Genetic Clinics 2017, Vol 10, Issue 1, 2017

Next generation sequencing has changed the approach to genetic diagnosis and testing in recent times. The days have arrived when a molecular genetic diagnosis can be attempted even without the availability of the proband or affected person. However this requires additional strong evidence of diagnosis in the proband, such as biochemical or radiological hallmarks. Needless to say, this attempt should always be made during counseling to make the family aware of the fallacies and limitation involved due to non-availability of the sample of the proband.

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  http://iamg.in/genetic_clinics/adm/articlepdf/genevista_January_March_2017.pdf