Genome Sequencing Procedure Overview

Please go to the above PROCEDURE tab to go to main site for educational content that Merogenomics recommends prior to purchase of any DNA test.


Step 1.2: Educate yourself

 Image of Process icon   General Overview

Consultation with a health care provider is not a prerequisite, however, it is highly recommended if the results of genomic sequencing will be used to obtain specific health related information.

A prospective client should first become familiar with the content of the Merogenomics website to learn about the genomic sequencing procedure and its purpose, and to gain genetics background. Merogenomics staff are available to answer any additional questions. The client will choose one of four target groups DNA tests and additional supporting products. Genetic counseling should be seriously considered prior to undergoing a genome sequencing procedure.

Merogenomics staff are available to answer any additional questions. The client will choose one of the four target groups of DNA tests and additional supporting products.

The client can purchase the DNA sequencing procedure of choice after signing an informed consent (which is the same as the test requisition form signed by the ordering physician). Relevant personal medical information applicable to the test will be obtained. The client’s payment information might also be collected at this time.

In the first step, a DNA test kit is sent to the client to obtain a saliva or blood sample, which will be used for DNA isolation and sequencing. For prenatal genome sequencing, a sample of the mother’s blood is necessary as it contains DNA of both mother and child. The blood sample must be drawn and sealed in a sterile container by appropriately trained health care personnel.

The next step is the DNA analysis of the obtained specimen. The DNA analysis comprises known and validated health risks and this information is delivered to the ordering physician along with the determined DNA sequence. Report information will be organized from most scientifically validated to least validated. Only information regarded to have sufficient scientific validation can be considered “clinically actionable". Access to genetic counselors can be requested to aid the client in data interpretation.

The data presented to the ordering physician can include diagnostic information without any further known medical course of action available (untreatable conditions), and “clinically actionable” information that allows the healthcare provider the opportunity to alter the medical management of the client/patient as necessary. The client can select whether information regarding untreatable conditions should be delivered in the results.

The client has an option of storing their genome sequence at a secure and private digital repository with an additional option for future genome reanalysis.


 Image of Consult icon    In-Person Interview

Each prospective client will have an opportunity to have an in-person interview with Merogenomics representative free of charge for a duration of 30 minutes to answer questions regarding the genome sequencing procedure. This should not be viewed as a genomic counseling session. Once the client has discussed DNA testing with her or his treating physician and is ready to sign the test requisition form, an additional 30 minute in-person interview will be scheduled to confirm that the client is familiar with the genome sequencing procedure protocols, to confirm the identity of the client (and that of the subject if the subject is different from the client), to confirm the accuracy of the collected data, and to provide an opportunity for the client to ask questions.

The meeting can take place via phone, internet, or in person if appropriate. Please use the link below to book your meeting.


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Image of Money icon Order Purchase

Payment for services offered through Merogenomics must be processed by fund transfer or credit card payment either directly to the service provider or to the nearest healthcare clinic distributing the test, depending on the type of DNA test required.

The timing of the payment will depend upon what type of DNA test is being considered for purchase. The majority of DNA tests will require an investment upfront, and some will need payment once the sample is present in the laboratory for assessment, thus long after the decision process is complete. The majority of tests can only be purchased via a healthcare clinic using available Merogenomics e-commerce site.

When applicable, tests can also be covered by insurance. The service provider can help each client with determining their eligibility for insurance. Service providers can also offer payment plans, or financial support depending on the DNA test type ordered. Merogenomics can also recommend a third party for monthly financing options.

  Image of BloodSample icon    Tissue Collection

Genome sequencing can be performed on a sample of blood or saliva, the sole exception being prenatal whole genome sequencing which requires a blood sample. A blood sample is preferable to a saliva sample as blood furnishes higher quality data. Although a saliva sample is a simpler option, saliva is susceptible to bacterial contamination, which can impact the accuracy of the genome sequence. For blood sample collection, kits need to be provided in a clinical setting via a doctor's order.

  • Blood sample collection

If blood is to be collected at medical center, approximately 5 ml of blood will be drawn by venesection by a trained medical professional, and sent to the sequencing facility. If a portion of the blood sample is not used in the procedure, it will be frozen and saved at the biorepository of the sequencing facility to act as a back-up for further genome sequence data generation in case the primary procedure fails.

