Useful Info
GENETIC COUNSELLING   

 
Genetic counselling is the process of providing information about the medical and family implications of a specific disease in a clear and non-directive manner. Such counselling aims to help individuals make informed decisions about planning a family, taking part in screening programmes and accepting prophylactic therapies. Genetic counselling may be provided by a medical geneticist, a specialist nurse, or a clinician with particular skills in this area, such as an obstetrician or paediatrician. Perception of genetic risks clearly depends on perceived hazard. For example, a 5% (or 1:20) risk of genetic disease may be perceived as low if the disease is treatable, but unacceptably high if not.
 
Clinical genetics services
Component
Role
Medical  geneticist 
Diagnosis and management of genetic disease, assessment of genetic risk, managing screening programmes, interpretation of genetic test results. Subspecialties include prenatal genetics, dysmorphology (syndrome identification), cancer genetics
Genetic counsellor
Assessing genetic risk, provision of genetic counselling (providing accurate risk information in a comprehensible format), predictive testing for genetic disease and provision of information and support
DNA diagnostic laboratory
Identifying and reporting disease-causing mutations in validated disease genes. Some laboratories also provide linkage analysis to track diseases in families. Laboratories often work in a consortium, as so many different disease genes have now been identified
Cytogenetics laboratory
Identifying pathogenic numerical and structural chromosome anomalies in prenatal, postnatal and oncology samples
Biochemical genetics laboratory
Metabolite and enzymatic-based diagnosis of IEM. Metabolite-based monitoring of treatment of IEM
Newborn screening laboratory
Provision of population-based newborn screening, e.g. PKU, cystic fibrosis, etc.
(IEM = inborn errors of metabolism; PKU = phenylketonuria)
source=http://akramania.byethost11.com/Davidson/hc003072.htm
The Role of Neuroimaging in Diagnosis and Treatment of inborn errors of metabolism   

Neurodegenerative and neurometabolic disorders may cause significant morbidity and mortality in children. Imaging is important in early diagnosis of metabolic disorders and in determining the extent of brain injury. Especially after the development of new techniques such as diffusion-weighted magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS), neuroimaging plays more important role in the diagnosis and management of these disorders. In these disorders, usually a mutation causes a clinically significant block in one or more metabolic pathways. This blockage usually results in either a deficiency of the product or in an accumulation of substrate with damage induced by either storage or toxicity. The presenting symptoms are usually nonspecific. In some of the metabolic disorders, long-term dietary or medical treatment options are available, and to make an early diagnosis in these disorders is important before the brain damage occurs. Prompt diagnosis, particularly in treatable disorders, is crucial to prevent neurological sequelae or death. If treatment is indeed available, neuroimaging also provides a baseline in evaluation of the efficacy of treatment. Therefore, the neuroradiologist should be aware of these disorders to prevent devastating results of delayed diagnosis. Metabolic disorders affecting the central nervous system, both gray and white matter can be classified by involvement of the primary cellular organelle as lysosomal, peroxisomal, mitochondrial disorders, or biochemical classification can be made as amino acid and organic acid metabolism defects or primary white matter disorders .


source=http://onlinelibrary.wiley.com/doi/10.1111/j.1552-6569.2011.00575.x/full

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Few UseFul Marker In IEM

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THE MISFITS

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Benefit of newborn screening

Over the last 3 decades many new and effective therapies.....

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