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Disease Name: Paroxysmal kinesigenic dyskinesia

Genes Covered:

ACTB, ADCY5, AFG3L2, ARFGEF2, ARSA, ATM, ATP13A2, ATP1A3, ATP7B, AUH, BCAP31, BCS1L, BTD, C19orf12, CBS, CLN3, CLN5, CLN6, CLN8, COL6A3, COX10, COX15, CP, CTSD, D2HGDH, DCAF17, DNAJC5, DRD2, DRD5, FA2H, FBXO7, FOXRED1, FTL, FUCA1, GALC, GALT, GAMT, GATM, GCDH, GCH1, GLB1, GM2A, GRN, HPRT1, KCTD7, MCEE, MECP2, MFSD8, MMAA, MMAB, MMADHC, MTFMT, MUT, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS1, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NPC1, NPC2, PAH, PANK2, PARK2, PDGFB, PDHX, PINK1, PLA2G6, PLP1, PNKD, POLG, PPT1, PRKRA, PRRT2, PTS, QDPR, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCP2, SDHA, SGCE, SLC19A3, SLC20A2, SLC2A1, SLC30A10, SLC6A19, SLC6A3, SLC6A8, SNCA, SPR, SQSTM1, SUCLA2, SURF1, TAF1, TH, THAP1, TIMM8A, TOR1A, TPP1, TREX1, VPS13A, WDR45, XK
Test Details Pricing

Panel: Strand Neuromuscular Disorders Test

Disorder Category: Dystonia

Turnaround Time: 5-6 weeks from receipt of sample in the lab

Sample Requirement:

  • 1. Blood in EDTA (purple top) tube shipped with ice pack (2-5 ml)
  • 2. Saliva or sputum in collection kit provided by Strand
  • 3. Cheek swab in the collection kit provided by Strand
  • 4. Purified genomic DNA (5-10 μg) in 10 mM Tris buffer (No EDTA)
  • 5. Dry blood spot

On request