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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.
TThe 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
X-linked Recessive
CLINICAL UTILITY
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.
MAPMYGENOME OFFERINGS
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 (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.
