MOLECULAR STUDY GEN CDKL5, SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4368

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	30 days
Information:
Mutations in the CDKL5 gene cause the early-onset seizure variant of Rett syndrome(Hanefeld variant), an atypical form of Rett syndrome. This severe form of the disorder includes many of the features of classic Rett syndrome (including developmental problems, loss of language skills, and repeated hand wringing or hand washing movements), but also causes recurrent seizures beginning in infancy (in the first months of life with subsequent development of RTT features). Mutations in the CDKL5 gene can also cause a disorder known as X-linked infantile spasm syndrome. Like the early-onset seizure variant of Rett syndrome, X-linked infantile spasm syndrome is characterized by recurrent seizures called infantile spasms that begin in the first year of life. Children with this condition also have intellectual disability. X-linked infantile spasm syndrome caused by CDKL5 gene mutations occurs more often in females, but it has been identified in a small number of males.
Links:
OMIM Entry - # 300672 - EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE2
Orphanet- Atypical Rett syndrome
CDKL5 - cyclin-dependent kinase-like 5 - Genetics Home Reference
OMIM Entry - - 300203 - CYCLIN-DEPENDENT KINASE-LIKE 5; CDKL5

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