Indication | Clinical suspicion of the disease. |
OMIM# | |
Specimen | 7,5 ml blood in EDTA-glass. |
Analysis | Microdeletions analysis on chromosome 17p13.3 with MLPA technique. A normal result of the analysis does not exclude the diagnosis because the disease can also be due to mutations in LIS1 that are not detected with this strategy. Contact the department for further information. |
Delivery | By mail. Monday to Friday. |
Turn around time | 6 weeks. |