BabyMap carrier screening provides you and your physician with information regarding your reproductive risks and how they may impact your future children. By determining each parent’s carrier status, couples planning a pregnancy can identify their chance for having a child with a genetic condition. Our genetic counselors are with you every step of the way.
Key benefits for parents-to-be and those planning a family:
- Early detection of 71+ metabolic conditions with successful treatment options
- Genetic counseling to understand carrier status and to chart out an informed plan for pregnancy management
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