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Meckel syndrome (13-gene panel, NGS)

Code: 11121

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(13 genes)

  • B9D1
  • B9D2
  • CC2D2A
  • CEP290
  • KIF14
  • MKS1
  • NPHP3
  • RPGRIP1L
  • TCTN2
  • TMEM107
  • TMEM216
  • TMEM231
  • TMEM67

Specialties

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