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Disease Name: Central core disease

Genes Covered:

ACADS, ACTA1, AMPD1, ANO5, ATP2A1, BAG3, BIN1, CAV3, CFL2, CHKB, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, COL9A3, CPT2, CRYAB, DES, DNM2, DYSF, FHL1, FKBP14, FLNC, GBE1, GFER, GNE, GYG1, HADHA, HADHB, HRAS, HSPG2, ISCU, ITGA7, KBTBD13, KLHL9, LAMP2, LDB3, LMNA, MATR3, MEGF10, MTAP, MTM1, MTMR14, MYF6, MYH14, MYH2, MYH7, MYO18B, MYOT, MYPN, NEB, OPA1, ORAI1, PABPN1, PGAM2, PNPLA2, PUS1, RRM2B, RYR1, SEPN1, SGCG, SIL1, SLC16A1, SLC5A7, SQSTM1, STIM1, SUCLA2, SUCLG1, TAZ, TK2, TNNT1, TPM2, TPM3, TRIM32, TSFM, TTN, VCP, VMA21, YARS2
Test Details Pricing

Panel: Strand Neuromuscular Disorders Test

Disorder Category: Myopathy

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