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:
- Pompe Disease Mutation Analysis (GAA) by Sequencing – Full Sequencing
- Pompe Disease Mutation Analysis (GAA) by Sequencing – Partial Sequencing
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.