Advanced Diagnostic testing

A continuity of care

Where some genetic testing companies require patients to go elsewhere for diagnostic testing, Labcorp offers continuity of care When you and your patient need diagnostic testing, either for routine prenatal diagnosis, confirmation of NIPS (NIPT) results, pregnancy loss, follow-up of a high-risk pregnancy, or diagnostic testing of a fetus or neonate when an inherited genetic disorder is suspected, we can help.

A wide range of tests

With a wide range of diagnostic tests— including chromosome analysis, SNP microarray and whole exome sequencing on multiple sample types — we deliver insights for every stage: fetal, pediatric, and adult.

Additional diagnostic testing options

Fabry Disease Enzyme Analysis

Fabry disease is an X-linked disorder of glycosphingolipid catabolism caused by deficient activity of the lysosomal enzyme, α-galactosidase A (GLA). Signs and symptoms include angiokeratomas, ocular opacities, painful neuropathy in the extremities, progressive renal insufficiency and cardiac hypertrophy.

Learn more about Fabry Disease Enzyme Analysis

Familial cardiac diseases are associated with up to 80% of cases of sudden cardiac death in young patients.1 Identification of individuals with pathogenic mutations in genes associated with cardiac disease may allow timely initiation of screening and treatment that may help prevent myocardial infarction, stroke, and sudden cardiac death. These tests are available for order through Labcorp.

Learn more about GeneSeq
Cardio Profiles

Hereditary Hemorrhagic Telangiectasia (HHT)

Hereditary Hemorrhagic Telangiectasia (HHT) is a genetic disorder that causes abnormal development of blood vessels and is present in approximately one in 8,000 people.2 It affects males and females from all racial and ethnic groups. The disorder is also referred to as Osler-Weber-Rendu (OWR) syndrome. These tests are available for order through Labcorp.

Available microdeletion analyses include: Angelman syndrome, cri-du-chat, DiGeorge/Velocardiofacial syndromes, Kallman syndrome, Miller-Dieker syndrome, Prader-Willi syndrome, Smith-Magenis syndrome, steroid sulfatase deficiency (X-linked ichthyosis),  Williams syndrome, Wolf-Hirschhorn syndrome.

Learn more about Microdeletion Analysis (FISH)

Pompe disease is an inborn error of glycogen metabolism due to a deficiency of acid alpha-glucosidase. In the infantile form, clinical symptoms include hypotonia, failure to thrive, and progressive hypertrophic cardiomyopathy. The late-onset form can present from childhood through adulthood with progressive muscle weakness and respiratory dysfunction. 

Learn more about Pompe Disease Enzyme Test

Prenatal diagnosis for at-risk pregnancies when a parent is affected or when abnormalities are seen on fetal ultrasound. Noonan syndrome and Noonan-like syndromes tend to be predominantly associated with different genes or different variants within the same genes.

Learn more about Prenatal Noonan Syndrome

Y Chromosome Microdeletion Analysis

Detects microdeletions in three azoospermia factor chromosome regions (Yq11.23) that contain genes with a role in spermatogenesis.

Learn more about Y Chromosome Microdeletion Analysis

Zygosity testing determines if the fetuses in a multiple gestation are identical or fraternal . Zygosity testing might be desired in cases when ultrasound identifies a discordance between fetuses in a multiple gestation. 

Learn more about Zygosity Testing

Pregnancy loss

Labcorp offers a portfolio of tests to help with differential diagnosis of pregnancy loss and recurrent pregnancy loss (RPL). Differentiating sporadic miscarriages from RPL can be difficult. However, there is guidance from the American Society for Reproductive Medicine (ASRM) on suspected causes, clinical evaluation and patient management. For more information on our comprehensive offering, read the full Recurrent Pregnancy Loss educational newsletter or click the links below.

Detects chromosomal imbalances related to fetal loss. Can be performed directly on POC tissue without having to grow cells, optimizing success rate and turnaround time.

Learn more about Reveal® SNP Microarray

Reveal® SNP Microarray

Ability to analyze formalin fixed paraffin-embedded samples enabling a provider to order a SNP microarray on a patient’s previous pregnancy loss

Learn more about Reveal® SNP Microarray

Cytogenetics blood chromosome analysis

Indications for cytogenetic analysis on blood include: infertility and multiple pregnancy loss; and family history of chromosome abnormality, ultrasound abnormalities or family history of chromosome abnormality.

Learn more about Cytogenetics blood chromosome analysis

Thrombophilia testing

These tests and profiles cover the most commonly ordered laboratory tests assessing the inherited and acquired risks of thrombosis potentially associated with thrombophilia in pregnant women with and without a history of previous thrombosis.

Coagulation profiles

Additional Resources


  1. American College of Obstetricians and Gynecologists. Practice Bulletin No. 162: Prenatal Diagnostic Testing for Genetic Disorders. Obstet Gynecol. 2016;127(5):e108-e122. doi:10.1097/AOG.00000000000014051. 
  2. Abdalla SA, Letarte M. Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. J Med Genet. 2006;43(2):97-110. doi:10.1136/jmg.2005.030833