NUCLEAR DNA ANALYSIS

Supervisor:
Dr. L.P. van den Heuvel
Laboratory of Pediatrics and Neurology
Tel:  +31 24 3617983          
E-mail: B.vandenHeuvel@cukz.umcn.nl

Technical assistance:
Roel Smeets
Edwin Kaauwen

Secretary:
Conny de Haas-Martens
Patricia Lochtenberg
Tel:  +31 24 3614428          

General information:
The facility is part of the Laboratory of Genetic, Metabolic and Endocrine Disorders.

Laboratory tests:
The NCMD offers DNA diagnostics for nuclear encoded subunits of complex I(NDUFS1,NDUFS2, NDUFS4, NDUFS7, NDUFS8, and NDUFV1), complex II (SDHA and SDHB subunit),complex III (BCS1) and complex IV ( SURF-1, SCO1, SCO2 and COX10) of the OXPHOS system as well as for E1alpha and E3 of the pyruvate dehydrogenase complex, ANT1 and CPT II. Mutation detection is performed on RNA level (Complex I and II) or, in case the gene structure is known, on genomic DNA level (SURF-1,SCO1,SCO2,COX10 PDHc E1alpha, E3 and CPT II). For mitochondrial DNA analysis please see under the specific heading.

Shipping and Handling samples:
For DNA diagnostics on genomic DNA level the blood (5-10 ml) has to be collected in plastic EDTA-tubes. The sample can be sent to the NCMD by regular post at room temperature. A courier company should be used for long distance shipment. For complex diagnostic questions please contact us before sending the samples. For DNA diagnostics on RNA level heparin blood (at least 10 ml) has to be collected in plastic tubes. Please send the sample on ice within 24 hours by express post to our center. In case cell lines (tested and found free of mycoplasma contamination before shipment) are available we prefer them for the analyses. For prenatal diagnostics separate appointments have to be made before sending the material. For prenatal diagnostics 30 mg chorionic villi have to be collected as well as EDTA blood (plastic tube) of the mother.

Reporting of results:
Postnatal DNA diagnostics will be finished within 6 months and the final report will be sent at the moment the diagnosis is established. The final report of the prenatal diagnosis will be sent within a maximum time period of 3 weeks.

Billing:
In accordance with the Dutch regulations for DNA diagnostics.
For details please contact our secretary.