Whole Exome Sequencing for DD/ID

By combining the advantages of “Chromosomal Microarray Analysis for DD/ID (Cyto-390)” and “Whole Exome Sequencing (WES) for DD/ID”, it is possible to conduct efficient investigation on the cause of disorders including CNVs and SNVs. The result of analysis supports the physician in determining the condition and providing the best management.

By combining the advantages of “Chromosomal Microarray Analysis for DD/ID (Cyto-400+)” and “Whole Exome Sequencing (WES) for DD/ID”, it is possible to conduct efficient investigation on the cause of disorders including CNVs and SNVs. The result of analysis supports the physician in determining the condition and providing the best management.

Two primary mutations in human genome

Five genetic factors of developmental delay

Whole Exome Sequencing (WES) for DD/ID

Phalanx Biotech utilizes Illumina next-generation sequencing platform and gene trapping to acquired detailed full exome sequencing. The gene group for analysis is analyzed using the detailed clinical manifestation and preliminary diagnosis. International gene database is accessed for matching to detect the location of pathogenic SNV.

Genetic disease testing

Recommended Subjects

Individuals with clinical manifestation, for example, developmental delay or intellectual disability, who is not otherwise diagnosed.
Unknown cause, unable to be specified via clinical means, seeks to rule out the possibilities of gene abnormality.
Familial history of births with other genetic disorder, chromosomal disorder or congenital defect.

Test procedure

1
The physician collects 1-3 ml blood (or 0.2 ml from baby heel)
2
Providing written informed consent, the physician records clinical manifestation
3
Laboratory test, sequencing and analysis
4
Report provided by the physician