What are Genetic Tests?

GENETIC TESTS
(a) Photograph showing demarcation of healthy and ischemic skin. Necrosis extended to the tendons (arrow) of the right lower leg because of purpura fulminans (PF). PF was completely resolved after anticoagulation therapy (lower left and middle). Computed tomography (CT) image (day 2) and magnetic resonance imaging (MRI, day 3) of the brain, coronal view, showing extensive intracranial thrombosis or hemorrhage in the right occipital lobe. Right upper panel: CT imaging of the brain. Right lower panel: MRI. (b) Familial pedigree. Squares: males; circles: females; open shape: unaffected, noncarrier; half-filled shape: heterozygous carrier; filled shape: congenital protein C deficiency patient. Both parents carried heterozygous mutations in PROC. (c) Prenatal genetic analysis for the fetus. The fetus inherited a wild-type allele from the father and a missense mutation from the mother. Prenatal genetic testing for familial severe congenital protein C deficiency: Tairaku S, Taniguchi-Ikeda M, Okazaki Y, Noguchi Y, Nakamachi Y, Mori T, Kubokawa I, Hayakawa A, Shibata A, Emoto T, Kurahashi H, Toda T, Kawano S, Yamada H, Morioka I, Iijima K - Human genome variation (2015). Not altered. CC.

Diagnostic Methods and Indications for Testing 

Laboratory Considerations 

Indications for Analysis of Inherited Genetic Alterations 

Indications for Analysis of Acquired Genetic Alterations 

PCR and Detection of DNA Sequence Alterations 

Molecular Analysis of Genomic Alterations 

Fluorescence in Situ Hybridization (FISH) 

Multiplex Ligation-Dependent Probe Amplification (MLPA) 

Southern Blotting 

Cytogenomic Array Technology

Polymorphic Markers and Molecular Diagnosis

Polymorphisms and Genome-Wide Analyses 

Epigenetic Alterations 

RNA Analysis

Next-Generation Sequencing 

Bioinformatics

Clinical Applications of NGS DNA

Sequencing

Future Applications