  • Saliva sample collection

For the majority of genome sequencing procedures, a saliva sample is sufficient to obtain the required DNA (although a blood sample is preferred). A sample vial, a sterile swab, instructions for use, and an identification code for the subject of the genome sequencing will be sent to the client. The swab is used to collect a saliva sample from inside the subject’s mouth, and will be sent to a third party in an envelope provided. A small portion of the saliva sample will be frozen and saved at the biorepository of the sequencing facility to act as a back-up for further genome sequence data generation in case the primary procedure fails.

  • Cancer biopsy sample collection

Protocols and collection kits for cancer biopsy samples can vary among service providers. Paraffin embedded cancer samples are the most common, but alternatives will be suggested if they are deemed beneficial to the quality of the genome sequencing outcome.

Cancer biopsy samples are usually stored at the pathology laboratory that harvest the sample from a patient. The treating physician or oncologist can arrange for the pathology laboratory to deliver the sample to the genome sequencing facility, provided that sufficient quality and quantity standards are met. Otherwise a new biopsy sample may be required for the genome sequencing procedure.

  • Prenatal samples

For prenatal DNA testing, specific sample types are required, depending on the procedure type requested.

For non-invasive prenatal screening, only a maternal blood sample is required.

For invasive genetic testing, the most preferred sample option is of the amniotic fluid for the most direct access to an actual DNA source of the fetus, and this offers the smallest reported risk to pregnancy. The procedure of obtaining the amniotic fluid sample is referred to as “amniocentesis”, and is performed by a trained medical expert and will require a doctor's referral.

An alternative option is a chorionic villi sample obtained from the placenta. The placenta acts as a surrogate marker for fetal DNA, as both the fetus and the placenta originate from the same fertilized egg. However, in rare circumstances the placenta can exhibit its own unique DNA signature that is not present in the fetus, and therefore can lead to false positives. In addition, studies indicate that chorionic villi sampling carries a higher risk of pregnancy loss than amniocentesis. For these reasons amniocentesis is the preferred option for invasive diagnostic procedures.

  • Special circumstances

The client that has undergone an allogenic transplant such as bone marrow or a peripheral stem cell transplant will contain cells with more than one genome (their own genome inherited from parents, and the genome of the transplant donor). Such clients cannot provide a typical saliva or blood sample for DNA testing purposes due to the mixture of inherited germline and donor genomes in these samples. In some circumstances, a history of hematological disease might also prevent the ability to undergo DNA testing. In such circumstances, cultured fibroblasts might be the required sample in order to deliver the desired DNA testing.


   Image of DNA icon    Genome Sequence Generation and Interpretation

DNA isolation, DNA sequencing, and the interpretation of a subject’s genomic DNA are performed by third parties endorsed by Merogenomics Inc. These firms have set technical competency standards and demonstrated procedural analytical validity, and collaborate with leading academic and industry research institutions.

The procedure of whole genome sequencing commences with DNA isolation from the sample collected from the subject. The isolated DNA is broken up into millions of small fragments. Each fragment is joined to a specific tag and placed in a flow cell in a sequencing machine. The flow cell is populated with tags that are complementary to the tags on the DNA fragments, allowing DNA fragments to attach to the flow cell. Each individual DNA fragment is then multiplied (for enhanced signal measurement) into a population of identical pieces of DNA. Each DNA fragment is sequenced by providing one of four different possible DNA nucleotides that make up DNA, a single nucleotide at a time. Each nucleotide is attached to a specific fluorescent molecule to identify its presence on the DNA fragment being sequenced. All of the millions of small fragments are sequenced simultaneously. The decoded fragments are then pieced together into a whole genome sequence with a computer program and delivered to the client.

The higher the number of independent times a particular nucleotide base is read, the higher the accuracy that it was measured (also termed “called”) correctly at that location. This is also referred to as “read depth” or “coverage depth.” A certain minimum coverage depth is required as the acceptable threshold to be confident that the nucleotide base was called correctly.


   Image of Genetic Counseling icon   Genetic Counseling

Merogenomics Inc. recommends two genetic counseling sessions for clients who have their genomes sequenced. The first session should take place before the genome sequencing procedure; this session informs the client about the purpose of the test and its expectations. The second counseling session should follow the genome sequencing procedure and assists the client in interpreting the results of the test. 


