New Born Screening is a test to screen a newly born baby within 24-72 hours of birth. It identifies if the new born baby has an IEM disorder (Inborn error of metabolism), that were not observable at the time of birth. These disorders are manageable if identified at an early stage in life. Newborn screening test helps in early diagnosis and proper treatment of these disorders thereby making a difference between lifelong impairment and healthy development of the baby.
New born genetic screening test resolves serious problems such as an intellectual/developmental disability, illness or death, may be prevented if we find the disorders right away. Baby might have a condition even if there is no family history. It is recognized by the World Health Organization (WHO) as one of the most effective health initiative of the 21st century.
Disorders range from difficulties processing certain nutrients (metabolic), to problems with hormones (endocrine), to the production of abnormal forms of hemoglobin, the oxygen-carrying protein in red blood cells. Newborn screening tests help to identify treatable congenital disorders within few days of birth. Life-threatening health issues, mental health issues, and serious lifelong disabilities can be avoided or may be reduced if a condition is quickly identified and treated.
Sample collection is easy process, just a simple heel prick blood test is sufficient to take the sample. And the report is generated within 10 days.
Cystic fibrosis (CFTR) is a life threatening genetic disease affecting children and young adults. CF causes body to produce abnormally thick mucus, leading to lung infections, digestion problems, diarrhea, poor growth and male infertility. If someone is suffering from cystic fibrosis then there must be a inheritance of one copy of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation from each parent. People who have only one copy of a CFTR gene mutation generally don’t suffer with Cystic Fibrosis. They are called carriers of the CF gene.
CF is a genetic disease that in general affects the lungs and digestive system. The defective gene responsible for CF leads to the creation of thicker, stickier mucus than is usual. This mucus is difficult to cough out of the lungs. This makes breathing difficult and might lead to severe lung infections.
Cystic fibrosis requires very less amount of DNA for the test and works well with all the sample type. Cystic fibrosis is generally diagnosed during newborn screening, which is done by a simple and safe procedure of heel-prick test that all babies should undergo. If someone has a family history of Cystic Fibrosis, partner with CF, or a child with the condition, they may choose to get carrier testing to see if they carry the gene that can cause it.
There are also ways to test for CF during pregnancy, which carry some risks and are only usually carried out in pregnancies with a high chance of cystic fibrosis.
Chromosomal microarray is chromosomal that can be done during pregnancy, for this an amniocentesis or chorionic villus sampling (CVS) sample is taken. It is also done for the patients who are suffering with some genetic issues. Extra (trisomy) or missing (monosomy) chromosomes can be detected with CMA, but it may not be able to find chromosome translocations.
Resolution microarray test screens for submicroscopic chromosomal changes in DNA with whole genome coverage. CMA checks for the imbalances in the amount of chromosomal material in a DNA sample by comparing it with a reference database. This information helps in determining type of disorder in the sample. Chromosomal microarray analysis also helps in identifying the chromosomal deletion or addition or any duplication.
Chromosomal Microarray Analysis (CMA) a Clinical Diagnostic Tool in the Prenatal and Postnatal Testing.
Whole-genome microarrays covers both polymorphic (SNPs) and non-polymorphic regions of the genome that can be used to assess DNA copy number variations at a much higher resolution to support the assessment of potentially causative genetic alterations such as DNA copy number variations (CNVs), chromosomal imbalances, and allelic imbalance indicative of absence of heterozygosity (AOH), loss of heterozygosity (LOH), or long contiguous stretches of homozygosity (LCSH). In order to be a leading diagnostic service provider in Microarray technology with state of the art high end equipment, Genes2Me offers Microarray Screening PAN India with three variants to choose from, giving flexible options according to specific requirements of the patient/Doctor.
Chromosomal microarray analysis helps in analyzing the genetic problems with high accuracy.
