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Disease Name: Paramyotonia congenital

Genes Covered:

ANO5, ASAH1, ASCC1, ATP7A, B3GNT1, BAG3, BIN1, BSCL2, CAPN3, CAV3, CHKB, CLCN1, COL12A1, COL6A1, COL6A2, COL6A3, COQ2, DAG1, DES, DMD, DNAJB2, DNAJB6, DPM1, DPM3, DYNC1H1, DYSF, EMD, FHL1, FKRP, FKTN, GAA, GARS, GJB1, HSPB8, IGHMBP2, ISPD, ITGA7, LAMA2, LAMP2, LARGE, LMNA, MPZ, MYH7, MYOT, PABPN1, PHKA1, PLEC, PLEKHG5, POMGNT1, POMGNT2, POMT1, POMT2, PSMB8, PYGM, REEP1, SCN4A, SEPN1, SGCA, SGCB, SGCD, SGCG, SIGMAR1, SLC16A2, SLC52A3, SLC5A7, SNCA, SYNE1, SYNE2, TCAP, TMEM43, TRIM32, TRPV4, TTN, UBA1, VAPB, VRK1
Test Details Pricing
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Panel: Strand Neuromuscular Disorders Test

Disorder Category: Muscular dystrophy

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