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Leukodystrophies (54-gene panel, NGS)

Code: 10007

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(54 genes)

  • ABCD1
  • ACOX1
  • ADGRG1
  • AIMP1
  • ARSA
  • ASPA
  • C19orf12
  • CLCN2
  • CSF1R
  • CTC1
  • DARS
  • DARS2
  • EIF2B1
  • EIF2B2
  • EIF2B3
  • EIF2B4
  • EIF2B5
  • ERCC6
  • ERCC8
  • FA2H
  • FAM126A
  • FUCA1
  • GALC
  • GFAP
  • GJA1
  • GJC2
  • HEPACAM
  • HSPD1
  • IFIH1
  • L1CAM
  • L2HGDH
  • LMNB1
  • MLC1
  • MPLKIP
  • PANK2
  • PEX1
  • PEX10
  • PLA2G6
  • PLP1
  • POLR3A
  • POLR3B
  • PSAP
  • RANBP2
  • RARS
  • RNASEH2A
  • RNASEH2B
  • RNASEH2C
  • SAMHD1
  • SLC16A2
  • SLC17A5
  • SOX10
  • TREX1
  • TUBB4A
  • VPS11

Specialties

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