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Leukodystrophies due to inborn errors of metabolism comprehensive panel [73 genes]
Among the pathological mechanisms underlying leukodystrophy and other inherited leukoencephalopathies, inborn errors of metabolism stand out, and they can be divided into peroxisomal lysosomal, mitochondrial and energy, and intermediate metabolism disorders.
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1. Download & fill out
Please cover as many fields as possible in both documents
2. Sample collection
Three sample types: saliva, peripheral blood or genomic DNA
3. Pack the sample
Please pack the sample in a way to prevent leakage
4. Send the sample & the request
Please schedule the delivery for Mon–Thur: 8am – 5pm
5. Result: the report
Via: Client Site HIC / Client Site Imegen / Certified email
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Leukodystrophies due to inborn errors of metabolism comprehensive panel
Turnaround time (TAT): 6 weeks
Ref. S-202008653
Leukodystrophies due to inborn errors of metabolism comprehensive panel: View panel
- ABCD1
- ACER3
- ACOX1
- AIFM1
- ALDH3A2
- ARSA
- ASPA
- CBS
- CLN5
- CLN6
- CLN8
- COA8
- CTSA
- CTSD
- CYP27A1
- DARS2
- DEGS1
- EARS2
- ELOVL4
- FA2H
- FOLR1
- FUCA1
- GALC
- GALT
- GBE1
- GLA
- GLB1
- GM2A
- GRN
- HEXA
- HEXB
- HSD17B4
- IBA57
- ISCA2
- KCTD7
- L2HGDH
- LYRM7
- MARS2
- MCOLN1
- MFSD8
- MTHFR
- NDUFS1
- NDUFV1
- PAH
- PC
- PEX1
- PEX10
- PEX11B
- PEX12
- PEX13
- PEX14
- PEX16
- PEX19
- PEX2
- PEX26
- PEX3
- PEX5
- PEX6
- PEX7
- PHYH
- POLG
- PPT1
- PSAP
- PYCR2
- RARS
- RARS2
- RPIA
- SCP2
- SLC17A5
- SLC25A12
- SUMF1
- TPP1
- TYMP
Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.