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Custom Dystonia Panel

Custom Dystonia Panel

What is dystonia?

Dystonia is a movement disorder that causes involuntary muscle contractions. These contractions result in twisting and repetitive movements. Dystonia can affect just one muscle, a group of muscles or all muscles of patients. Symptoms can include tremors, voice problems or a dragging foot. Dystonia often start in childhood, but can also start in the late teens or early adulthood. In some cases, dystonia can worsen over time. Researchers believe that dystonia may be due to problems in the part of the brain that handles messages about muscle contractions. There is no cure till now.

Disease-related gene description

There are 25 different genes related to dystonia been found They can be divided into two types: the isolated dystonia gene and the combined dystonia gene. TOR1A, THAP1 and GNAL are typical isolated dystonia genes. ATPases encoded by TOR1A are associated with a variety of cellular activities, and considered to function as molecular chaperons. The mutations of 904-906 GAG cause the disability of the ATPases, and are mainly caused by early-onset generalized dystonia. The THAP1 gene has about 100 different mutations that cause transcription factor failure. GNAL has about 30 different mutations which can cause signal transduction disorder and lead to segmental dystonia in adults. Typical combined dystonia genes like GCH1, ATP1A3 and SGCE also cause different kinds of dystonia in different ways. Rate-limiting enzyme encoded by GCH1 works in the biosynthesis of tetrahydrobiopterin. The study found more than 100 different mutations in GCH1 cause dopa-responsive dystonia. ATP1A3 is catalytic subunit of an ionic pump. Mutations in ATP1A3 lead to the occurrence of rapid-onset dystonia-parkinsonism. SGCE has been found about 80 different mutations, which can stop its functions of transmembrane protein and perhaps these mutations affect other functions we have never known. Latest research has found some new genes that have strong relationship with dystonia, like KMY2B and VAC14.

Custom dystonia panel offers but are not limited to:

  • Targeted sequencing technology by Illumina MiSeq/Ion PGM system provides ultra-deep sequencing to target specific genomic regions.
  • Only sequencing the customizable dystonia gene panel meets your requirements, increases throughput and saves costs.
  • Strict quality control throughout the pipeline workflow ensures the accuracy and repeatability of the sequencing.
  • Every detected genetic variant will be further validated to ensure the validity of results.
  • Our database is updated with the research progress of the genes related to dystonia, and you can order your own panel with the genes in our database to meet your specific need.
  • You can choose the panel content from our dystonia gene library or present your needs, then we can provide you with your own panel.

Choose the genes that suit you from the dystonia gene list.

ANO3 ATP1A3 ATP7B CIZ1
DRD2 GCH1 GNAL HEXA
HPCA KCTD17 KMT2B PNKD
PRKN PRKRA PRRT2 SGCE
SLC2A1 SLC6A3 SPR TH
THAP1 TOR1A TOR1AIP1 TUBB4A
VAC14

Specimen requirements of our custom dystonia panel

  • Specimen: blood, saliva or extracted DNA (we do not accept DNA samples isolated from FFPE tissue).
  • Volume: 2-5 mL blood, 2 mL saliva, 3ug DNA.
  • Collection: blood is collected by routine blood collection and saliva is collected by saliva collection kits (kits are available upon request). DNA samples are stored in TE buffer or equivalent.
  • Container: lavender-top (EDTA) tube or yellow-top (ACD) tube.
  • Storage/transport temperature: room temperature.

Gene panel workflow

Gene panel workflow

For more information about the Custom Dystonia Panel or need other amplification requirements, please contact us.

References:

  1. lohmann K, et al. Update on the Genetics of Dystonia. Current Neurology and Neuroscience Reports, 2017: 17(3): 26-27
  2. Klein C, et al. Dystonia: clinical features, genetics, and treatment. Current Opinion in Neurology, 2002, 15(4): 491-497
  3. Blaint B, et al. Dystonia: An update on phenomenology, classification, pathogenesis and treatment. Current Opinion in Neurology, 2014, 27(4): doi 10.1097
  4. Brashear A, et al. The phenotypic spectrum of rapid-onset dystonia-parkinsonism(RDP) and mutations in the ATP1A3 gene. Brain, 2007, 130(3): 828-835
  5. A Grünewald, et al. Myoclonus-dystonia: significance of large SGCE deletions. Human Mutation, 2008, 29(2): 331-332
* For Research Use Only. Not for use in diagnostic procedures.

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