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Diagnostic testing

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Diagnostic testing

Where some genetic testing companies require patients to go elsewhere for diagnostic testing, Integrated Genetics offers continuity of care

When you and your patient need diagnostic testing, either for routine prenatal diagnosis, confirmation of 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.

With a wide range of diagnostic tests—including chromosome analysis, fluorescence in situ hybridization (FISH), or SNP microarray on multiple sample types including, amniotic fluid, chorionic villi, POC samples, blood, and buccal samples—we deliver insights for every stage:  fetal, pediatric, and adult.

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Reveal SNP Microarray

Integrated Genetics SNP microarray has applications for pediatric (cord blood, peripheral blood, and buccal swab), prenatal (amniotic fluid and chorionic villus), and POC (fresh tissue and formalin-fixed paraffin-embedded) sample types.

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Chromosome analysis (amniocentesis/CVS)

Prenatal chromosome analysis is also available. ACOG also recommends that all pregnant women should be offered prenatal assessment for aneuploidy by screening or diagnostic testing regardless of maternal age or other risk factors.1

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.

Reveal® SNP Microarray—POC
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.

Reveal® SNP Microarray – POC (FFPE)
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.

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

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.

Learn more about our coagulation profiles.

Additional diagnostic testing options

Fabry Disease Enzyme Analysis (alpha-galactosidase-A): 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.

GeneSeq: Cardio Profiles: 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.

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.

Microdeletion Analysis (FISH): 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.

NeuroSURESM Epilepsy Gene Panel: Approximately two thirds of epilepsies are thought to have a genetic component, displaying two important features: one gene can be associated with multiple epilepsy disorders, and multiple genes can be associated with one epilepsy disorder.  Individuals with epilepsy who may benefit from genetic testing include those with infantile onset epilepsy refractory to treatment, epilepsy plus developmental delay, or families that may choose to have prenatal testing in future pregnancies.​

Pompe Disease Enzyme Test: 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. Additional testing options include:

Prenatal Noonan Syndrome: 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.

Y Chromosome Microdeletion Analysis: detects microdeletions in three azoospermia factor chromosome regions (Yq11.23) that contain genes with a role in spermatogenesis.

Zygosity Testing: 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. 

If you’ve not had a test and have questions about costs or coverage, use our estimator.

If you have already had a test performed, we can help answer questions about results.

Ask questions about genetic testing options or results, or schedule an appointment.

Reference

1. ACOG Practice Bulletin No. 162: Prenatal Diagnostic Testing for Genetic Disorders, Obstet Gynecol. 2016 May;127(5):e108-22