1 in 100 newborns are born with an inherited genetic condition
Around 30% of the infant mortality is because of genetic disorders
Over 50 Lakh people in India are affected with Single Gene Disorders

  • Couple Carrier screening is a standard genetic screening practice recommended during planning a family. Using a simple saliva or blood sample, the genetic test ‘screens’ your genetic makeup.
  • It Detects one or more gene mutations that could be passed down to your offspring.

The result will tell you if you have one or more gene mutations that could be passed down to your offspring.

Who is a Carrier of a Genetic Condition?

Many genetic conditions are inherited in mostly two patterns:

    1. Dominant – In the dominant condition, there is one copy of  a specific mutation that can cause the disease. Carriers of the dominant mutation may experience symptoms at some point in their lives and can pass the mutation to their children.
    2. Recessive – This requires both the copies of the gene to be mutated to cause the disease. This means that if someone is affected in the recessive pattern, one of the copies must be inherited from the mother and another mutated copy must be inherited from the father.

Carriers of recessive conditions do not have symptoms and in most cases are not aware that they are carriers of a specific condition and can pass the genetic mutation to their children. If both parents are  carriers of the same recessive mutation, their children are at high risk of inheriting both copies of the mutated genes and therefore getting affected by the disease.

When Is It Recommended?

  • Either partner having a history of genetic conditions in the family
  • Recurrent pregnancy loss
  • Abnormal antenatal scans
  • Case of consanguineous marriage
  • Certain ethnic groups are prone to certain conditions
  • Couples opting for IVF

TARGET CONDITIONS FOR SCREENING

Beta Thalassemia, Cystic fibrosis, Sickle Cell Anemia, CAH, SMA, CH, DMD, Hemophilia A and B, Hunter Syndrome, G6PD, X Linked Mental retardation

TAT:- 15 working days

METHODS OF SCREENING

  •     MLPA
  •     Next Generation Sequencing

PACKAGES FOR SCREENING

  • 100 Genes – BASIC
  • 200 Genes – ADVANCE
  • 300 Genes – PREMIUM

One Stop Solution For All Your Sequencing Needs

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