WholeSeq – Whole Genome Sequencing

What is WholeSeq (WGS)?   

WholeSeq is a comprehensive clinical grade DNA test that utilizes Whole Genome Sequencing approach to help identify genes responsible for a suspected clinical condition.

Your genome contains the codes of your life. WholeSeq helps you look into any changes or ‘mutations’ occurring not just within the functional parts or ‘genes’, but also into the other potentially relevant non-coding regions as well (deep intronic, untranslated regions, etc), thus helping provide more reliable coverage of the exome itself. You can go back to your genomic data at any time to look for additional insights if new medical concerns arise in the future.

How does Whole Genome sequencing help in diagnosis?   

Unlike Whole Exome Sequencing or Clinical Exome Sequencing, WholeSeq covers both the coding and non-coding regions of the ~20,000 genes in a single test. Using Next Generation Sequencing Technology (NGS), WholeSeq aids in the diagnosis of highly penetrant genetic conditions and syndromes.

By covering all the coding and non-coding regions, WholeSeq analyses mutations in single nucleotide variants (SNVs), small insertion/deletion events, copy number variants (CNVs), mitochondrial SNVs, and short tandem repeat (STR) expansions associated with a genetic disease.

Who should get WholeSeq test done?          

Individuals diagnosed with and/or suffering from a genetic condition presenting with various ages of onset, severity and family history of genetic disease

Those suspected of being a ‘carrier’ of a genetic disease and want to plan preventive measures for risk reduction or elimination

Those with a previous ‘negative’ test result, no confirmed clinical diagnosis and still suspected of a genetic condition

Individuals suspected of more than one gene mutations

Those advised a ‘pharmacogenetic test report’ – a personalized DNA Drug sensitivity Test report which determines how individuals might react to specific medications.

Which Test Package is suitable for you?      

Agiomix offers flexible options depending on the clinical requirement.

WholeSeq Solo: Test for affected individual (proband) only.

This test is performed for an affected individual (proband) with usually no family history of the disorder but having clinical features pointing towards a genetic condition or syndrome.

WholeSeq Trio: Test for affected individual (proband) and both parents.

This test is performed for an affected individual with either a family history of the disorder or parents suspected to be carriers of the condition.

How the report will help you?

We work with an experienced team of experts in the genomic field so that we can provide you a full report with the final diagnosis.

Your genomic report will be in easy, understandable terms so that you may be able to understand the interpretation of your genomics findings

Our medically actionable WholeSeq reports can help your referring clinician to use this information to provide you better advice and guide you towards informed decision-making to help you make the lifestyle change of your choice and minimize risks or future health conditions associates with the genetic disease.

Pre & Post-test counselling   

Scheduling an appointment for Genetic Counselling before and after a genetic test is highly recommended as it helps one understand the advantages and the limitations of the test. Most importantly the interpretation and the potential outcomes of the result can be discussed elaborately.

Genetic counselling can help to clear out misconceptions related to the test and its outcomes. Genetic conditions can be well-managed with the proper multi-disciplinary approach towards management of the clinical manifestations of the disease. Since the management of genetic conditions is usually ‘symptomatic’ (i.e. addressing the clinical symptoms that occur because of the genetic disease), it requires the inputs of several clinicians together, which the Genetic Counsellor helps to collaborate. Genetic Counsellors offer all the information about the pros and cons of the test so that an informed choice can be made by the patient before agreeing to the test.

Agiomix has a genetic counsellor available for pre-test and post-test genetic counselling service.

How soon you will get your results?  

Turnaround time is 6 – 8 weeks

Which Types of Sample we accept? 

Agiomix accepts the below type of samples for testing:

  • Blood
  • DNA extracted from blood