Matchmygenome (Comprehensive Couple Carrier Screening on Whole Exome)

The Matchmygenome (Comprehensive Couple Carrier Screening on Whole Exome) test is a comprehensive genetic test that determines carrier status for common genetic disorders in couples, helping assess the risk of passing on genetic conditions to future offspring.

Carrier screening is a crucial genetic test recommended by ACOG for all individuals either preconception or during pregnancy. This test identifies if an individual carries one copy of a mutated gene associated with recessive genetic disorders. Carrier screening is essential because carriers are typically healthy individuals with no symptoms, making it challenging to identify potential risks without testing. The MatchmyGenome Couple Carrier Screening uses high-resolution Next-Generation Sequencing (NGS) to detect pathogenic variants, providing valuable insights into carrier status and aiding in informed reproductive planning.

The Matchmygenome (Comprehensive Couple Carrier Screening on Whole Exome) test 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.

On an average, every individual is a carrier of 6-7 non-working genes that can cause severe genetic disorders. Every individual has two copies of each gene in their DNA - one copy from each parent. A carrier is usually a healthy individual with no symptoms of the disease/ disorder. They usually have one copy of the normal/ functional gene and one copy of the mutated gene, due to this reason many individuals aren’t tested for carrier status. They might or might not have a significant family history of a particular condition.

Identifying one‘s carrier status is important while planning to have a baby or while you plan to get married as this has direct implications for the health of your 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 in each pregnancy.

Panels Covered:

The Matchmygenome (Comprehensive Couple Carrier Screening on Whole Exome) is a comprehensive screening for over 2000 genetic conditions, including:

• Autosomal recessive disorders: Beta thalassemia, Sickle cell anemia, Cystic fibrosis, Congenital Adrenal Hyperplasia, Spinal Muscular Atrophy, Congenital Hypothyroidism, and many more.
• X-linked disorders: Duchenne Muscular Dystrophy, Haemophilia A/B, Hunter Syndrome, G6PD Deficiency, X-Linked Mental Retardation, and more.

Who Should Get Tested?

• Individuals or couples before pregnancy (preconception carrier screening).
• Individuals or couples prior to marriage (premarital carrier screening).
• Consanguineous couples or couples from the same community or ethnic group.
• Couples with a child suffering from a Mendelian disorder planning to have another child.
• Couples with a history of miscarriages, recurrent pregnancy loss, infertility, or hereditary syndromes.
• Couples and relatives of identified carriers or partners of individuals with a genetic disease.

What Does the Report Tell Me?

The report provides detailed insights into carrier status for autosomal recessive and X-linked recessive genetic disorders. It identifies if an individual is a carrier of any genetic variants, differentiates between new unexplained mutations and familial history of disorders, and clarifies the clinical significance of detected variants. The report aids in understanding the potential genetic risks for future offspring and informs about the likelihood of having an affected child.

Next Steps Post Getting the Report:

After receiving the carrier screening report, the following steps are recommended:

• Schedule a genetic counseling session to interpret the results and understand the clinical implications.
• Discuss reproductive planning options with healthcare providers, including prenatal testing, assisted reproductive techniques, adoption, or surrogacy.
• Consider lifestyle and medical interventions based on the genetic insights provided in the report.
• Utilize the free genetic counseling available post-test to navigate the results and make informed decisions about family planning and managing potential genetic risks.

Note: Pre-test & post-test genetic counseling can be provided. If interested please send the request to this email id: [email protected]