• Test Code:
    1295
  • Department:
  • Test Synonyms:
    Dystonic featuresADARAFG3L2AP1S2APTXARSAARXATMATP13A2ATP1A2ATP1A3ATP7BAUHC19orf12CACNA1ACHMP2BCPCYP27A1DCAF17DDCDLATDRD2DRD5EARS2 ERCC6FA2HFASTKD2FBXO7FOXG1FOXRED1GAMTGCDHGCH1HPRT1KCNQ2L2HGDHMAT1AMCOLN1MMADHCMPV17MR1NPC2PANK2PARK2PDHXPINK1PLA2G6PLP1PNKDPRRT2PSEN1PTENPTS QDPRRNASEH2ARNASEH2BRNASEH2CSAMHD1SCP2SDHAF1SGCESLC19A3SLC20A2SLC2A1SLC46A1SLC6A3SPRSUCLA2SUOXTAF1THTHAP1TIMM8ATOR1ATPK1TREM2TREX1VPS13AWDR45
  • CPT Code(s):
    8132181404x581405x881406x11814078140881479x51****************************New CPT Codes as of 01/01/2019****************************811858132181404x581405x881406x118140881479x51
Background:

Neurological disorders include a large group of conditions with genetic and phenotypic heterogeneity and often have overlapping clinical features, such as intellectual disability, seizures, microcephaly, motor disability, brain malformations (lissencephaly, molar tooth sign), vision loss, speech difficulties, and respiratory failure. Dystonia disorders are neurologic conditions causing involuntary muscle contractions. Any portion of the body can be affected by these contractions and may cause abnormal posturing or uncontrolled movements or tremors. Most conditions are inherited in autosomal dominant manner but can be autosomal recessive or X-linked. This next-generation sequencing test is designed to detect mutations in the coding region of 78 genes associated with Dystonia or syndromes with dystonic features.

Reasons for Referral:

  • Dystonic features and abnormal movements
  • Positive family history
  • Carrier status

Methodology:

Next generation sequencing using Illumina NextSeq 500 technology of the 78 dystonia-associated genes listed below:

Dystonia Panel (78 genes):  ADAR, AFG3L2, AP1S2, APTX, ARSA, ARX, ATM, ATP13A2, ATP1A2, ATP1A3, ATP7B, AUH, C19orf12, CACNA1A, CHMP2B, CP, CYP27A1, DCAF17, DDC, DLAT, DRD2, DRD5, EARS2, ERCC6, FA2H, FASTKD2, FBXO7, FOXG1, FOXRED1, GAMT, GCDH, GCH1, HPRT1, KCNQ2, L2HGDH, MAT1A, MCOLN1, MMADHC, MPV17, MR1, NPC2, PANK2, PARK2, PDHX, PINK1, PLA2G6, PLP1, PNKD, PRRT2, PSEN1, PTEN, PTS, QDPR, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCP2, SDHAF1, SGCE, SLC19A3, SLC20A2, SLC2A1, SLC46A1, SLC6A3, SPR, SUCLA2, SUOX, TAF1, TH, THAP1, TIMM8A, TOR1A, TPK1, TREM2, TREX1, VPS13A, WDR45

Specimen Requirements:

  • Blood: EDTA or ACD (Solution A or B):
    • Adult: 5 mL
    • Child: 5 mL
    • Infant: 2-3 mL
  • Saliva: 2 ORAgene Saliva Kits (OGR-500)
  • Skin Fibroblast: Punch Biopsy, or 2 T-25 confluent flasks
  • DNA: 3-4ug at a minimum of 50-100ng/µL (DNA must be extracted in a CLIA-certified laboratory or a laboratory meeting equivalent requirements as determined by the CAP and/or CMS)
A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):

Weekly

Turn Around Time:

8 weeks

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen. 
  • Ship via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.

References:

  1. Genereviews: Dystonia Overview http://www.ncbi.nlm.nih.gov/books/NBK1155/

Additional Info:

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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