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ALS/Frontotemporal dementia and syndromes included in the differential diagnosis (48-gene panel, NGS)

Code: 10016

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(48 genes)

  • ALS2
  • ANG
  • ANXA11
  • ATL1
  • ATXN2
  • BSCL2
  • CCNF
  • CHCHD10
  • CHMP2B
  • CSF1R
  • DCTN1
  • ERBB4
  • FIG4
  • FTL
  • FUS
  • GBE1
  • GRN
  • HEXA
  • HNRNPA1
  • HSPD1
  • KIF5A
  • MAPT
  • MATR3
  • NEFH
  • NEK1
  • OPTN
  • PFN1
  • PRNP
  • PRPH
  • PSEN1
  • REEP1
  • SETX
  • SIGMAR1
  • SLC52A2
  • SLC52A3
  • SOD1
  • SPAST
  • SPG11
  • SQSTM1
  • TARDBP
  • TBK1
  • TFG
  • TREM2
  • TUBA4A
  • UBQLN2
  • VAPB
  • VCP
  • WASHC5

Specialties

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