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          Home / Clinical areas / Neurology / Leukodystrophies and Other Hereditary Leukoencephalopathies / Leukodystrophies caused by inborn errors of metabolism

          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
          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.

          Related panels
          Leukodystrophies due to inborn errors of metabolism comprehensive panel [73 genes]

          Leukodystrophies and other hereditary leukoencephalopathies comprehensive panel [142 genes]

          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

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