MatchMyGenome

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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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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?

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 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 the test 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	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

References

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.
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