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Lab Manual for UCSF Clinical Laboratories

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Inherited Neurological Disorders

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Neurological Disorders Service
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Fragile X Syndrome

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This assay utilizes both a genomic Southern blot and a PCR assay to distinguish respectively methylation status and CGG repeat number of the FMR-1 gene which when mutated causes Fragile X syndrome. Both premutations and full mutations can be accurately detected. For postntal testing, the test requires 5 mL of whole blood or/and for prenatal diagnosis, we require two T-25 flasks with confluent growth from amniocytes. Turnaround time is approximately one week. Please note that direct testing from amniocytes or CVS cultures are not acceptable for this test.

Frontotemporal Dementia

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The microtubule-associated protein, tau located on chromosome 17q21, co-assembles with tubulin to form microtubules. Tau is mostly found in axons and when hyperphosphorylated appears to form tangles of paired helical filaments,which can damage the neuronal cytoskeleton and lead to neurodegeneration. Mutations in the gene encoding tau were found in individuals with frontal temporal dementia and pallidopontonigral degeneration. This test will detect 3 mutations, two missense mutations commonly found in the tau gene (P301L, N279K) and a splice isoform mutation (IVS10,14 C to T).

Huntington’s Disease

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This PCR-based Southern blot assay will determine the number of CAG repeats in the Huntington's gene. Alleles are classified as normal if the number of repeats in the gene is 30 or less, non-informative from 31 to 39, and causing Huntington’s disease if 40 or greater.

Samples are accepted only from a Huntington’s clinic offering appropriate genetic counseling.

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