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