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Specimen Requirements

Tests and Compatible Specimen Types
  • All tests provided by GeneDx are listed in column 1. The specimen types that can or cannot be used for each test are indicated.
  • Click on the headers for more technical information on Quantity, Stability, Excluded Tests, Shipping and Handling.
  • In addition, see the main Tests Offered menu for an Information Sheet on each Test/Gene, with requirements and shipping conditions for that test's most typical specimen types, as well as indications, prices and CPT codes.
  EDTA Blood including cord blood GeneDx Buccal Brush Kit for patients age >6 mo DNA Amniocytes, CVS; Fresh or Cultured Other Cultured Cells Other Tissue, POC click to see
Any Conventional DNA Sequencing Test YES YES but some genes are excluded

See Here
YES YES, if indicated based on ultrasound
Findings

*See Below*
YES CALL or email first
Affymetrix Resequencing Array YES NO YES
see specific specimen requirements
See above
(Direct amniotic fluid NOT accepted!)
YES CALL or email first
Next Generation Sequencing YES NO YES
see specific specimen requirements
 NO YES CALL or email first
GenomeDx OligoArray CGH YES NO YES
see specific specimen requirements
Limited to known familial abnormalities, call or email first YES CALL or email first
ExonArrayDx YES NO YES
see specific specimen requirements
CALL or email first YES CALL or email first
CopyDx qPCR and/or MLPA YES NO YES
see specific specimen requirements
CALL or email first YES CALL or email first
*In general, prenatal testing is only available if a familial mutation is known. Exceptions include several disorders with diagnostic fetal ultrasound abnormalities.* For a Listing Click Here.