| Guidelines for Molecular Testing |
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A multitude of genes have been implicated in diseases like deafness, retinitis pigmentosa, Parkinson syndrome, Charcot Marie Tooth disease, mental retardation, spastic paraplegia, etc
Diagnostic testing may not follow the optimal flow chard if the mutation frequency of each of these genes or the price is not known. The guidelines below are an effort to provide flow chards for molecular testing of heterogeneous diseases.
Guidelines for Molecular Testing |
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Charcot-Marie-Tooth Disease |
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Dementia |
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Epilepsy |
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Hereditary Spastic Paraplegia |
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Leber Congenital Amaurosis |
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Limb Girdle Dystrophy |
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Mental Retardation |
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Non-syndromic Hearing Loss |
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Parkinson Disease |
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Retinitis Pigmentosa |
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Usher Syndrome |
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