Microdeletion/ Microduplication Syndrome
Microdeletion/ microduplication syndromes are disorders that are caused by the deletion or duplication of a small chromosomal segment spanning several genes that is yet too small to be detected by conventional cytogenetic methods. It can only be detected by advanced technology with high resolution.
utilities the advanced technology – Next Generation Sequencing which enables the accurate detection of microdeletions/ microduplication with a minimum size of 3Mb.
Common Microdeletion Syndrome
| Condition | Common Name | Estimated Prevalence in New bornCommon Name |
|---|---|---|
| 15q11 – q13 deletion (loss of function of active genes in regions on chromosome 15) | Prader-Willi syndrome | 1 in 10,000 – 30,000 |
| 15q11 – q13 deletion (loss of function of gene UBE3A on chromosome 15) | Angelman syndrome | 1 in 12,000 – 20,000 |
| 22q11.2 deletion syndrome | DiGeorge syndrome | 1 in 4,000 |
| 5p deletion syndrome | Cri-du-chat syndrome | 1 in 20,000 – 50,000 |
| 1p36 deletion syndrome | Monosomy 1p36 | 1 in 5,000 – 10,000 |
Standard & Advanced panel
