We offer comprehensive genetic diagnostics for a number of disorders associated with hereditary cancer susceptibility. These cancer panels cover genes associated with cancer types originating from the gastrointestinal tract, the endocrine and neuroendocrine systems, different organs such as the lungs, kidneys, liver, pancreas, skin, and eyes, gathering the known genetic defects presenting early in childhood.

Genetic diagnostics is the most efficient way to subtype hereditary dermatological diseases, providing the necessary information to make confident individualized treatment and management decisions. Moreover, detection of the causative mutation establishes the mode of inheritance within the family, which is essential for well-informed genetic counseling. Find a test for your patient. 14 diagnostic tests, covering 156 genes.

Blueprint Genetics - Ear Nose and Throat. We offer comprehensive genetic diagnostics for all types of hereditary hearing loss and deafness. These diseases include nonsyndromic hearing loss, as well as syndromes in which hearing loss and deafness present along with defects affecting other parts of the body. Find the right test for your patient. 9 diagnostic tests, covering 161 genes.

Many endocrine disorders may present as part of a syndrome with multiple manifestations. Accurate molecular diagnosis is therefore important for optimizing treatment, and in identifying other manifestations of the syndrome for which the patient should be screened. Find a test for your patient. We use our own proprie.

Find a test for your patient. 7 diagnostic tests, covering 82 genes. Genetic diagnosis is also c.

Accurate genetic diagnosis is necessary to confirm the diagnosis of certain hematological malignancies and to find the optimal treatment for affected patients. Establishing the underlying genetic defect and inheritance pattern further allows family member testing to identify at-risk relatives. Find a test for your patient. 16 diagnostic tests, covering 176 genes.

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. From sample to clinical interpretation. We sequence the DNA in our lab with our proprietary targeted sequencing method OS-Seq , developed at Stanford.

Genetic diagnostics is the most efficient way to subtype malformations, providing the necessary information to make confident individualized treatment and management decisions. Moreover, identifying the causative mutation establishes the mode of inheritance within the family, which is essential for well-informed genetic counseling. Find a test for your patient. 32 diagnostic tests, covering 442 genes.

Genetic diagnostics is the most efficient way to subtype metabolic disorders, providing the necessary information to make confident individualized treatment and management decisions. For example, in coenzyme Q10 deficiency, a correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. Find the test for your patient. 22 diagnostic tests, covering 354 genes.

Blueprint Genetics - Nephrology including ciliopathies. Genetic causes of kidney diseases include a number of single-gene disorders, a variety of chromosomal abnormalities, and many multifactorial disorders. A genetic cause may be suspected from known family history or the simultaneous occurrence of other medical problems, but in many cases disease presentation is unexpected. Find a test for your patient. 23 diagnostic tests, covering 222 genes.