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- Clinical report for genetic diagnosis
- Personalised Genetic Counseling session (~45 mins)
- Recommendations and guidelines from our counsellor. This may include other screening tests if any.
A physician's summary or a genetic counseling session is strongly recommended, to enable accurate analysis and interpretation.
What is Whole Exome Sequencing?
Whole Exome Sequencing (WES) is a technique for sequencing the exonic regions on the DNA. Exome comprises about 1-2% of the whole GENOME, CODES FOR ~23,000 GENES IN HUMANS. Being the protein coding region, ~85% OF disease-causing mutations in Mendelian disorders and many disease-predisposing SNPs are clinically associated with the exomes, sequencing the entire exome can provide detailed insights on the genetic variations.
CLINICAL UTILITY
To Diagnose the disease -causing variants associated with the suspected cases.
Differentiation between de novo(new unexplained mutations) and familial history of disorders.
To influence the management of the conditions/disorders in a better way including lifestyle interventions.
When is WES Recommended?
- Molecular Diagnosis - identify the variations in the exon regions, variants of a disease or disease-causing mutations associated in suspected cases.
- Undiagnosed Conditions - In cases where no diagnosis has been made, but clinical presentation is suggestive of a genetic condition.
- Detect disease-causing heterozygous variants in genes associated with autosomal dominant conditions, homozygous/compound heterozygous variants in genes associated with autosomal recessive conditions.
- Test for single-gene and multigene conditions. Ideal for targeted management of complex syndromes. - neurodevelopmental disorders, intellectual disability, global developmental delay, autism spectrum disorder.
- To end the Diagnostic Odyssey.
- Provide accurate recurrence risks for family members & prognosis.
MAPMYGENOME - OFFERINGS
High density screening for ~750 genetic conditions of clinical significance.
Detailed analysis for all known autosomal recessive conditions, including international recommendations from ACOG, ACMG.
Efficient bioinformatics analysis of variants and interpretation workflows.
Extensive coverage of all genes in human genome ~23000 genes, with 100-120X coverage.
Genetic counselling - to guide through the report and discuss the availability management/treatment options in case of clinical findings.
How Does it Work?
Sample Collection
Your Doctor places a request for the test. The sample is tested for the susceptibility.
Lab Processing
The sample processed using NGS Technique.
Data Analysis
Your genetic sequence is subjected to extensive analysis to extract your health information.
Report Generation
Our team generates a comprehensive report based on genetic findings, reviews the report, and shares it with your doctor via email.
