Safe: Routine blood draw (7-10mL), offered to patients at high risk, age 35 and above, as well as twin pregnancies
Accurate: Directly analyzes cell free DNA and maternal DNA
Early Screening: Test can be performed as early as 10 weeks gestation
Fast: 3-5 business days to report after sample received
The basic test screens for:
Trisomy 21 (Down syndrome)
Trisomy 18 (Edwards syndrome)
Trisomy 13 (Patau syndrome)
With additional options for:
Sex Chromsome Aneuploidies
Trisomies 9 & 16
Microdeletions (DiGeorge, Angelman/Prader-Willi, 1p36-, Wolf-Hirschhorn, Cri-Du-Chat)
Cystic fibrosis Screening
Detect and identify 39 most common mutations in the cystic fibrosis trans-membrane conductance receptor (CFTR) gene, including the core panel of 23 mutations recommended by ACMG. Turn around time of 2 weeks.
Specimen Type: Buccal Swab
Spinal muscular atrophy
Carrier assay tests for the common SMN1 deletion, which is present in 95-98% of individuals with SMA. Turn around time of 2 weeks.
Fragile X Syndrome testing
PCR testing used to determine repeat ranges of CGG repeats found in the Fragile X Mental Retardation (FXMR) gene, where the greater the repeats the more sever the syndrome .Turn around time of 2 weeks.
CytoSNP-850K Beadchip Microarray
Fluorescence In Situ Hybridization (FISH) Prenatal
13 (green),21 (red)
18 (aqua),X (green),Y (red)