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This is Mapmygenome’s comprehensive couple carrier screening test. Ideal for preconception screening, MatchMyGenome can be used to determine the carrier status of common recessive genetic disorders in both the partners to estimate the risk of disease in their future children. Reporting is as per guidelines set down by the American College of Medical Genetics (ACMG), and the report is supplemented with pre-test and post-test genetic counselling to further the value of the test for the customer. Over 2000+ genes associated with known autosomal recessive and X-linked recessive diseases can be analyzed for comprehensive carrier screening. Apart from the customers, this test also empowers health practitioners to be able to provide suitable reproductive counseling and options.

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What is Matchmygenome?

Matchmygenome is a comprehensive Couple Carrier Screen ideal for preconception screening, to determine the carrier status of common genetic disorders in the couple to estimate the risk of passing on a genetic disorder to their future offspring.

The high-resolution screening for genetic variants by NGS is recommended as a first-tier genetic test to screen for suspected pathogenic variants.

Why Screen for Carrier status?

30 in every 10000 children have an inherited genetic condition with symptoms ranging from very mild to severe.

Over 7000 diseases are thought to have single-gene inheritance, and more than 15% have a genetic cause established to be "recessive"

On an average, every individual is a carrier of 1-2 non-working genes that can cause severe genetic disorders. Every individual has two copies of each gene in their DNA - one copy from Mom and one from Dad.

  • A carrier has one working copy of a gene and one non-working copy. Carriers are typically healthy, having neither symptoms nor family history of the disease, as a result it is common for individuals to be unaware of their carrier status.
  • Identifying one's carrier status is important while planning to have a baby as this has direct implications for the health of the child. If both parents are found to be carriers of the same disease, they have a 1 in 4 chance of having an affected baby

Autosomal Recessive

Autosomal Recessive

X-linked Recessive

X-linked Recessive



To diagnose carrier status for autosomal & recessive genetic disorders


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


To clarify the clinical significance of copy number changes


To influence the management of the conditions/disorders in a better way including lifestyle interventions.

When is the test recommended?

  • Individuals or couples before pregnancy (preconception carrier screening)
  • A consanguineous couple or couple belonging to the same community or same ethnic group.
  • Couple has a child suffering from a Mendelian disorder and who are planning to have another child.
  • Couple with history of miscarriages, recurrent pregnancy loss, infertility, hereditary syndromes
  • Couple with a family history of a particular recessive disease or a Mendelian disorders
  • Couple and relatives of identified carriers, or to the partners of people with the disease.



Powerful NGS panel on globally recognised Illumina Platform


Extensive coverage of all genes in human genome ~23000 genes, with 100-120X coverage


Copy neutral loss of heterozygosity (Cn-LOH) region detected based on intensity & SNP genotype in order to screen for UPD (Uniparental Disomy) & autosomal recessive disorders.


High-density screening for ~750 genetic conditions

Genetic counselling

Genetic counselling (pre- and post-test) with personalized recommendation for families (includes pedigree analysis)


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

Test sample requirements


2-4 mL EDTA blood from each partner


1-2 µg purified DNA from each partner

How Does Matchmygenome 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 and a report is generated based on the genetic findings


Genetic Counseling

Our genetic counselor will discuss your results at a time and day convenient for you.

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1. Why test for inherited conditions?

2. If both my partner and I are carriers of a genetic illness, what options do we have?

3. Is my carrier screening report kept confidential?

4. What are the most Common Genetic Disorders in India?

5. What is the right time to get a carrier screening done?