Noninvasive prenatal Cell Free DNA screening test for high risk pregnancy from one simple blood draw

  • 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

    • Provides the most comprehensive coverage of cytogenomic-relevant genes for constitutional abnormalities
    • Increased performance and detection sensitivity
    • ~Over 850,000 single nucleotide polymorphisms (SNPs) screened with 15x redundancy
    • High Detection Sensitivity for Low-level mosaics
    • Turn around time of 7-10 days
    • Specimen type: Amniotic Fluid, Chorionic Villi (CVS) and Product of Conception (POC)
  • Fluorescence In Situ Hybridization (FISH) Prenatal

      AnuVysion (FDA Approved)
    • 13, 18, 21, and Sex Chromosome aneuploidies
    • Turn around time of 1 day
    • DiGeorge, Prader-Willi, Angelman, Williams, SRY, Wolf-Hirschhorn, Cri-du-Chat, Smith-Magenis., Kallman, Miller-Dieker, STS, and XIST
    • Turn around time 4-6 Days
  • 13 (green),21 (red)

  • 18 (aqua),X (green),Y (red)

  • Chromosome analysis

    • Evaluation of number and structure of all 46 human chromosomes, relating any abnormalities to possible disease
    • Useful for determining possible causes for infertili-ty, stillbirth, and multiple spontaneous abortions
    • Band-for-Band analysis of each chromosome after the final processing step of staining
    • Turn around time of 3-10 days