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Cardiomyopathy, structural heart defects (44-gene panel, NGS)

Code: 10427

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(43 genes)

  • ABCC9
  • ACTC1
  • ACTN2
  • AMPD1
  • CSRP3
  • CTF1
  • DES
  • DMD
  • DMPK
  • DSC2
  • DSG2
  • DSP
  • DTNA
  • EMD
  • EYA4
  • GLA
  • JUP
  • LAMP2
  • LDB3
  • LMNA
  • LMX1B
  • MYBPC3
  • MYH6
  • MYH7
  • MYL2
  • MYL3
  • PKP2
  • PLN
  • PMP22
  • PRKAG2
  • RYR2
  • SCN5A
  • SGCD
  • TAZ
  • TCAP
  • TMEM43
  • TPM1
  • TNNC1
  • TNNT2
  • TNNI3
  • TTN
  • TTR
  • VCL

Specialties

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