When you and your patient need diagnostic testing, either for routine prenatal diagnosis, confirmation of NIPT results, 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, fluorescent in situ hybridization (FISH), or SNP microarray on multiple sample types including, amniotic fluid, chorionic villi, POC samples, blood, buccal and saliva samples—we deliver insights for every stage: fetal, pediatric, and adult.
Where some genetic testing companies require patients to go elsewhere for diagnostic testing, we offer both continuity and choice.
Reveal cytogenetic microarray
Integrated Genetics SNP microarray has applications for pediatric (cord blood, peripheral blood, and buccal swab), prenatal (amniocytes or chorionic villi), and POC sample types.
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
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.
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
The hereditary thrombophilias are a group of inherited conditions that can predispose to thrombosis. Integrated Genetics offers choice in testing for thrombophilia.
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 Noonan Syndrome and Related Conditions Profile: Confirm a clinical diagnosis of Noonan syndrome and identify presymptomatic family members, guiding prophylactic measures. Prenatal diagnosis for at-risk pregnancies when a parent is affected or when nuchal translucency, thickening or cystic hygroma or related abnormalities are seen on fetal ultrasound. We test for 9 genes associated with Noonan and Noonan-like syndromes.
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.
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:
- Pompe Disease Mutation Analysis (GAA) by Sequencing – Full Sequencing
- Pompe Disease Mutation Analysis (GAA) by Sequencing – Partial Sequencing
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.
1. ACOG Practice Bulletin No. 162: Prenatal Diagnostic Testing for Genetic Disorders, Obstet Gynecol. 2016 May;127(5):e108-22