|
Variant Rett Syndrome | Early infantile epileptic encephalopathy (sequence analysis of CDKL5 gene)
CDKL5
|
Request Now |
Specimen Requirements
| Descriptive |
Volume / Concentration 1 |
Container |
Transport temperature |
Sample viability (days) 2 |
|---|---|---|---|---|
| DNA | ≥ 100 µL [50 ng/µL] | Eppendorf Safe-lock | Room temp. | n/a |
| Peripheral blood | ≥ 3 mL | EDTA | Room temp. | 5 |
1
When it is not possible to collect the minimum volume for the test, please contact CGC Genetics
2
Maximum shipping time to ensure sample quality
Turnaround Time (Days)
- 60
CPT Codes
- 81406
Specialties
- Rare diseases, Neurology / Neuropediatrics, Pediatrics
CGC Reference
- 307
Associated Tests
West syndrome (sequence analysis of CDKL5 gene)
Rett syndrome, atypical | Early infantile epileptic encephalopathy (deletion/duplication analysis on CDKL5 gene)
Rett and Rett-like syndrome (NGS panel for 8 genes)
Autism (WES based NGS panel for 156 genes, including CNV analysis)
Epileptic encephalopathy (WES based NGS panel for 137 genes, including CNV analysis)