Diagnostic Tests

Baby Map - Couple And New Born Screening Blood


Baby Map - Couple And New Born Screening Blood

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What is this test?

Single and Couple and is available in the case a single gene needs to be sequenced and tested to ascertain clinical relevance of a mutation or to confirm a diagnosis for a condition. Examples include beta-thalassemia, cystic fibrosis, Duchenne-becker muscular dystrophy, etc.

BabyMap Carrier Screening provides the patient and the physician with information regarding the patient’s reproductive risks and how they may impact their 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 help them plan and are with them every step of the way. BabyMap Newborn Screening on the other hand, gives information about the acquired conditions of a newborn baby. It tests for 171 (4000+ markers spanning over 106 genes) conditions which include inborn errors of metabolism (Organic Acid Disorders, Fatty Acid Oxidation Disorders, Amino Acid Disorder, Endocrine conditions and others) and others such as thalassemia and SCID. Most of these conditions do not manifest themselves until a few months after birth – by which time the metabolic system of the baby is heavily compromised. Early detection and management is the key and BabyMap brings value there. BabyMap NIPT (Non-invasive prenatal testing) looks at chromosomal abnormality for the unborn foetus. It covers conditions like Down’s Syndrome, Edwards’ Syndrome, Patau’s Syndrome and other X and Y linked chromosomal abnormalities. NIPT is recommended as a first-line test to avoid routine prenatal (amnio/CVS) testing. Risk factors found, if any, would need to be confirmed through follow up amnio/CVS testing.

Test Preparation

No special preparation is needed for Baby Map - Couple And New Born Screening Blood. Inform your doctor if you are on any medications or have any underlying medical conditions or allergies before undergoing Baby Map - Couple And New Born Screening Blood. Your doctor depending on your condition will give specific instructions.

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