Clinical evaluation of infants, children, and adults with birth defects, congenital malformations and deformities, intellectual disabilities, inherited disorders, and genetic conditions.
Dr. MJ Hajianpour, MD, PhD, FACMG is board-certified in Clinical Genetics and Clinical Cytogenetics by the American Board of Medical Genetics and holds a PhD degree in Human Genetics from the University of Newcastle, United Kingdom. He has over 20 years of experience in the field of Clinical Medical Genetics. He is personally involved in all the services and consultations at the Gene Trek Genetics.
Thinking of having a child but have concerns about risks for genetic conditions running in your family or your partners family? Genetic counseling is the process of identifying the risk of an inherited condition based on the latest available scientific information and appropriate laboratory testing.
Diagnostic testing and screening is used to confirm a clinical diagnosis and to identify the presence of a genetic condition in an individual who is considered to be at-risk for that condition. The individual could be non-symptomatic or pre-symptomatic. The study is valuable for detecting existing disease, predisposition to a disease, or to identify carriers with a reproductive genetic risk.
Some conditions that can be detected with genetic testing are:
- Blood Clotting Disorders
- Cancer - Breast (BRAC 1 and 2)
- Cancer - Ovarian
- Cancer - Colon
- Cancer - Endometrial
- Cancer - Brain
- Cancer - Prostate
- Hypertrophic Cardiomyopathy
- Long QT Syndrome
- Hemochromatosis
- Adult Polycystic Kidney Disease
Genetic abnormalities can be identified after conception using a variety of screening and diagnostic tests. These tests are most often ordered for mothers who have a higher than normal chance of birth defects due to history, medical issues, or exposure to chemicals or other substances.
Who Should Consider Prenatal Diagnosis?
There are certain guidelines regarding who might benefit from prenatal testing. These include:
- Women who will be 35 or older on their due date.
- Couples who have a child or other close relative with a birth defect.
- Pregnant women with abnormal results from the expanded alpha fetoprotein (AFP) test, a blood test that estimates the risk to fetus for neural tube defect (NTD) and some chromosomal disorders such as Down syndrome (Trisomy 21), Trisomy 18, etc.
- Pregnant women who have other concerns about the health of the fetus.
- Couples with one or both partners who carry an inherited disease such as Tay-Sachs, sickle cell anemia or cystic fibrosis.
- Pregnant women who have been exposed to agents, such as medications, that may be harmful to the fetus.
- Women who have undergone an ultrasound test that has found abnormalities in the fetus.
“WHAT CONDITIONS ARE IDENTIFIED THROUGH PRENATAL DIAGNOSIS?”
There are more than 7,000 known genetic conditions. About 3-4% of newborns (one in every 28-25 births) may have a birth defect / multiple congenital anomalies which could be caused by a gene defect. Some of the conditions that can be identified through fetal sonogram, genetic screening and diagnostics tests include:
- Neural Tube Defects (e.g., Hydrocephaly)
- Cleft lip or palate
- Clubfoot
- Cystic fibrosis
- Down syndrome
- Fragile X syndrome
- Heart defects
- Huntington's chorea
- Hydrocephalus
- Phenylketonuria (PKU)
- Sickle cell anemia
- Spina bifida
- Tay-Sachs disease
- Thalassemia
Order a test onlinehereor call us at 877-436-8735 to receive the Specimen Collection Kit.
