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Prenatal Diagnostic Testing

As a full service laboratory, GenPath is able to offer a comprehensive menu of prenatal diagnostic tests available for your patients on CVS or amniocentesis samples, as well as products of conception (POC) testing. Whether your patient needs follow up to an abnormal ClariTest result, had an abnormal ultrasound, or is a known carrier for a genetic condition, GenPath can provide the diagnostic testing you need. Our board certified genetic counselors are available to assist you in ordering prenatal diagnostic testing.

Who Should Consider Prenatal Diagnostic Testing?

The American College of Obstetricians and Gynecologists (ACOG) recommends offering the option of chorionic villus sampling (CVS) or amniocentesis to all pregnant women for the prenatal diagnosis of chromosome abnormalities.

Testing should specifically be considered for women who:

  • Will be over the age of 35 at delivery
  • Have an abnormal screening test, such as a first trimester screen, quad screen, sequential screen, or non-invasive prenatal screening (NIPS)
  • Have certain abnormalities seen on ultrasound
  • Have had a previous pregnancy with a chromosome abnormality
  • Have an inherited predisposition to chromosome abnormalities
  • Are at risk for a prenatally diagnosable inherited genetic disorder

Commonly Ordered Diagnostic Tests

Test NameTest Code
Chromosome analysis, CVSA587
Chromosome analysis, Amnio2136
Chromosome analysis, POC1053
Prenatal rapid aneuploidy FISH3582
AF-AFP2122
Prenatal Targeted MicroarrayA583
Whole Genome Array (POC)A591
Prenatal 22q FISHA572
Noonan syndrome panelA590
Known familial mutation prenatalB118
Fragile X PrenatalB131
SMA PrenatalB216
Skeletal dysplasia prenatal panelJ372
L1CAM prenatal sequencingB616
Holopresencephaly Prenatal panelB435
SRY Prenatal Gene Sequencing8612