Rating:
100 % of 100
₹35,000.00
Reward PointsEarn 100 points for writing a review for this product
Mapmygenome now offers Exome Sequencing for genetic diagnosis and clinical interpretation. With high-precision reporting, detailed analysis and easy-to-read reports, this service empowers you to make the right decisions for diagnosis and/or treatment.

This includes:

  • 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

note

To Diagnose the disease -causing variants associated with the suspected cases.


differential

Differentiation between de novo(new unexplained mutations) and familial history of disorders.


influence

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

High density screening for ~750 genetic conditions of clinical significance.


750000-dna

Detailed analysis for all known autosomal recessive conditions, including international recommendations from ACOG, ACMG.

copy-neutral

Efficient bioinformatics analysis of variants and interpretation workflows.


Chromosomal Microarray genotyping

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

Sample Collection

Your Doctor places a request for the test. The sample is tested for the susceptibility.

lab

Lab Processing

The sample processed using NGS Technique.

analysis

Data Analysis

Your genetic sequence is subjected to extensive analysis to extract your health information.

report

Report Generation

Our team generates a comprehensive report based on genetic findings, reviews the report, and shares it with your doctor via email.

Write Your Own Review
You're reviewing:Whole Exome Sequencing
Your Rating

Whole Exome Sequencing

1. What is exome sequencing?

2. When should whole exome sequencing be considered?

3. Is my WES report kept confidential?

4. Is it possible to get a copy of the raw data?