Indication
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis
X-linked sideroblastic anemia and ataxia is a rare condition characterized by a blood disorder called sideroblastic anemia and movement problems known as ataxia. This condition occurs only in males.\n\nSideroblastic anemia results when developing red blood cells called erythroblasts do not make enough hemoglobin, which is the protein that carries oxygen in the blood. People with X-linked sideroblastic anemia and ataxia have mature red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglobin. This disorder also leads to an abnormal accumulation of iron in red blood cells. The iron-loaded erythroblasts, which are present in bone marrow, are called ring sideroblasts. These abnormal cells give the condition its name. Unlike other forms of sideroblastic anemia, X-linked sideroblastic anemia and ataxia does not cause a potentially dangerous buildup of iron in the body. The anemia is typically mild and usually does not cause any symptoms.\n\nX-linked sideroblastic anemia and ataxia causes problems with balance and coordination that appear early in life. The ataxia primarily affects the trunk, making it difficult to sit, stand, and walk unassisted. In addition to ataxia, people with this condition often have trouble coordinating movements that involve judging distance or scale (dysmetria) and find it difficult to make rapid, alternating movements (dysdiadochokinesis). Mild speech difficulties (dysarthria), tremor, and abnormal eye movements have also been reported in some affected individuals. [from MedlinePlus Genetics]
- Sideroblastic anemia
- Clonus
- Dysarthria
- Babinski sign
- Hyperreflexia
- Dysmetria
- Dysdiadochokinesis
- Hypochromic microcytic anemia
- Nonprogressive cerebellar ataxia
- Abnormality of metabolism/homeostasis
- Intention tremor
Show allThe Invitae Bone Marrow Failure Syndromes Panel analyzes genes that are associated with bone marrow failure (BMF), a condition in which the body is unable to produce enough healthy blood cells. The genetic heterogeneity associated with BMF syndromes can make it difficult to use phenotype as the sole criterion to select a definitive cause. These genes were curated based on the available evidence to date in order to provide analysis for BMF. Given the clinical overlap of BMF syndromes, broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication. Genetic testing of these genes may help confirm a clinical diagnosis, predict disease prognosis and progression, facilitate early detection of symptoms, inform family planning and genetic counseling, or promote enrollment in clinical trials. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations. If the patient has undergone an allogeneic bone marrow or stem cell transplant prior to genetic testing or currently has a hematological condition with actively circulating tumor cells, testing a sample type that is not derived from blood (such as cultured fibroblasts from a skin biopsy) is warranted. Please see the Specimen Requirements page for details. If you have additional questions regarding specimen selection, please contact our Clinical team at (800) 436-3037.
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