Understanding the Genome and Relevance of Exome
The genome consists of the genetic material and in humans; the introns are spliced out to form an exome which consists of only the exons. The whole exome chromosomal microarray test help with prenatal analysis for the presence of any chromosomal aberration in the growing fetus. The chromosomal microarray helps with measuring the gain and loss of chromosome while screening through the chromosome.
The whole exome test is a single test that helps in detecting multiple genetic disorders and is done with help of high tech advanced sequencing machines. The test is conducted by drawing a sample of blood and extracting the DNA for analyzing the exome. The test helps in detecting several complex disorders, a range of Mendelian disorders etc.
How Does Exome Testing Help?
The whole exome sequencing helps in analyzing each of the 21000 genes in the exome sequence. Even a minute change or abnormality in the exome can lead to a genetic abnormality and chromosomal disorder. Next-generation sequencing helps in even detecting germline mutations located within the exome.
- The whole exome sequencing genetic test helps in screening through the exons for finding out the mutated gene responsible for causing disease.
- It helps with detecting single nucleotide variants and micro changes like insertion and deletion with sequences, resulting in phenotypic and genotypic changes.
- It even helps in finding the root cause for genetic syndrome in children related to developmental delay or diminished intellectual ability.
- The whole exome helps with screening for the presence of recessive chromosome change or gene sequence mutation in asymptomatic parents.
Doctors mostly recommend the test for individuals with certain signs and symptoms indicating genetic disorders. It is suitable for people with a family history of genetic disorders to check if there is any predisposition or mutation that can lead to a potential genetic condition. The exome screening offers targeted genetic covering and hence screens for protein-encoding exon sequence.
Pre-genetic counselling help families and individuals understand the test and its relevance. The post genetic counselling decides the next course of action and personalized treatment for the positive test result.
What is the whole exome sequencing test price in India?
It provides coverage of all the exons and offers nearly 97 to 99% accuracy with result production. The test can be conducted across some of the best diagnostic labs across India at an affordable cost. The whole exome test cost starts from Rs 22,000 which screens through the entire exon. Most of the diagnostic labs even accept insurance for the test.
It is easy and convenient to book genetic tests in any of the labs with the available sequencing service. All the information remains confidential throughout the entire process. The test cost has been reduced as unlike the traditional whole-genome sequence; it requires sequencing of only the exome which is roughly 1% of the entire genome.
