 60.
CPT Codes: 81220
Methodology: Multiplexed PCR with bead hybridization
Turnaround Time: 14 days
Specimen: Blood in EDTA
Forms: 1. Genetic Carrier Screening Requisition Form
2. Informed Consent Form - Cystic Fibrosis Screening
 
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