MatchmyGenome Couple Carrier Screening

Matchmygenome - Couple Carrier Screening

Carrier screening has become an essential part of modern reproductive health. With advancements in genetic testing, determining the risk of passing genetic disorders to future generations is no longer an option, but best practice, especially for couples planning to conceive. The American College of Obstetricians and Gynecologists (ACOG) recommends carrier screening for all patients either preconception or during pregnancy. This recommendation stems from the fact that over 7,000 diseases have single-gene inheritance, and approximately 15% of these conditions are inherited in a recessive manner.

Matchmygenome is a comprehensive couple carrier screening test designed to assess the genetic compatibility of partners before conception. It helps couples understand their carrier status for various common genetic disorders, enabling them to make informed reproductive decisions. Using high-resolution Next Generation Sequencing (NGS), Matchmygenome screens for potential pathogenic genetic variants, making it a critical tool in preconception planning.

Why Carrier Screening?

Carrier screening is essential because every individual, on average, carries 6-7 non-working genes that can cause severe genetic disorders. These genes may not cause health issues in carriers, but if both parents carry mutations in the same gene, there is a 25% chance their child will inherit the disorder. This is particularly concerning for recessive genetic conditions, where both gene copies need to be faulty for the disease to manifest.

Even without a family history of a specific condition, individuals can carry a gene mutation. Carrier screening identifies potential genetic risks, helping couples plan for a healthy family. This is particularly important if:

Carrier screening is especially beneficial for consanguineous couples, those from similar ethnic backgrounds, or those with a known history of genetic disorders.

Common Genetic Disorders Screened

Matchmygenome screens for a variety of genetic disorders, including but not limited to:

Autosomal Recessive Disorders Hunter Syndrome
X-Linked Disorders Congenital Adrenal Hyperplasia
Beta Thalassemia G6PD Deficiency
Duchenne Muscular Dystrophy Spinal Muscular Atrophy (SMA)
Sickle Cell Anemia X-Linked Mental Retardation
Hemophilia A/B Congenital Hypothyroidism
Cystic Fibrosis  


Clinical Utility

The clinical benefits of Matchmygenome’s Couple Carrier Screening include:

When is Carrier Screening Recommended?

Carrier screening is recommended in several situations, including:


MapmyGenome - Carrier Screening Offerings

Matchmygenome provides a state-of-the-art carrier screening service with the following features:

  1. Advanced NGS Panel: The test utilizes a globally recognized Illumina platform to deliver high-density screening for over 2,000 genetic conditions. The panel is comprehensive, offering a wide scope of genetic insights into potential carrier status.
  2. Genetic Counseling: Pre-test and post-test genetic counseling is provided, ensuring that couples fully understand the implications of their test results. The counseling includes pedigree analysis to trace genetic conditions within the family and personalized recommendations.
  3. Detailed Analysis: The screening covers all known autosomal recessive conditions and includes analysis according to international recommendations from ACOG, ACMG, and ICMR, ensuring the results are reliable and actionable.

Test specifications

Technique

Platform

Coverage

Variant types

TAT

Sample Requirements

NGS

Novaseq 6000 or equivalent

150-180X

SNV, CNV

3-4 weeks

2-4 mL EDTA blood from each partner

1-2 µg purified DNA from each partner

 

Learn more:

Read: Discover More About Carrier Screening - Future-Proof Your Family

Listen: The Importance of Couple Carrier Screening

Watch: How Couple Carrier Screening Can Shape Your Family’s Future

FAQs




What is Couple Carrier Screening?

Couple Carrier Screening is a genetic test that identifies whether individuals carry genetic mutations that could be passed on to their children. It helps prospective parents assess their risk of having a child with a genetic disorder that is inherited in an autosomal recessive manner.

Why should my partner and I undergo Couple Carrier Screening?

What genetic conditions can be screened for?

How is the Couple Carrier Screening performed?

When is the best time to undergo Couple Carrier Screening?

How accurate is Couple Carrier Screening?

What happens if both partners are carriers for the same condition?

Can this panel identify all neurological conditions?

Are there any risks or side effects associated with the screening?

Will my insurance cover the cost of Couple Carrier Screening?

How will I receive my results, and what should I do next?