![]() This test is not designed to detect low levels of mosaicism or to differentiate between somatic and germline variants. Balanced structural rearrangements (such as translocations and inversions) may not be detected. This analysis targets single and multi-exon deletions/duplications however, in some instances, single exon resolution cannot be achieved due to isolated reduction in sequence coverage or inherent genomic complexity. Deletions-insertions (delins) of 40 or more bp, including mobile element insertions, may be less reliably detected than smaller delins. This test is validated to detect 95% of deletions up to 75 base pairs (bp) and insertions up to 47 bp. Confirmation of select reportable variants will be performed by alternate methodologies based on internal laboratory criteria. There may be regions of genes that cannot be effectively evaluated by sequencing or deletion and duplication analysis as a result of technical limitations of the assay, including regions of homology, high guanine-cytosine (GC) content, and repetitive sequences. If a specific clinical disorder is suspected, evaluation by alternative methods can be considered. Given these limitations, negative results do not rule out the diagnosis of a genetic disorder. The depth of coverage may be variable for some target regions assay performance below the minimum acceptable criteria or for failed regions will be noted. In rare cases, false-negative or false-positive results may occur. ![]() Next-generation sequencing may not detect all types of genomic variants. To discuss the availability of additional testing options or for assistance in the interpretation of these results, contact the Mayo Clinic Laboratories genetic counselors at 80. Detection of a reportable variant in an affected family member would allow for more informative testing of at-risk individuals. If testing was performed because of a clinically significant family history, it is often useful to first test an affected family member. Misinterpretation of results may occur if the information provided is inaccurate or incomplete. Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. CDA is a disorder of ineffective erythropoiesis associated with distinctive bone marrow morphologic changes. This panel also includes multiple genes associated with congenital dyserythropoietic anemia (CDA), types 1a, 1b, 2, 3, and 4. These disorders are important to confirm or exclude as splenectomy has been associated with an increased risk for serious venous thrombosis and thromboembolism events and is contraindicated in published guidelines.(2) It also includes genes associated with RBC enzymopathies, ranging from the common glucose 6-phosphate dehydrogenase and pyruvate kinase deficiencies to the rarer disorders of adenylate kinase, hexokinase, phosphofructokinase, phosphoglycerate kinase, pyruvate kinase, glutathione pathway, and triosephosphate isomerase. Hereditary stomatocytosis is an RBC membrane permeability disorder that can manifest as the more common dehydrated hereditary stomatocytosis, also known as hereditary xerocytosis, and the rarer overhydrated hereditary stomatocytosis subtypes. Specifically, this panel analyzes genes associated with hereditary spherocytosis, hereditary elliptocytosis, hereditary pyropoikilocytosis, Southeast Asian ovalocytosis, hereditary stomatocytosis (both overhydrated and dehydrated/hereditary xerocytosis subtypes), and cryohydrocytosis. This panel can aid in the differential diagnosis of early onset and lifelong myopathic or neurologic syndromes, especially if associated with hemolysis. This panel aids in the diagnosis and treatment for hereditary (congenital) hemolytic anemia.(1,2) The panel includes genes known to cause hereditary anemia, including those implicated in RBC enzyme,(3) RBC membrane/RBC hydration,(4,5) and congenital dyserythropoietic anemia(6) disorders. Hereditary hemolytic anemias are caused by defects in one or more of the genes that control red blood cell (RBC) production, metabolism, or structure, resulting in faulty erythropoiesis, cell membranes, or enzymes required for normal RBC function. The presence and pattern of gene variants can provide critical diagnostic, prognostic, and therapeutic information for managing physicians. Next-generation sequencing is a methodology that can interrogate large regions of genomic DNA in a single assay. ![]() Glucose-6-phosphate-dehydrogenase deficiency Gamma-glutamylcysteine synthetase deficiency Congenital dyserythropoietic anemia type IaĬongenital dyserythropoietic anemia type IbĬongenital dyserythropoietic anemia type IIĬongenital dyserythropoietic anemia type IIIĬongenital dyserythropoietic anemia type IVĬongenital nonspherocytic hemolytic anemia
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