Genetic Variants & Technologies For Detection

Genetic Variants and Technologies for Detection

  Genomic Defects Unknown Targeted Examples/Conditions
Aneuploidy Loss or Gain of Whole Chromosome Karyotyping
NGS
Cyto Microarray
FISH
Karyotyping
Pregnancy loss, Congenital defects Failure to thrive, Intellectual disability, Down Syndrome, Turner Syndrome
Gross Chromosomal Abnormalities5-10Mb Karyotyping
Cyto Microarray
FISH
Karyotyping
Recurrent Pregnancy Losses, Infertility, Birth Defects, Developmental Problems, Intellectual Disability
Subtle Chromosomal Deletions Duplications >50Kb Cyto Microarray FISH
Cyto Microarray
Global Development Delay, Micro Deletion Syndromes, Dandy Walker Syndrome, DiGeorge Syndrome
Single Gene Deletions Repeats Duplications >20bp NGS
Sanger (Gene)
PCR
MLPA
Sanger Seq
Fragile X, Huntington Disorder, Spinal Muscular Atrophy, Duchenne Muscular Dystrophy, AZF deletions
Point Mutations or Single Nucleotide Variants (SNVs) NGS
SNP MicroArray
Sanger (Gene)
PCR
qPCR
Sanger Seq
Thalassemia, Albinism, Cystic fibrosis, Retinitis Pigmentosa, Congenital Myopathy, Hearing Loss