• Test Code:
    2055
  • Department:
  • Test Synonyms:
    DystoniaParkinsonsADARAFG3L2AP1S2APTXARSAARXATMATP13A2ATP1A2ATP1A3ATP7BAUHC19orf12CACNA1ACHMP2BCPCSF1RCYP27A1DCAF17DCTN1DDCDLATDRD2DRD5EARS2ERCC6FA2HFASTKD2FBXO7FOXG1FOXRED1 FTLFUCA1GAMTGBAGCDHGCH1HPRT1KCNQ2KIF1AL2HGDHLRRK2MAPTMAT1AMCOLN1MMADHCMPV17MR1NPC2PANK2PARK2PARK7PDHXPINK1PLA2G6PLP1PNKDPOLGPRRT2PSEN1PTENPTS QDPRRNASEH2ARNASEH2BRNASEH2CSAMHD1SCP2SDHAF1SGCESLC19A3SLC20A2SLC2A1SLC46A1SLC6A3SNCASPRSQSTM1SUCLA2SUOXTAF1THTHAP1TIMM8ATOR1ATPK1TREM2TREX1TRIM32VPS35WDR45VPS13A
  • CPT Code(s):
    81321 – PTEN81404x581405x881406x138140781408x281479x62********************************New Codes as of 01/.01/.2019*************************811858132181404x581405x881406x1381408x281479x62
Background:

Movement disorders are a group of neurological conditions which includes ataxia, dystonia, and seizures. Clinical symptoms may manifest in early childhood and into as an adult. Phenotypes in this group of disorders are involuntary muscle movements and muscle contractions. This can vary in spectrum from subtle repetitive movements, worsening hand control, abnormal posture, gait disturbance and seizures. These effects may also cause sleep disorders, depression and mental stress. Many of these conditions follow an autosomal recessive pattern but also be X-linked or autosomal dominant with variable penetrance. This next-generation sequencing test assesses the coding regions of 92 genes associated with movement disorders.

Reasons for Referral:

  • Clinical symptoms of ataxia, dystonia, seizures or other involuntary muscle movements.
  • Carrier testing
  • Positive family history

Methodology:

Next generation sequencing will analyze the exons or coding regions of 92 Movement Disorder-associated genes using Illumina NextSeq 500 technology.  Samples are prepared using hybridization probes to enrich exonic regions.  Promoter, intronic, etc. regions are not assessed on our assay, but may contain variants that impact gene function.  Additionally, the assay does not assess coding regions with incomplete coverage some of which including regions of high homology (pseudogenes), regions of high GC content and polynucleotide repeats.

Coding region coverage for the Movement Disorder panel genes

Gene Name

Coverage

ADAR, AFG3L2, AP1S2, APTX, ARSA, ATM, ATP13A2, ATP1A2, ATP1A3, ATP7B, C19orf12, CHMP2B, CP, CSF1R, CYP27A1, DCTN1, DDC, DLAT, DRD2, DRD5, EARS2, ERCC6, FASTKD2, FBXO7, FOXRED1, FTL, FUCA1, GBA, GCDH, HPRT1, KCNQ2, KIF1A, L2HGDH, LRRK2, MAPT, MAT1A, MCOLN1, MMADHC, MPV17, MR1, NPC2, PARK2, PARK7, PDHX, PLA2G6, PLP1, PNKD, POLG, PRRT2, PSEN1, PTEN, PTS, QDPR, RNASEH2A, SAMHD1, SCP2, SGCE, SLC19A3, SLC20A2, SLC2A1, SLC46A1, SLC6A3, SNCA, SUCLA2, SUOX, TAF1, TH, THAP1, TIMM8A, TOR1A, TPK1, TREM2, TREX1, TRIM32, VPS13A, VPS35, WDR45

95%-100%

AUH, CACNA1A, DCAF17, RNASEH2B, RNASEH2C, SQSTM1

90%-95%

FA2H, FOXG1, GAMT, GCH1, PANK2, PINK1

75%-90%

ARX*, SDHAF1, SPR

40%-75%

Coding regions below 95% may be covered upon request if further assessment of a gene is necessary (some exceptions may apply). Please contact Knight Diagnostic Laboratories for more information.

*ARX gene complete coverage and expansions in the polyalanine tract not available.

Related Tests: Knight Diagnostic Laboratories also offers smaller, focused panels:

Specimen Requirements:

  • Blood:  EDTA or ACD (Solution A or B):
    • Adult: 5 mL
    • Child: 5 mL
    • Infant: 2-3 mL

  • Saliva: 1 ORAgene Saliva Kit (OGR-500)
  • Skin Fibroblast: Punch Biopsy, or 2 T-25 confluent flasks
  • DNA: 1-2µg 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:

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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