- Babymap Carrier Screening
About Babymap™ Carrier Screening
Carrier screening provides you and your physician with information about your carrier status for genetic conditions that can be passed to your future children. Knowing one’s carrier status allows you to:
Genetic carrier screening is recommended by professional medical authorities.
Umm... what is a carrier?
Every person is a carrier for an average of 1- 2 non-working genes that can cause severe genetic disorders. Carriers are healthy and do not typically have family history of disease. As a result, it is common for individuals to be unaware of their carrier status. Identifying one's carrier status is important while planning to have a baby as this has direct implications for the health of your child. If both parents are found to be carriers of the same disease, they have a 1 in 4 chance of having an affected baby (for autosomal recessive disorders) and may choose preconception or prenatal genetic testing to make informed decisions during pregnancy. The diagram below demonstrates the inheritance pattern of an autosomal recessive disorder.
Anyone can have carrier screening perform regardless of race, ethnic background, or country of origin. Some genetic conditions are more common in certain ethnicities. However, many people are unsure of their exact genetic heritage. Carrier screening is available to all who want more information about their genetic carrier status.
It's important to know if you're both carriers
How is it done?
Your genetic report is prepared and shared with you. Your genetic counselor will be available to discuss your results with you at a time convenient for you.
What are the conditions covered in BabyMap?
BabyMap covers 171 developmental, genetic, and metabolic disorders and conditions
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 and more...
Endocrine / Hemoglobin Conditions
- Congenital adrenal hyperpalsia
- Primary congenital hypothyroidism
- Beta thalassemia
- Sickle cell anemia (S,S Disease)
- Sickle cell disease (S,C Disease) and more...
Amino Acid Disorder Conditions
- Benign hyperphenylalaninemia
- Maple syrup urine disease
- Tyrosinemia and more...
Fatty Acid Oxidation Disorder Conditions
- Glutaric acidemiay
- Trifunctional protein deficiency
- Barth Syndrome
- Lethal neonatal CPT2 deficiency and more...
- ADA Severe combined immunodeficiency (Adenosine deaminase)
- Biotinidase deficiency
- Cystic fibrosis
- Nonsyndromic deafness (Hearing loss)
- X-linked Severe combined immunodeficiency
- Fabry disease (GLA deficiency)
- Glucose-6-Phospohate Dehydrogenase Deficiency
- Mucopolysaccharidosis type 1
- Niemann-Pick disease
- X-linked adrenoleukodystrophy and more...