Epileptic Encephalopathy, Early Infantile, 2

Show alternative names & symbols

Disorders	Symbol	MIM	Links
Epileptic Encephalopathy, Early Infantile, 2 Infantile Spasm Syndrome, X-Linked 2 Rett Syndrome, Atypical, Cdkl5-Related Rett Syndrome, Variant, With Infantile Spasms	EIEE2 ISSX2	300672	Genetic Test Registry

Genes	Symbol	MIM	HGNC	Links
cyclin-dependent kinase-like 5 serine/threonine protein kinase 9	CDKL5 CFAP247	300203	11411

Gene dossier	Epileptic Encephalopathy, Early Infantile, 2 Cardiff RGC

Specialties	Clinical Genetics Neurology, Paediatric

1 laboratory offers this test:

Service level	Referral category	Laboratory	Calendar Days	NHS Price
Sequencing of the entire coding region of gene (s) PLUS copy number analysis	Postnatal Diagnosis Routine	Cardiff RGC	40	£500
Testing for known mutations in family members	Prenatal Diagnosis	Cardiff RGC	3	£160
Testing for known mutations in family members	Postnatal Diagnosis Routine	Cardiff RGC	20	£160
Testing for known mutations in family members	Postnatal Diagnosis Urgent	Cardiff RGC	3	£160

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