A Test in Focus
Autoimmune encephalitis and myelitis is increasingly recognized as a cause of CNS disease in children and teens. Andrew McKeon, M.B., B.Ch., M.D, gives an overview of this test available through Mayo Clinic Laboratories. He discusses when this testing should be ordered, how this testing compares to other testing approaches, and what clinical action can be taken due to the results of this testing.
David Viswanatha, M.D., a hematopathologist and co-director of the molecular hematology and complete genome sequencing laboratories at Mayo Clinic, provides an overview of BCR/ABL1 testing, discusses the best testing methods, NCCN/ELN criteria guidelines, why FISH testing is no longer routinely available at Mayo Clinic, and what test to order at what time for CML patients.
Targeted cancer therapies are defined as antibody or small molecule drugs that block the growth and spread of cancer by interfering with specific cell molecules involved in tumor growth and progression. Multiple targeted therapies have been approved by the US Food and Drug Administration (FDA) for treatment of specific cancers. Molecular genetic profiling is often needed to identify targets amenable to targeted therapies and to minimize treatment costs and therapy-associated risks.
Patients with autoimmune myelopathy present with subacute onset and rapid progression of spinal cord symptoms (weakness, gait difficulties, loss of sensation, neuropathic pain, and bowel and bladder dysfunction). Autoimmune myelopathy evaluation of serum and spinal fluid can assist in the diagnosis and aid distinction from other causes of myelopathy (multiple sclerosis, sarcoidosis, and vascular disease). Early diagnosis may assist in diagnosis of occult cancer, prompt initiation of immune therapies, or both.
The diagnosis of mitochondrial disease can be particularly challenging as the presentation can occur at any age, involve virtually any organ system, and be associated with widely varying severities. Due to the considerable overlap in the clinical phenotypes of various mitochondrial disorders, it is often difficult to distinguish these specific inherited disorders without genetic testing.