The current gold standard for diagnosis is DNA sequence analysis, which can detect WAS and the related disorders XLT and XLN in 95% of patients and carriers. Classification
Jin et al. (2004) employ a numerical grading of severity: This score, which ranges from 0 to 5, may have clinical utility for predicting disease severity. Those with higher WAS scores (e.g., 5) at younger ages (e.g., age less than 5 years old), are thought to be at highest risk for increased morbidity and mortality related to their condition. As individuals can develop more WAS-related symptoms (e.g. autoimmune disease, malignancy) with age, ones WAS score can increase over time. A lower WAS score may be more compatible with conservative management versus higher WAS scores that may favor intervention with treatments such as hematopoietic stem cell transplant. Treatment
Hematopoietic stem cell transplant
Treatment of Wiskott–Aldrich syndrome depends on the severity of the disease. WAS is primarily a disorder of the blood-forming tissues, so in cases of severe disease (WAS score 3–5) the only widely available curative treatment currently available is a hematopoietic stem cell transplant (HCT). In this procedure stem cells are harvested from umbilical cord blood, bone marrow, or peripheral blood following treatment with medications that cause stem cells to leave the bone marrow and circulate systemically. The best outcomes are with HLA-identical or similar donors (often siblings).
Diagnosis
Emanuel syndrome can be diagnosed with a karyotype, fluorescence in situ hybridization or a chromosomal microarray analysis. Treatment
Emanuel syndrome has no known cure, but individual symptoms may be treated. Assessments of individual systems, such as the cardiovascular, gastrointestinal, orthopedic, and neurological, may be necessary to determine the extent of impairment and options for treatment. See also
The small supernumerary marker chromosome in the Emanuel syndrome

References
Further reading
"Chromosome 11". Genetics Home Reference. U.S. National Library of Medicine. 2016. == External links ==