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 |