BabyMap BabyMap Family Screening brings advanced genetic technology to carrier and newborn screening. Here are a few reasons why BabyMap is the perfect choice for parents who want to be proactive and give their children the very best start in life:
Why is Newborn Screening Important?
- DNA Based: BabyMap tests DNA- the "blueprint" that codes for health or disease- for changes that could indicate a serious but preventable genetic condition
- Quick Results: Since DNA is typically unchanged (compared to fluctuations in levels of biochemicals) BabyMap can be performed immediately after birth. There is no need to wait for 48 hours before the baby's metabolism kicks in.
- Coverage: BabyMap Newborn Screening tests 0ver 90 genes that are clinically linked to over 70 genetic conditions
- Confirmatory Testing: Since BabyMap is DNA based, it does not require extensive follow-up testing or additional confirmatory testing. It is a genetic test that can be used for screening as well confirmation.
Knowing one’s carrier status allows you to:
- Determine the chance for future children to be affected by certain hereditary conditions
- Understand the available options for achieving pregnancy
- Make informed decisions for the future of your family
Some conditions covered:
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- Organic Acid Disorders::3-Hydroxy-3-methylglutaric aciduria (3-hydroxy-3-methylglutaryl-CoA lyase deficiency), Glutaric acidemia Type I, Methylmalonic acidemia (methymalonyl-CoA mutase deficiency), Propionic acidemia.
- Fatty Acid Oxidation Disorder Conditions:: Long chain L-3 hydroxyacyl-CoA dehydrogenase deficiency.
- Amino Acid Disorder Conditions:: Benign hyperphenylalaninemia, Homocystinuria, Hypermethioninemia, Maple syrup urine disease, Phenylketonuria, Tyrosinemia.
- Endocrine / Hemoglobin Conditions:: Congenital adrenal hyperpalsia, Primary congenital hypothyroidism, S, Beta thalassemia, Sickle cell anemia (S,S Disease), Sickle cell disease (S,C Disease).
- Other Conditions:: ADA Severe combined immunodeficiency (Adenosine deaminase), Biotinidase deficiency, Cystic fibrosis, Nonsyndromic deafness (Hearing loss), X-linked Severe combined immunodeficiency.
- Additional BabyMap Conditions:: Fabry disease (GLA deficiency), Glucose-6-Phospohate Dehydrogenase Deficiency, Mucopolysaccharidosis type 1, Niemann-Pick disease, X-linked adrenoleukodystrophy