TEST CODE: 008835
DIAGNOSTIC TEST FOR: IMMUNOLOGY
TURNAROUND TIME: 10–21 calendar days (14 days on average)
PREFERRED SPECIMEN: 3mL whole blood in a purple-top tube
ALTERNATE SPECIMENS: DNA or saliva/assisted saliva
Genetic testing for Immunology
Our panels include over 3,900 genes selected based on curated gene reviews, variant databases (HGMD and ClinVar), most recent literature, and customer requests. We offer enhanced clinical utility, maximized diagnostic yield, empowered differential diagnosis as well as analytically validated up-to-date genes across all our panels. Difficult-to-sequence genes are covered with high quality enabling true diagnostic impact in challenging patient cases.
Fast and reliable diagnosis of primary immunodeficiencies (PIDs) can be life-saving. Certain defects necessitate prompt stem cell transplantation to prevent organ damage caused by opportunistic infections and to avoid an inevitable fatal outcome associated with the natural course of the disease. Some PIDs require personalized follow-up and supportive care to improve the outcome of affected patients.
All defects causing bone marrow failure lead to severe immunosuppression and may necessitate stem cell transplantation as the preferred treatment. An increased risk of cancers is characteristic in almost all immunodeficiencies. Some immunodeficiencies, such as defects in the complement pathway, may also present later in life with characteristics related to an abnormal outcome of common infections.
What genetic diagnostics can be offered to patients with hereditary immunodeficiencies?
Accurate genetic diagnosis of the immunodeficiency, combined with a detailed disease phenotype, is crucial in characterizing these rare diseases. It also improves treatment and follow-up strategies for affected patients and their family members. Identifying family members at risk makes it possible to begin preventive treatments and/or make lifestyle recommendations. It also justifies routine follow-ups by healthcare professionals. Genetic diagnosis can also help in family planning.
What are the benefits of genetic testing?
Genetic testing produces information that may help you or your healthcare provider:
– establish or confirm your specific diagnosis
– provide an explanation of the underlying cause of your heart condition
– uncover potential risk of developing an underlying, multi-system condition that affects more than your heart
– make informed medical decisions and provide an opportunity to start risk reduction strategies
– identify other at-risk relatives for whom genetic testing is recommended
– make informed family planning decisions
Genomed’s Immunology panels
CLINICAL AREA: HEREDITARY CANCER
DYSKERATOSIS CONGENITA
– Dyskeratosis Congenita Panel
CLINICAL AREA: METABOLIC NEWBORN SCREENING AND IMMUNOLOGY
PRIMARY IMMUNODEFICIENCY
– Primary Immunodeficiency Panel
ANTIBODY DEFICIENCIES
– Agammaglobulinemia Panel
– Common Variable Immunodeficiency Panel
– Hyper IgE Syndrome Panel
– Hyper IgM Syndrome Panel
AUTOINFLAMMATORY SYNDROMES
– Autoinflammatory Syndromes Panel
– Familial Mediterranean Fever Test
– Monogenic Inflammatory Bowel Disease Panel
– Periodic Fever Syndromes Panel
COMBINED T/B CELL DEFICIENCIES
– Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel
IMMUNE DYSREGULATION
– Autoimmune Lymphoproliferative Disorders (ALPS) Panel
– Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel
PHAGOCYTIC DEFECTS
– Phagocyte Defects Panel
Please contact us for the complete list of genes included on the multi-immunology panel and associated conditions.
What are the potential results?
A POSITIVE TEST RESULT CAN:
If testing identifies a variant associated with heart disease, consult with your healthcare provider to create a management plan and to identify relatives who may need to be tested.
A NEGATIVE TEST RESULT:
If testing identifies no variants associated with a hereditary heart disease, the underlying cause of your heart condition remains unknown. As our knowledge of genetics improves, additional genetic testing may become available.
AN UNCERTAIN VARIANT TEST RESULT:
In some cases, testing can identify a variant, but it is not known at this time whether the variant is associated with heart disease. If new information about your family history of heart conditions becomes available, this could change what your test results mean for you and your relatives. Always let your healthcare provider know if there are any updates regarding your family medical history.
Take action based on your result.
With Genomed, you can make health decisions based on your results. Our medical-grade tests are the same tests used by doctors and genetic counselors. Based on your results, you can work with your healthcare provider to consider:
– increased or earlier screenings
– lifestyle modifications
– early intervention to prevent the onset of disease