Leukodystrophy
Genes Tested 75 Genes
- AARS2
- ABCD1
- ACOX1
- ADAR
- AIMP1
- ALDH3A2
- ARSA
- ASPA
- CSF1R
- CYP27A1
- DARS1
- DARS2
- EARS2
- EIF2B1
- EIF2B2
- EIF2B3
- EIF2B4
- EIF2B5
- EXOSC8
- FOLR1
- FUCA1
- GALC
- GBE1
- GFAP
- GJA1
- GJC2
- HEPACAM
- HSD17B4
- HSPD1
- HTRA1
- HYCC1
- ISCA2
- KCNT1
- L2HGDH
- LAMA2
- LAMB1
- LMNB1
- MCOLN1
- MLC1
- NKX6-2
- NOTCH3
- PEX1
- PEX10
- PEX12
- PEX13
- PEX14
- PEX16
- PEX19
- PEX2
- PEX26
- PEX3
- PEX5
- PEX6
- PLP1
- POLR1A
- POLR1C
- POLR3A
- POLR3B
- PSAP
- PYCR2
- RARS1
- RNASEH2A
- RNASEH2B
- RNASEH2C
- RNASET2
- SAMHD1
- SLC16A2
- SLC17A5
- SOX10
- SPTAN1
- SUMF1
- TMEM106B
- TREX1
- TUBB4A
- VPS11
For the following gene, a dosage analysis is also included.
Test Information
Test Code |
241.02 |
Genes Tested |
75 Genes |
Method(s) |
Next Generation Sequencing (NGS) |
Sample Requirements |
2-4 ml EDTA blood Please click here for more detailed information |
Turnaround Time |
3-6 weeks |