Skip to content
Huo-Yan ExpressHuo-Yan Express
← Back to the catalogue

Limb-girdle muscular dystrophy [next-generation sequencing, 54 genes (NGS)]

Code: 3124

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 (5 mL) Note: Clinical history and family history are mandatory.
Sample stability
Refrigerated at 2-8 °C
Turnaround time
48 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.

Genes tested(54 genes)

  • ACADVL
  • ANO5
  • BAG3
  • CAPN3
  • CAV3
  • COL6A1
  • COL6A2
  • COL6A3
  • CPT2
  • CRPPA
  • CRYAB
  • DAG1
  • DES
  • DNAJB6
  • DOK7
  • DYSF
  • EMD
  • FHL1
  • FKRP
  • FKTN
  • FLNC
  • GAA
  • GMPPB
  • GNE
  • HNRNPDL
  • LAMA2
  • LAMP2
  • LMNA
  • LPIN1
  • MTM1
  • MYH7
  • MYOT
  • PLEC
  • POMGNT1
  • POMGNT2
  • POMT1
  • POMT2
  • PYGM
  • RYR1
  • SELENON
  • SGCA
  • SGCB
  • SGCD
  • SGCG
  • STIM1
  • SYNE1
  • SYNE2
  • TCAP
  • TNPO3
  • TRAPPC11
  • TRIM32
  • TTN
  • VCP
  • VMA21

Specialties

Book a collection