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Spinal muscular atrophy (28-gene panel, NGS)

Code: 10015

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(28 genes)

  • AARS
  • ASAH1
  • ATP7A
  • BICD2
  • BSCL2
  • CHCHD10
  • DCTN1
  • DNAJB2
  • DYNC1H1
  • EXOSC3
  • EXOSC8
  • FBXO38
  • GARS
  • HEXA
  • HSPB1
  • HSPB3
  • HSPB8
  • IGHMBP2
  • LAS1L
  • PLEKHG5
  • REEP1
  • SCO2
  • SLC5A7
  • SMN2
  • TRPV4
  • UBA1
  • VAPB
  • VRK1

Specialties

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