prevent or change the course of disease through

inherited diseases
genetic testing

Genetic Testing for

Inherited Diseases

Medical conditions that run in a family are inherited or genetic, caused by changes in genes that are passed from generation to generation. Many different types of disease can be inherited, such as cancer, diabetes, cardiac, hematologic, immunologic, hearing loss, visual systems diseases, and the list goes on. Genetic testing for inherited diseases can identify the cause of a familial disease. Testing can also help determine which specific relatives are at risk for developing it. It is important to recognize that results cannot predict when the condition will develop or how severe it may be. Inheriting the mutation is not a guarantee that disease will develop, although it may cause the disease in many people. Furthermore, there are typically few treatments that can prevent or change the course of disease, however genomics provides hope for preventive treatments to be developed in the future.
Genetic testing for inherited diseases should be thought of as a family test rather than a test on an isolated individual. Although the testing process may start by taking a blood sample from one person, the results are best understood when the family is evaluated as a unit. This way, both the genetic test results and medical test results are available, providing the most accurate picture of how the disease and the gene mutations may act in that particular family. Such comprehensive information not only helps to identify specific patterns in the family, but also plays an important role in confirming that the gene mutation is truly an accurate marker of the familial disease.
Determining that you, or a close relative, have or are at risk for an inherited disease can cause a wide range of emotional reactions. Some people may feel a sense of relief from removing the uncertainty about whether they or their children inherited the mutation. Others may feel disappointment or worry to learn that they or their children have inherited the mutation and are definitely at risk for developing a disease, particularly if no treatment to change how, when, and if disease may develop. Learning that you do not carry the family’s mutation will often be a relief, but may also cause feelings of guilt. It is important to consider how you might react to both positive and negative results before pursuing genetic testing for inherited diseases. At PHIX, genetic testing for inherited diseases is performed in conjunction with a healthcare team that has the experience and resources to study the family and to provide important counseling before and after testing. This counseling is integral at PHIX, as it helps individuals make an informed decision about whether pursuing genetic testing is right for them. It also helps to ensure that the individual and their family are appropriately cared for and understand what the results mean.
Expand to see our full list of (Rare) Inherited Diagnostics
Rare Diseases Number of Genes Covered Turnaround Time 
Adrenoleukodystrophy 1 30
Hereditary Amyloidosis 1 30
Spinal Muscular Atrophy (post-MLPA SMN1 NGS sequencing) 1 30
Duchenne Muscular Dystrophy 1 30
Wilson’s Disease 1 30
Cystic Fibrosis 1 30
Fanconi Anemia Panel 18 30
Hereditary Anemias Panel 4 30
Aortic Aneurysm on Panel 23 30
Arrhythmia Panel 35 30
Ataxia Panel 69 30
Autism Panel 43 30
Short Stature Panel 67 30
Chronic Cholestatic Diseases Panel 7 30
Craniosynostosis Panel 4 30
Primary Ciliary Dyskinesia Panel 35 30
Dyslipidemias Panel 4 30
Dystonia Panel 37 30
Muscular Dystrophy, Myopathy and Myasthenia Panel 72 30
Kidney Function Disorders Panel 19 30
Mitochondrial Diseases Panel (Nuclear and Mitochondrial DNA) 151 30
Polycystic Kidney Disease Panel 6 30
Neuropathy Panel 104 30
Skeletal Diseases Panel 151 30
Autoinflammatory Diseases Panel 22 30
Ehlers-Danlos and Cutis Laxa Panel 34 30
Neonatal Endocrinopathies Panel 25 30
Epidermolyisis Bullosa 17 30
Epilepsy Panel -Main Genes 7 30
Epilepsy Panel -Expanded 245 30
Inborn Errors of Metabolism (Treatable) Panel 116 30
Tuberous Sclerosis Panel 2 30
Hemochromatosis Panel 5 30
Hemophilia A and B Panel 2 30
Ichthyosis and Ectodermal Dysplasia Panel 59 30
Primary Immunodeficiencies Panel 60 30
Immunodeficiencies and Immunologic Diseases Panel (Complete) 30
Leukodystrophies Panel 136 30
Cardiomyopathy Panel 52 30
Neurofibromatosis Panel 3 30
Pancreatitis Panel 5 30
Porphyria Panel 8 30
Hereditary Retinopathy Panel 224 30
Noonan Syndrome and Rasopathies Panel 21 30
Hemolytic-Uremic Syndrome Panel 6 30
Nephrotic Syndrome Panel 29 30
Clinically Recognized Syndromes Panel 237 30
Deafness Panel (GJB2 & GJB6) 2 30
Hereditary Deafness Panel (Expanded) 116 30
Thrombophilias Panel 7 30
CHARGE Syndrome Panel 1 30
Marfan Syndrome Panel 1 30
Rett Syndrome Panel 1 30
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