• Test Code:
  • Department:
    Molecular Genetics
  • Test Synonyms:
    Dystonic featuresADARAFG3L2AP1S2APTXARSAARXATMATP13A2ATP1A2ATP1A3ATP7BAUHC19orf12CACNA1ACHMP2BCPCYP27A1DCAF17DDCDLATDRD2DRD5EARS2 ERCC6FA2HFASTKD2FBXO7FOXG1FOXRED1GAMTGCDHGCH1HPRT1KCNQ2L2HGDHMAT1AMCOLN1MMADHCMPV17MR1NPC2PANK2PARK2PDHXPINK1PLA2G6PLP1PNKDPRRT2PSEN1PTENPTS QDPRRNASEH2ARNASEH2BRNASEH2CSAMHD1SCP2SDHAF1SGCESLC19A3SLC20A2SLC2A1SLC46A1SLC6A3SPRSUCLA2SUOXTAF1THTHAP1TIMM8ATOR1ATPK1TREM2TREX1VPS13AWDR45
  • CPT Code(s):
    Contact KDL for billing information
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

For detailed information and ordering instructions, please refer to Full Gene Analysis (1240). Genes may be added or removed from the list below if clinically indicated.

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

Methodology:

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References:

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

Additional Info: