Genetic Fragile-X Syndrome Karyotyping DNA Test


Genetic Fragile-X Syndrome Karyotyping DNA Test

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Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females.

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Affected individuals usually have delayed development of speech and language by age 2. Most males with fragile X syndrome have mild to moderate intellectual disability, while about one-third of affected females are intellectually disabled. Children with fragile X syndrome may also have anxiety and hyperactive behavior such as fidgeting or impulsive actions. They may have attention deficit disorder (ADD), which includes an impaired ability to maintain attention and difficulty focusing on specific tasks. About one-third of individuals with fragile X syndrome have features of autism spectrum disorders that affect communication and social interaction. Seizures occur in about 15 percent of males and about 5 percent of females with fragile X syndrome.

Most males and about half of females with fragile X syndrome have characteristic physical features that become more apparent with age. These features include a long and narrow face, large ears, a prominent jaw and forehead, unusually flexible fingers, flat feet, and in males, enlarged testicles (macroorchidism) after puberty.

At the laboratory, cells are grown in tissue culture, and chromosomes are separated from dividing cells for evaluation. A clinical cytogeneticist will analyze your chromosomes under a microscope.

Test results will be available to your doctor within 7 days

Understanding results

Chromosome Analysis/Cytogenetics/Karyotype testing is intended to identify chromosomal changes that may be associated with certain blood disorders or cancer. This test may identify other chromosomal changes not associated with cancer.

This test cannot identify certain inherited gene variations which might have increased your risk of cancer. It does not explain why a patient may develop cancer at an early age, or why they have family members with cancer.

The results of Chromosome Analysis/Cytogenetics/Karyotype testing can help your doctor provide an accurate diagnosis and select the most appropriate treatment for you.

The significance of an abnormal result will differ depending on your disease. In some diseases such as myelodysplastic syndrome (MDS) or chronic myelogenous leukemia (CML), your test result is used to confirm a diagnosis. In these and other diseases, an abnormal result provides a prognosis (aggressiveness of disease).

Your doctor may request additional testing to determine a diagnosis and appropriate treatment, if your test result is normal. Your doctor will discuss the available tests with you.

Reporting Time : 7 Days (From the day sample reaches our Lab)
Whole blood: Send in EDTA Tubes (Purple Top Vacutainer)
Blood Spots FTA Cards
Check Sample Buccal Swabs

At DNA Labs India, we are dedicated to quality DNA testing. We know that you need accurate, reliable results for such an important test, and we are committed to providing you with high quality DNA testing services. By choosing DNA Labs India, you will receive the highest quality, most conclusive results in the industry.

  • AABB: The AABB is a United States-based professional body and standards organization that was founded in 1947 as the American Association of Blood Banks.
  • NATA: The National Association of Testing Authorities (NATA) accreditation provides a means of determining, recognizing and promoting the competence of facilities to perform specific types of testing and provides formal recognition to competent testing facilities, thus providing a ready means for customers to identify and select reliable testing services.
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  • In light of the amendment of ISO 9001:2008, the International Accreditation Forum (IAF), the International Laboratory Accreditation Cooperation (ILAC), and the International Organization for Standardization (ISO) have issued a revised communiqué declaring that the management system requirements of ISO/IEC 17025 meet the principles of ISO 9001:2008.
  • CAP: The College of American Pathologists, the principal organization of board-certified pathologists, serves and represents the interest of patients, pathologists, and the public by fostering excellence in the practice of pathology and laboratory medicine.
  • Clinical Laboratory Improvement Amendments (CLIA) in 1988 establishing quality standards for all laboratory testing to ensure the accuracy, reliability and timeliness of patient test results regardless of where the test was performed.
  • The International Laboratory Accreditation Cooperation (ILAC) first started as a conference in 1977 with the aim of developing international cooperation for facilitating trade by promotion of the acceptance of accredited test and calibration results.
  • FDA: Swabs and lancets are sterilized in accordance with ANSI/AMMI/ISO Guidelines and are validated as "sterile" by third party FDA registered facilities. You may have total confidence in knowing that the products used to collect your samples are in compliance with the strictest requirements in the world, ensuring your safety and personal health.

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