CARRIER TESTING

CARRIER TESTING

HBB Gene Sequencing Test :

LifeCell Diagnostics full HBB gene sequencing methodology detects all the commonly reported mutations in the Indian population and any other listed pathological mutation in one test. Additionally, the assay potential extends to detecting any novel mutations and mutations causative of Sickle Cell Anaemia.

Test Methodology:

Sanger sequencing-based DNA analysis is performed to analyse for all mutations in the coding regions and reported mutations in the non- coding regions of beta haemoglobin gene (HBB). Identified sequence alterations are reported in accordance with the Human Genome Variation Society (HGVS) nomenclature and annotated using one or more of the following database/s - ClinVar, OMIM, HGMD and, SwissVar.

When there is a mutation in the survivor motor neuron gene 1 (SMN1), it can lead to SMA or Spinal muscular atrophy. If you take a healthy individual, this gene yields a protein, which is crucial for all the nervous functions that is responsible for the muscle control of the human system. Without this protein, the nerve cells do not carry on their duties as they are supposed to, which leads to death because of debilitating and lethal muscle weakness. SMA affects 1 in 11,000 babies. There are four general stages of SMA, i.e. I, II, III, and IV based on the age, when the disease started and the highest physical achievement.

People suffering from this condition find it difficult to even breathe or swallow. But, it does not interfere with the ability to think, learn or formulate relationships with other people.

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