Through PRENITA, Bioserve offers a range of prenatal and post-natal screening tests that provide accurate results with actionable insights, which help the clinician to analyze and provide the best outcome to the patients. PRENITA provides the most advanced Preimplantation Genetic Screening/Diagnosis (PGS/PGD), Non-Invasive Prenatal Screening Test (NIPT), Invasive Diagnostic testing… Read more
Testing for Microdeletion and Duplication

Multiple congenital anomalies and mental retardation comprise a large, heterogeneous group of diseases that affect approximately 3% of new-borns and microdeletion and microduplication syndromes constitute one of the major contributing factors to this. 

Microdeletion and microduplication syndromes are disorders caused by sub microscopic deletions or duplications of contiguous genes on parts of chromosomes. 20 common Microdeletion and duplication regions are testing using this panel by MLPA technology. Both prenatal and postnatal samples can be tested. 

Commmon Microdeletion and duplication Syndromes Tested
Wolf-Hirschhorn syndrome  Rubinstein-Taybi syndrome 
1p36 deletion syndrome  Angelman syndrome 
Cri-du-Chat syndrome  Miller-Dieker syndrome 
Sotos syndrome  Lissencephaly-1 17p13.
Saethre-Chotzen syndrome  Smith-Magenis syndrome 
Williams-Beuren syndrome  Potocki-Lupski syndrome 
Williams-Beuren duplication syndrome  Alagille syndrome 
Langer-Giedion syndrome  DiGeorge syndrome 
WAGR syndrome  22q11.2 microduplication syndrome 
Prader-Willi syndrome  Phelan-McDermid syndrome 

 

Identifying the Microdeletion and duplication syndrome helps the:

  • Healthcare practitioner to plan the treatment accordingly
  • Better management plan
  • Early informed decisions can be taken by the parents in prenatal condition

Get in touch