EIF2B -Related Disorder - Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter Disease (CACH/VWM) – Mutation Analysis
Mutations in the five genes (EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5) encoding the five subunits of the eukaryotic translation initiation factor 2B (EIF2B) are known to be associated with CACH/VWM. Mutations in EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 have been found in approximately 90% of individuals with clinical and MRI presentation of CACH/VWM by use of mutation scanning or sequence analysis of the coding regions and splice sites.
Clinical tests offered are:
- Mutation analysis for the common mutation R113H + panel of 50 known mutations
Mutations screened on the panel are
- Subunit EIF2B2: E213G,G200A,G200V, E202fs, M203fs(607del15insTG), M203fs(607-612delinsTG), E213G, T218I, K273R
- Subunit EIF-2B4: R537Q, R537W, R364Q, R374C, R374L, A391D, E397ins11aa
- Subunit EIF-2B5: W111R, R113H, R113C, L127P, R136C, Y152fsX12, I156M, T182M, R195C, R195H, E198K, S253Y, F264fs, R269G, R269L, R269Q, R269X, R299H, H304P, V309L, C310F, D312G, R315C, R315G, R315H, V318I, P323S, C335H, R339P, R339Q, R339W, N341, Y343C, I385V, G386V
- Targeted mutation analysis
- Unknown mutation screening by EIF-2B gene sequencing
- Individual gene (subunit) tested
- EIF2B1 (alpha)
- EIF2B2 (beta)
- EIF2B3 (gama)
- EIF2B4 (delta)
- EIF2B5 (epsilon)
- Carrier Testing
Prenatal Diagnosis – research basis for familial mutation only
Download Test Requisition
Department: Molecular Diagnostics
Methodology: Polymerase Chain Reaction (PCR) to amplify all of exons of gene and direct sequencing by Applied Biosystems sequencer 3100
Sample:
• 6mL of whole blood collected in an EDTA, lavender or yellow topped tube. (minimum, 3mL)
• Dried Blood Spot Card: 3-5 completely filled spots.
• Fibroblasts: 2 confluent T25 flasks
Shipping and Handling:
Shipping: Ship at room temperature using a guaranteed overnight courier.
Special Notes
Contact the Molecular Diagnostics Laboratory Director prior to submitting a sample.
FOR KNOWN MUTATION ANALYSIS- indicate the mutation(s) on the test requisition; additionally, submit supporting documentation of the characterization of the mutation.
Turnaround Time:
Sequencing of whole EIF2B gene: 8-12 weeks
Sequencing of EIF2B Gene subunit: 4-6 weeks
Mutation analysis for common mutation and panel of 50 mutations: 4-6 weeks
Cost: Sequencing of whole EIF2B gene: $5000.00
Sequencing of EIF2B Gene subunit – price based upon subunit:
• EIF2B1 - $950.00
• EIF2B2 – $850.00
• EIF2B3 - $1150.00
• EIF2B4 -$1250.00
• EIF2B5 – $1350.00
Mutation analysis for common mutation and panel of 50 mutations: $850.00
Target or Carrier mutation analysis: $250.00
CPT code: 83890, 83891, 83892, 83894, 83898, 83904, 83909, 83912
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