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Muscular dystrophies (42-gene panel, NGS)

Code: 10011

The availability and turnaround time of this test should be confirmed with the unit before collection.

Method
Next-generation sequencing (NGS)
Collection requirements
EDTA: Blood (10 mL)
Sample stability
Refrigerated at 2-8 °C
Turnaround time
33 working days
Preparation and notes
IMPORTANT: Samples for this test should only be collected Monday to Thursday and never on the day before a public holiday. Clinical history and family history are mandatory.

Genes tested(42 genes)

  • ANO5
  • BVES
  • CAPN3
  • CAV3
  • COL12A1
  • COL6A1
  • COL6A2
  • COL6A3
  • DAG1
  • DES
  • DMD
  • DNAJB6
  • DYSF
  • EMD
  • FHL1
  • FKRP
  • FKTN
  • FLNC
  • GAA
  • GMPPB
  • HNRNPDL
  • ISPD
  • LIMS2
  • LMNA
  • MYOT
  • PLEC
  • PNPLA2
  • POGLUT1
  • POMGNT1
  • POMT1
  • POMT2
  • SGCA
  • SGCB
  • SGCD
  • SGCG
  • SMCHD1
  • TCAP
  • TNPO3
  • TOR1AIP1
  • TRAPPC11
  • TRIM32
  • TTN

Specialties

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