Genomic Unity® Movement Disorders Analysis
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:
Ataxias - a group of neurological conditions related to degeneration of the cerebellum, the area of the brain responsible for coordinating movement
Dystonias - a group of neurological conditions related to involuntary contraction of the muscles which causes repetitive or twisting movements
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® Exome Plus 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
Huntington-related STR analysis (requires special consent): HTT, JPH3
Reflex to Genomic Unity® Exome Plus 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
SNVs and Indels up to 50bp
99.6% positive predictive value
96% clinical sensitivity
Short tandem repeats:
Full mutation tandem repeats, and in some cases intermediate and/or premutation repeats, are reported with the number of repeats. All reported tandem repeat expansions are confirmed by an orthogonal technology.
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)
Huntington disease like 2
Infantile onset ascending spastic paraplegia
Idiopathic torsion dystonia of mixed type
Mitochondrial recessive ataxia syndrome
Parkinson’s disease, Parkinsonism
Posterior column ataxia with retinitis pigmentosa
Primary torsion dystonia
Tyrosine hydroxylase deficiency
81177x1, 81178x1, 81179x1, 81180x1, 81181x1, 81182x1, 81183x1, 81184x1, 81185x1, 81188x1, 81284x1, 81343x1, 81344x1, 81404x8, 81405x14, 81406x18, 81407x5, 81408x4, (81271x1)
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 6-8 weeks from sample receipt.