
NEW BORN
Analysis
Identify genetic disordersin new-born babies

Whole Exome
Sequencing-Diagnostic.
To Confirm the genetic disorder of the affected baby and understand risk of having another affected child

Whole Exome
Sequencing Screening.
To understand the couple's risk of having an affected child with a genetic disorder

Next Generation Sequencing
(Precision Panel - Single gene)
Single gene testing with Igenomix includes the possibility to individually analyse single genes that are that are associated with a clinical phenotype using next generation sequencing.

Chromosomal MicroArray
Chromosomal microarray analysis (CMA), is a diagnostic test that can detect clinically significant large (whole chromosome) and sub microscopic (microdeletion / microduplication) copy number changes throughout the genome.
This test allows the detection of microdeletions and microduplications of chromosome segments, which are too small to see under a microscope but may contain multiple genes.

Sanger/MiniSeq
Sequencing
Single gene testing with Igenomix includes the possibility to individually analyse single genes that are that are associated with a specific clinical phenotype using different techniques including sanger sequencing.

Multiplex ligation dependent probe amplification
Multiplex Ligation dependent Probe Amplification (MLPA) is a multiplex PCR method used to detect abnormal copy numbers of up to 50 different genomic DNA or RNA sequences.
Karyotyping
Karyotyping is able to detect polyploidy,
aneuploidy, translocations, inversions, rings, and copy number changes in the size range of 4–6Mb; smaller copy number changes require the use of molecular cytogenetic techniques.

Expansions
Repeat expansions are common genetic variations that are usually associated to neurogenetic disorders. These expansions are a different class of genetic disease that occur due to dynamic mutations that can change from generation to generation.