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Disease Name: CAMRQ syndrome

Genes Covered:

ABCB7, ABHD12, ADCK3, AFG3L2, ANO10, APTX, ATCAY, ATM, ATP13A2, ATP1A3, ATP8A2, C10orf2, CA8, CACNA1A, CACNA1G, CACNB4, CAMTA1, CC2D2A, CCDC88C, CISD2, CLCN2, CLN5, CLN6, CLN8, COQ2, COQ4, COQ6, COQ9, COX10, COX6B1, CSTB, CTSD, CYP27A1, DARS2, DNAJC19, DNAJC5, DNMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, EPM2A, FASTKD2, FGF14, FLVCR1, FMR1, FXN, GJB1, GOSR2, GPR56, GRM1, GRN, IFRD1, IFT140, ITM2B, ITPR1, KCNA1, KCND3, KCNJ10, KCTD7, KIAA0226, LMNB2, MARS2, MECP2, MFSD8, MME, MRE11A, MTPAP, NBN, NDUFS7, NHLRC1, NKX2-1, NPC1, NPC2, NUBPL, OPA1, PAX6, PC, PDHA1, PDSS1, PDSS2, PDYN, PEX10, PEX16, PEX2, PEX7, PHYH, PIK3R5, PLEKHG4, PMM2, PNKP, PNPLA6, POLG, POLR3A, POLR3B, PPT1, PRF1, PRICKLE1, PRKCG, PRPS1, PRX, PSEN1, RNF170, RPGRIP1L, SACS, SCARB2, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SETX, SIL1, SLC1A3, SLC2A1, SLC9A6, SPTBN2, SQSTM1, SRD5A3, SYNE1, SYT14, TACO1, TDP1, TGM6, TMEM67, TPP1, TRPC3, TTBK2, TTC19, TTPA, VLDLR, WDR81, WFS1, WWOX, ZNF592
Test Details Pricing

Panel: Strand Neuromuscular Disorders Test

Disorder Category: Ataxia

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

Special Remarks: Spinocerebellar ataxia caused due to repeat expansions in the gene, are not covered in this panel.

On request