Our result reports are specifically designed to provide clinically relevant information for optimal patient management; final diagnoses are clearly stated and additional interpretive information is provided. The following reports are annotated sample reports for some of our most common genomic tests offered through the Alliance. Click on any report below to learn the utility of each section provided on the report.
Mitochondrial Disorders: Mitochondrial Genome Sequencing
Dysmorphology: Noonan Spectrum Disorders Panel
Hereditary Cancers: High/Moderate Risk Breast Cancer Sample Report
Cardiac Disorders: Long QT Syndrome (LQTS) Sample Report
Neurological Disorders: Tuberous Sclerosis Panel Sample Report
Oncology: OnkoSight Colorectal KRAS Positive Sample Report
HLA: HLA-B27 Sample Reports
Carrier Screen: InheriGenPlus Sample Report
Prenatal: T21 Chromosome Analysis Sample Report
Most cancer is not hereditary; however, some individuals develop cancer as a result of a harmful...
The clinical utiliy of cancer genomics in patient diagnosis and management is multifaceted; genetics are...
Carrier screening is a type of genetic testing performed on people who display no symptoms for a genetic...
Prenatal diagnostic testing refers to understanding the genotype of the fetus and is performed while...
Inherited heart conditions can affect people of any age and can be life-threatening. For many families...
Inherited neuropathies are a large group of genetically and phenotypically heterogeneous...
Disorders of sex differentiation, also known as disorders of sex development (DSD)...
A dysmorphic feature is a difference of body structure. It can be an isolated finding in an otherwise...
Disorders of the endocrine system result in an imbalance of hormones which may be caused when the...
Genetic factors play a role in many kinds of eye disease, including those diseases that are the...
Some disorders of the blood are hereditary, meaning they are passed down from generation to...
Immunodeficiencies occur when part of the immune system does not function properly. The most...
Inherited metabolic disorders are genetic conditions that result in metabolism problems...
A common factor among mitochondrial diseases is that the mitochondria are unable to...
While most renal disorders are not hereditary, some kidney conditions have known hereditary genetic...
There are more than 100 rheumatic diseases and some have a genetic causative component...
Genetic disorders affecting the skeleton comprise a large group of clinically distinct and...
Genetic skin diseases, or genodermatoses, are hereditary conditions that mainly affect...
An HLA (human leukocyte antigen) disease association is defined as a statistically increased...
Special coagulation testing investigates the blood's ability to clot, and how long it takes...