What information does the Panorama™ test provide?
With the Panorama ™ test, the genetic material, i.e. the chromosomes of the baby, is examined for certain disorders. Each person has 23 chromosome pairs. That means a total of 46 chromosomes, two for each pair. – If an additional chromosome is present, i.e. three identical chromosomes instead of two, this is called Trisomy. If a chromosome is missing, so there is only one of each instead of two, this is called Monosomy.
The Panorama ™ test allows an examination for Trisomy 21, 18, 13 as well as for Triploidy, Monosomy X and Microdeletions.
Details on these chromosomal disorders can be found here .
As an additional examination, we offer microdeletion screening. The microdeletion syndromes 22q11.2 / DiGeorge, Prader-Willi, Angelman, Cri-du-chat and 1p36 are additionally examined from the same blood sample.
Which microdeletion syndromes can the Panorama ™ test detect in the screening?
Deletion syndrome 22q11.2/DiGeorge syndrome
Children born with deletion syndrome 22q11.2 often have heart defects, immune system weakness, and mild to moderate mental impairments. In addition, kidney conditions, problems with food intake and/or seizures can occur.
Deletion syndrome 1p36
Children born with 1p36 deletion syndrome have mental disabilities and behavioral problems, weak muscle tone, as well as cardiac and other birth defects. About half of them suffer from seizures.
Children born with Angelman syndrome are often developmentally delayed (i.e. sitting, crawling and walking). They also have seizures and problems with balance and walking. Furthermore, they have severe mental impairments and most of them do not learn to speak.
Cri-Du-Chat syndrome (5p syndrome)
Children born with Cri-du-chat syndrome usually have a low birth weight, a small head and decreased muscle tone. They often also have problems with food intake and breathing. These children are moderately to severely mentally handicapped.
Children born with Prader-Willi syndrome have weak muscle tone, problems with dietary intake and weight gain and are mentally handicapped. As children and adults, they gain weight rapidly and often develop adiposity-related medical problems.