Platinum Diagnostic Lab now offering a variety of genetic carrier screening panels

Platinum Diagnostic Lab now offering a variety of genetic carrier screening panels. These include ethnic, panethnic and expanded panels. The healthcare providers have the options to choose either individual screening tests such as cystic fibrosis, spinal muscular atrophy, Fragile X Syndrome or expanded panels for ethnic based screening such as the Ashkenazi Jewish panel.
 

We also offer BRCA1/BRCA2 inherited cancer screening panel for inherited breast and ovarian cancer screening. In addition, we are offering a 50 gene inherited disease panel called the InheriLinc panel. This comprehensive panel includes genetic screening that identifies inherited risks for a variety of hereditary cancer and other inherited genetic disorders. Based on recommendations of healthcare providers and patient family history, clients can choose to get tested. This panel will allow clients to determine whether they are at risk for certain inherited conditions and take steps to lower that risk for themselves and their family members.

What is Carrier Screening?

Carrier screening describes tests that help determine whether an individual carries a gene passing on specific genetic disorders when performed during pregnancy. It provides helpful information regarding the likelihood of bearing offspring with genetic disorders. 

A brief description of each of the tests is listed below:

• CYCTIC FIBROSIS (CF) is one of the most common, severe and life-shortening of all genetic diseases. It affects approximately 1 in 3,000 Caucasian births and about 1 in 25 Caucasians is a carrier of CF. Parents are tested to find out if they are carriers to predict their chances of having a child affected with CF.
• SPINAL MUSCULAR ATROPHY (SMA) is a genetic disease that affects the area of the nervous system that makes voluntary muscle movement possible. SMA occurs in 10,000 live births and affects both males and females. It is the most common inherited lethal disease in children, involving the degradation of cells that control movement in the spinal cord, leading to muscle weakness and wasting. Detection rates vary by ethnicity. 
• FRAGILE X SYNDROME is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. It is the most commonly inherited form of mental retardation caused by repetitions of small portions of DNA. Usually males are more severely affected by this disorder than females. It affects approximately 1 in every 3,600 males and 1 in 6,000 females.  Affected individuals have delayed development of speech and language by age 2.
• ASHKENAZI JEWISH GENETIC DISEASES are a group of rare disorders that occur more often in people of Eastern European Jewish Descent. These disorders include Gaucher disease, Canavan Disease, cystic Fibrosis, Tay-Sachs, familial dysautonomia, Bloom syndrome, Fanconi anemia group C, mucolipidosis type IV, and Niemann-Pick. Therefore, carrier screening for 16 disorders in individuals of Eastern (Ashkenazi) Jewish descent who are planning a pregnancy or are currently pregnant is recommended. Screening for specific disorder may be offered to non-Ashkenazi Jews.