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Prenatal Diagnosis


Our prenatal diagnostic testing services are rapidly expanding. We make great effort to ensure that results are delivered without delay. Usual turn-around-time for a prenatal test is 2 weeks. Each prenatal test is assigned to one of our genetic counselors who can assist you throughout the testing process.

This page outlines all necessary information for submission of a prenatal test. However, if you have any questions, please contact our genetic counseling team directly .

Prenatal Diagnosis includes
  • Duplicate analysis of fetal specimen to assure consistent results
  • Maternal cell contamination studies
  • Analysis of positive and negative controls, if available.
Indications for Prenatal Testing are
  • When mutation(s) have been identified in an affected family member or known carrier(s)
    Mutations previously identified in a research laboratory must be confirmed at GeneDx, Inc. in an affected family member or known mutation carrier BEFORE (or at the time of) prenatal testing. For mutations previously identified at GeneDx, Inc., prenatal testing can be started immediately.
  • When prenatal ultrasound findings show features consistent with a disorder for which we offer molecular diagnosis. Examples include Noonan syndrome, X-linked Hydrocephalus, Androgen Insensitivity syndrome, and Holt-Oram syndrome. (Price depends on gene being tested.)
Requirements for Prenatal Testing
  • Required information ( Sample Submission Form )

    - Patient name or identifier
    - Name of physician or genetic counselor
    - Reporting address, fax and phone numbers
    - Sample type and date obtained
    - Gene & mutation information
    - Family history
    - Gestational age
    - Relationship and name(s) of other relatives tested

  • Specimen Requirements

    • Prenatal specimen (   Click here for printable instructions for collecting a prenatal sample)

    • A maternal blood or buccal specimen is obligatory and required for maternal cell contamination (MCC) studies. Please send 2-5 mL whole blood in EDTA in a purple top tube. We also request (if possible) a paternal blood or buccal specimen.

    • Positive control specimen(s) for proper interpretation of fetal test results in familial disorders

       -    Sample from an affected family member OR known mutation carrier.
       -    For autosomal recessive disorders, blood samples from BOTH parents. If parental carrier testing has not been performed previously and a report is desired, this service can be provided
      (Please see Carrier Tests page)

Shipment Information

        Please click here for printable instructions for sending prenatal specimens.


Prenatal Diagnosis CPT Codes and Prices

        Click here for printable document



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