In collaboration with Prof. Dr. Thomas Gasser, University of Tübingen, Germany, CeGaT has developed a Dystonia Panel for simultaneously analyzing all known genes associated with Dystonia.
The sequencing of the genes mentioned below is performed on the SOLiD platforms via next generation sequencing. The obtained data are analyzed based on the particular request. All variants being found are validated on the capillary sequencer.
For diagnostic purposes and based on the particular phenotype the whole Dystonia Panel (consisting of the four sub-panels) or each of the below described sub-panels can be ordered. The price depends on the number of genes ordered and will be gladly provided upon request. A deletion analysis can be requested separately.
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Sub-Panel 1: Primary Torsion Dystonias:
- TOR1A
- THAP1
Sub-Panel 2: Dystonia Plus Syndromes:
- GCH1 (DYT5)
- TH
- SGCE (DYT11)
- SPR
- ATP1A3 (DYT12)
- PRKRA (DYT16)
Sub-Panel 3: Paroxysmal Dyskinesias:
- MR1
- PRRT2
- GLUT1 (DYT18)
Sub-Panel 4: Heredodegenerative Syndromes:
- ATM
- VPS13A
- CLN3
- TIMM8A
- ARSA
- FTL
- NPC1
- NPC2
- PLA2G6
- PARKIN
- DJ1
- PANK2
- HEXA
- ATP7B
- GCDH
- MECP2
We also do gene testing of single genes - please send a request at info {at} cegat.de. Further information can be found in the section Molecular Diagnostics.
