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genetic testing

Genetic Testing


Carrier Screening
provides you and your physician with information regarding your reproductive risks and how they may impact your children. By identifying each parent’s genetic risks, families can understand the chance that a child may or may not be affected by certain conditions, understand the available options for achieving pregnancy, and allow informed decisions for the future of your family. Every individual has two copies of each gene within their body. You receive one copy from your mother and one from your father. The combination is what determines your characteristics. A carrier is someone that has one normal copy of the gene and one abnormal copy. The problem is carriers are healthy and do not typically have a family history of disease. It is very common for anyone of us to be unaware of our carrier status. Identifying one’s carrier status is important while planning to have a baby as this has direct implications for the health of your child. If both parents are found to be carriers of the same disease, they have a 25% chance of having an affected baby (for autosomal recessive disorders) and may choose preconception or prenatal genetic testing to make informed decisions during pregnancy. Carrier screening is a very useful family-planning tool. Whether you are pregnant or planning, carrier information is important to understand before your child arrives.
Non-invasive pregnancy diagnostics (NIPD)
is a new type of genetic test that screens for birth defects and inherited diseases. Up until now, the only way to check your baby’s DNA was to take a direct sample of your baby’s amniotic fluid, blood, or placental tissue. You would need amniocentesis or CVS (Chorionic Villus Sampling). Both have a small risk of causing miscarriage or complications. NIPD takes a different approach. It tests the small amount of your baby’s DNA that’s naturally found in maternal blood. NIPD can check for birth defects such as Down syndrome, trisomy 14 and 18, as well as inherited diseases such as cystic fibrosis, hemophilia, and other conditions. It can also show whether your baby is a boy or a girl. NIPD is highly accurate and spares women from an invasive procedure (such as amniocentesis or CVS).
Parentage verification
DNA paternity or maternity testing is the most advanced and accurate method available for resolving parentage for medical, legal, or personal reasons. Using a simple buccal swab (mouth swab) specimen collection from the child and either parent, parentage can be verified with 99.9% accuracy. A person’s DNA represents a “genetic blueprint” and like a fingerprint, is unique to each individual. At the PHIX laboratory, the DNA is extracted from the cell and specific regions of the DNA are amplified by a process known as PCR (polymerase chain reaction) for careful examination. The DNA pattern of the child is compared to that of the parent. Because the genetic information of a child is inherited from his/her biological parents, the examination of the DNA of the child will conclusively determine whether the alleged father or mother is the true biological parent of the child.
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