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Atypical Rett Syndrome Genetic Testing
Short Description : Developmental and epileptic encephalopathy-2 , CDKL5 Deficiency disorder
Also known as : [CDKL5 Deficiency Disorder],[DEE-2],[Developmental and epileptic encephalopathy-2],[Rett Syndrome -Atypical],[Rett Syndrome Variant with Infantile Spasms]
DNA/RNA
Test performed by: LabPLUS - Dept. Diagnostic Genetics - Molecular Genetics
Referral Requirements:
Important Note:
Diagnostic referrals only accepted from Neurology and Genetic Services.
Predictive referrals only accepted from Genetic Services.
Genetic Health Service NZ can be contacted on 0800 476 123.
Specimen Collection
8 mL Adult EDTA Blood
4 mL Paediatric EDTA Blood
NOTE:
A minimum of 0.5ml can be processed. However, sufficient DNA for downstream testing cannot be guaranteed if less than 4.0ml blood is collected.
Transport all bloods at room temperature within 24-48 hours. If necessary specimens can be refrigerated overnight for transport at room temperature the following day.
For testing of other sample types please contact the laboratory prior to sending.
Turnaround Time: 13 weeks
Contact Information
To contact the Molecular Genetics team:
Background Information
Developmental and epileptic encephalopathy-2 (DEE-2) is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in impaired intellectual development and poor motor control (OMIM 300672). There is some phenotypic overlap with Rett syndrome (OMIM 312750). However DEE-2 is considered a distinct entity and is caused by mutations in the CDKL5 gene on chromosome Xp22 (OMIM 300203, GeneReviews NBK1497).
Molecular genetic testing is available for CDKL5 gene
For more information about the Molecular Genetics service:
Molecular Genetics information page
Last updated at 15:45:21 07/03/2024