Genomic Unity® Movement Disorders Analysis

NR006

Movement disorders are a group of neurological conditions characterized by increased voluntary or involuntary movement or by decreased voluntary movement.

Genomic Unity® Movement Disorders Analysis is an effective test for the genetic cause of abnormal movement in patients with suspected diagnoses included within the following groups:

As well as suspected diagnoses of Parkinsons, Parkinsonism, Tyrosine hydroxylase deficiency and choreas including Hungtington disease and Huntington-like diseases.

Order this test when the patient presents with symptoms of impaired movement including ataxia, imbalance, gait disturbance, spasms and tremors and you'd like the option to reflex up to Genomic Unity® Whole Genome Analysis.

  • Sequencing analysis of movement disorder associated genes
  • Del/dup analysis of movement disorder associated genes
  • Adult-onset movement disorder (with or without cognitive involvement) STR analysis: ATN1, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, CACNA1A, FXN, NOP56, NOTCH2NLC, PPP2R2B, TBP

Optionally includes:

  • Huntington-related STR analysis (requires special consent): HTT, JPH3
  • Reflex to Genomic Unity® Whole Genome Analysis or Genomic Unity® Exome Analysis

ABCB7, ABHD12, ABHD5, ACO2, ADAR, ADCY5, AFG3L2, AHI1, ALDH5A1, ANO10, ANO3, APTX, ARL13B, ARL6, ARSA, ATCAY, ATM, ATN1, ATP13A2, ATP1A3, ATP2B3, ATP7B, ATP8A2, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BEAN1, CA8, CACNA1A, CACNA1B, CACNA1G, CACNB4, CAMTA1, CAPN1, CASK, CC2D2A, CCDC88C, CEP290, CEP41, CIZ1, CLCN2, CLN5, CLPP, COASY, COL6A3, COQ8A, COX20, CP, CPLANE1, CWF19L1, CYP27A1, CYP2U1, DCAF17, DDC, DLAT, DNAJC19, DNAJC6, DNMT1, EBF3, EEF2, ELOVL4, ELOVL5, FA2H, FBXL4, FBXO7, FGF14, FLVCR1, FTL, FXN, GBA2, GCDH, GCH1, GFAP, GLRA1, GNAO (GNOA1), GOSR2, GRID2, GRM1, GSS, HARS2, HEXA, HIBCH, HPCA, INPP5E, ITM2B, ITPR1, KCNA1, KCNC3, KCND3, KCNJ1, KCNMA1, KCTD17, KIF1C, KIF7, KMT2B, LAMA1, LARS2, LMNB1, LRPPRC, LRRK2, MAPT, MARS2, MECR, MKKS, MKS1, MME, MRE11, MTFMT, MTPAP, MTTP, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NKX2-1, NOL3, NPC1, NPC2, NPHP1, NUBPL, OFD1, OPA1, OPHN1, PANK2, PARK7, PDGFB, PDGFRB, PDYN, PEX7, PEX10, PHYH, PINK1, PLA2G6, PNKD, PNKP, PNPLA6, POLG, POLR3A, POLR3B, PPP2R2B, PRKCG, PRKN, PRKRA, PRRT2, RELN, RNF216, RPGRIP1L, RUBCN, SACS, SCN2A, SCP2, SERAC1, SETX, SGCE, SIL1, SLC16A2, SLC19A3, SLC1A3, SLC20A2, SLC25A46, SLC2A1, SLC30A10, SLC52A2, SLC6A3, SLC9A6, SNCA, SNX14, SPG7, SPR, SPTBN2, STUB1, SYNE1, SYNJ1, SYT14, TAF1, TBP, TCTN1, TCTN2, TCTN3, TDP1, TGM6, TH, THAP1, TIMM8A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM240, TMEM67, TOR1A, TOR1AIP1, TPK1, TPP1, TRAPPC11, TRIM32, TTBK2, TTC19, TTC8, TTPA, TUBB4A, TWNK, UBA5, VAMP1, VLDLR, VPS13A, VPS35, WDPCP, WDR45, WDR81, WFS1, WWOX, XPR1, ZFYVE26, ZNF423

 

Disorders that can be tested for include:

Ataxia with oculomotor apraxia
Ataxia with vitamin E deficiency
Ataxia-Telangiectasia, Ataxia-Telangiectasia-like disorder
Coenzyme Q10 deficiency
Dentatorubral-pallidoluysian atrophy (DRPLA)
Dopa-responsive dystonia
Episodic ataxia
Friedreich's ataxia
Huntington disease
Huntington disease like 2
Infantile onset ascending spastic paraplegia
Idiopathic torsion dystonia of mixed type
Marinesco-Sjogren syndrome
Mitochondrial recessive ataxia syndrome
Myoclonus-Dystonia
Parkinson’s disease, Parkinsonism
Posterior column ataxia with retinitis pigmentosa
Primary torsion dystonia
Spinocerebellar ataxia
Spastic ataxia
Tyrosine hydroxylase deficiency

SNVs and Indels up to 50bp
99.7% sensitivity
99.6% positive predictive value

Structural variants:
96% clinical sensitivity

Short tandem repeats:
Due to the variable nature of repetitive sequence and sequence specific differences in detection, repeat evaluation and orthogonal confirmation is performed on a case-by-case basis. Reportable pathogenic or intermediate repeat expansions may be reported with or without repeat count.

81443, 81177, 81178, 81179, 81180, 81181, 81182, 81183, 81185, 81286, 81343, 81344, 81403, 81404 x5, 81405 x2, 81406 x2, 81407, 81408 x2, 81479 x3, 81274

The CPT codes provided are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Blood - 5ml
Saliva - contact us for a kit
gDNA - 5μg

Turn around time is 10-12 weeks from sample receipt.

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