MatchmyGenome Couple Carrier Screening

Carrier screening is no longer a “nice-to-have”; it’s now best practice — regardless of ethnicity and screening strategy. ACOG recommends carrier screening for all patients either preconception or during pregnancy1 Over 7000 diseases are thought to have single-gene inheritance, and more than 15% have a genetic cause established to be "recessive"2

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 variants1

Why carrier screening?

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.

Autosomal Recessive

X-linked Recessive

Common genetic disorder screened

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

And many more

Clinical Utility

  • To diagnose carrier status for autosomal recessive and X linked 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 it recommended

  • Individuals or couples before pregnancy (preconception carrier screening)
  • Individuals or couples prior to getting married (premarital 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 and relatives of identified carriers, or to the partners of people with the disease.

MapmyGenome - Offerings

  • Powerful NGS panel on globally recognised Illumina Platform
  • High-density screening of approximately 2000+ genetic conditions.
  • Genetic counseling (pre- and post-test) with recommendation for families (includes pedigree analysis)
  • Detailed analysis for all known autosomal recessive conditions, including international recommendations from ACOG, ACMG and ICMR

Test specifications

Technique Coverage Variant types TAT Sample requirements
NGS 150-180X SNV, CNV 3-4 weeks 2-4 mL EDTA blood from each partner
1-2 µg purified DNA from each partner


  1. Gregg, Anthony R., et al. "Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)." Genetics in Medicine 23.10 (2021): 1793-1806.
  2. Bajaj, Komal, and Susan J. Gross. “Carrier Screening: Past, Present, and Future.” Journal of Clinical Medicine vol. 3,3 1033–1042. 15 Sep. 2014, doi:10.3390/jcm3031033


When should I consider carrier screening?

Many couples prefer getting tested for their carrier status before they try to conceive. This helps them understand their own status and the potential risk of genetic conditions for their future offspring. Additionally, couples have the option to undergo carrier status testing during the early weeks of pregnancy. If there is a genetic risk identified for the offspring, this information is communicated to the parents, and alternative options are planned accordingly.

If I am a carrier, what are my options?

What is the chance I could have an affected child if I am a carrier?