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BabyMap NBS

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BabyMap Newborn Screening ( supplemental NBS ) provides you and your physician with information regarding your newborn's risks for developing genetic conditions and provides you with recommendations to keep the conditions under check. This includes: - Clinical Genetics Report - Pre - and post - test genetic counselling available - Recommendations and guidelines from our counselor. This may include other screening tests if any. A physician's summary or a genetic counseling session is necessary for accurate analysis. Sample Type: EDTA Blood / purified genomic DNA (2 ug) / dried blood spots TAT: 8-10 weeks

BabyMap BabyMap Newborn Screening brings advanced genetic technology to 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 100 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.

Some conditions covered:

  • 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 hyperplasia, 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

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