Pretest Genetic Counseling

An important function of pretest genetic counseling is to prepare the client for the possibility of incidental findings in the genome sequence and the potential psychosocial impact of such findings. Pretest genetic counseling will entail a discussion of family medical history and disease inheritance (if applicable). The counselor will point out the limitations of the genome sequencing procedure, including error rates and the need for validation of any significant findings. The counselor will explain the significance of informed consent and describe how the results of sequencing can be used for diagnostic purposes for the benefit of the client and for research that could benefit the community.


Posttest Genetic Counseling

In posttest counseling, the client can expect an analysis and interpretation of any pathogenic results that might have been uncovered. Available management resources for individuals at risk of genetic disease (including access to support groups and educational material) will be proposed. A discussion of disease risk in the context of the subject’s immediate family (including the importance of sharing the results with at risk relatives) and the potential psychological implications of such disease risk will be undertaken. The potential impact of pathogenic variants (if they have been uncovered) on future reproductive decisions will be addressed.

Merogenomics Inc. can provide access to a genetic counselor for a fee.  

Counseling is provided by telephone or video; both methods have been shown to be practical alternatives to traditional face-to-face counseling. Counseling session is billed per one hour time slots.


Relationship Between Genetic Counselor and Physician

Genetic counseling is an independent service and is not included in what the ordering physician provides to the client. The ordering physician's role is to:

  • Properly accumulate evidence in favour of DNA testing, such as family and personal medical history, and then to order the test for the client by filling in and signing the test requisition form
  • Receive the DNA test results on behalf of the client/patient and deliver the results to the client/patient in the context of their medical history
  • Develop a medical management plan in the context of considering one’s existing medical history and their DNA test findings
  • Send the client/patient to a genetic counselor (if DNA testing is obtained privately outside of healthcare system, this option might not be available and the client/patient will have to seek independent access to genetic counseling)
  • Adapt a medical management plan based on the genetic counselor’s report


A genetic counselor will play very different role from the physician and will be able to address the DNA test results for the following purposes:

  • To inform the patient/client about the risk of disease development and potential outcomes, along with determining the risk of inheritance by future generations
  • Assess the proposed medical management by the ordering physician for an appropriate fit to a given condition


If pathogenic or likely pathogenic variants are reported to the physicians, all physicians should require their patients to see a genetic counselor. This is also true if a couple planning to have children discover they are carriers of mutations in the same genes which are linked to disease development.

Pharmacogenetic information might also need a genetic counselor’s oversight for certain niche medical specialties such as cancer, or neurological conditions.

  Image of Protection icon  Preserving Confidentiality

Service providers  of the DNA tests take all reasonable efforts to protect the privacy of the information and samples provided by the client and the confidentiality of the data generated. All data and information will be encrypted, password protected, and stored in a cloud. All tissue samples will be stored in a safe biorepository until they can be safely discarded. DNA testing service providers will not distribute private and sensitive information to third parties without the agreement of the client.

The confidentiality of client information and genome sequencing and analysis data cannot be absolutely guaranteed in the event of unintended data breaches such as hacking or other unforeseen events. 

A statistical database containing all the information accumulated by the service providers of DNA tests, including genomic data statistics, will be maintained for informative and developmental purposes. Such information will be without reference to and cannot be utilized to identify any individual. Examples of the type of information included in the database are: the number of pathogenic variants identified among clientele, the average age of clientele, frequency of male vs. female purchases. Collected data from many persons might be published or used for teaching purposes for the propagation of scientific knowledge without revealing any information that could lead to individual identification. Data from a single individual will be published only with approval from that person, and in a way in which the published information cannot lead to an identification of the individual involved.




Step 2: Book your FREE consultation




Select target group for DNA testing

  • Healthy icon

    Healthy screening

  • Undiagnosed Diseases icon

    Undiagnosed diseases

  • Cancer icon


  • Prenatal icon



Or select popular DNA test

  • Pharmacogenetics icon

    Pharmacogenetic gene panel

  • NIPT icon

    Non-invasive prenatal screening

  • Cancer icon

    Cancer predisposition gene panel

  • Genome icon

    Full genome