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Leukodystrophies associated with lysosomal disorders panel [22 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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Steps to follow
How to order
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 associated with lysosomal disorders panel
Turnaround time (TAT): 6 weeks
Ref. S-202008610
Leukodystrophies associated with lysosomal disorders panel: View panel
- ARSA
- CLN5
- CLN6
- CLN8
- CTSA
- CTSD
- FUCA1
- GALC
- GLA
- GLB1
- GM2A
- GRN
- HEXA
- HEXB
- KCTD7
- MCOLN1
- MFSD8
- PPT1
- PSAP
- SLC17A5
- SUMF1
- TPP1
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.
Phenotypes
- GLA: Fabry disease
- GALC: Krabbe disease
- SLC17A5: Free sialic acid storage disease
- FUCA1: Fucosidosis
- CTSA: Galactosialidosis
- GLB1, GM2A, HEXA, HEXB: Gangliosidosis
- ARSA, PSAP, SUMF1: Metachromatic leukodystrophy
- CLN5, CLN6, CLN8, CTSD, GRN, KCTD7, MFSD8, PPT1, TPP1: Neuronal ceroid lipofuscinosis
- MCOLN1: Mucolipidosis IV