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Aicardi-Goutieres syndrome is a heritable disorder of the central nervous system, characterized by calcifications of the basal ganglia and white matter, and elevated CSF alpha interferon with no detectable infectious etiology. These patients may present in the neonatal period with a syndrome that mimics in utero viral infections, including coombs positive hemolytic anemia and autoimmune thrombocytopenia, elevated transaminases, microcephaly, seizures, vasculitic skin lesions, and cerebral calcifications. Often, these patients are initially suspected of having a congenital cytomegalus virus, rubella or HIV infection. A genetic cause may be suspected only after the birth of a second affected child. This condition may also present in older infants with progressive microcephaly, dystonia, seizures and developmental delay as well as sterile pyrexias, lupus like skin and joint manifestations, progressive intracranial calcifications, and chronically elevated CSF lymphocytes. Some children diagnosed with Aicardi-Goutieres syndrome may remain clinically stable for long periods of time. Developmental regression associated with painful skin lesions and systemic manifestations, often in an episodic manner, occur in the early years of life, followed in many cases by years of stability. Progressive cerebral atrophy and cerebral calcifications are seen. Many children succumb later in life to medical complications, but children living into their teens and later are known.
779 Other and ill-defined conditions originating in the perinatal period
333 Other extrapyramidal disease and abnormal movement disorders Includes: other forms of extrapyramidal, basal ganglia, or striatopallidal disease Excludes: abnormal movements of head NOS (781.0) sleep related movement disorders (327.51-327.59)
315.9 Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS
Vanderver A et al. Leukodystrophy Overview. 2014 Feb 6. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncbi.nlm.nih.gov/books/NBK184570/.
Bonkowsky et al. (2010) Neurology 75 (8):718-25 (PMID: 20660364)
Heim P, Claussen M, Hoffmann B, Conzelmann E, Gärtner J, Harzer K, Hunneman DH, Köhler W, Kurlemann G, Kohlschütter A. Leukodystrophy incidence in Germany. Am J Med Genet. 1997;71:475–8 (PMID: 9286459).
Zou et al. Whole exome sequencing: an effective and comprehensive genetic testing approach for leukodystrophy [abstract submitted] To be presented at the 2017 ASHG Annual Genetics Meeting, October 17-21, Orlando, FL.