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Fax: 508-389-5549

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Spinal Muscular Atrophy (SMA)

~1 in 41 carrier frequency 

Learn more about 
SMA testing

For Patients

MyTestingOptions.com

Prepare for visits with your doctor or a genetic counselor by learning about testing.

My Testing Options

FirstScreen® - First Trimester Screening

FirstScreen screens for fetal Down syndrome and trisomy 18 between 10 weeks / 3 days and 13 weeks / 6 days (10.4-13.9 weeks, CRL = 39-84 mm). Two biochemical markers, pregnancy associated plasma protein (PAPP-A) and human chorionic gonadotropin (hCG), and the nuchal translucency (NT) ultrasound measurement are combined to provide a risk assessment in the first trimester.

CPT Codes:

84163(1), 84702(1)


Specimen Requirements:

Please Note: Genzyme will only accept NT measurements from sonographers who have been certified by the Fetal Medicine Foundation (FMF) or the Nuchal Translucency Quality Review Program (NTQR). Please submit certification information before sending specimens for FirstScreen. Please contact our Client Services Department with any questions.

  1. Serum:
    • 2-3 ml (unhemolyzed) in serum separator tube (SST).
  2. Dried Blood Spot:
    • Dried blood spots collected on Genzyme provided filter paper/test requisition.
    • Fill a minimum of three circles completely with blood.
    • Please Note: If prenatal carrier screening for cystic fibrosis is ordered in conjunction with first trimester screening all six circles should be filled.
  3. Whole Blood:
    • Serum separator tube (SST) or red-top tube.
    • 7 ml in SST or 10 ml in red-top tube; allow to clot; centrifuge (15 minutes at 1,000 g) to prevent hemolysis.

Turnaround Time:

2-3 days


Client Services: Reproductive/Genetics   800-848-4436

Specimen Services/Pickup:  877-246-1226

FirstScreen® is a registered service mark of Genzyme Corporation

Reproductive/Genetics Client Services

Tel: 800-848-4436