Carrier Screening For Couples

In every 100 couples, 1-2 couples are at risk of having a child affected with one of 1300 recessive genetic disorders. ACOG recommends that information about carrier screening should be provided to every pregnant woman. If both partners are found to be carriers of a genetic condition, genetic counseling should be offered which discusses preimplantation and prenatal options. GeneTech's scientific and counseling team's seamless support to physicians makes it easy to integrate genetic screening in medical practice.

GeneTech Carrier Screening

Carrier screening is a blood test performed on healthy adults to determine whether they carry a recessive gene mutation that could cause disease in their children.  GeneTech offers three flexible carrier screening tests using technology platforms such as qPCR, MLPA, Sanger sequencing, SNP Microarrays and NGS.

S.No Test name TAT (Days)
1 Basic Carrier Screening (Only most common recessive disorders) 15
2 Extended Carrier Screening (Common Inherited diseases) 15
3 Comprehensive Carrier Screening 15

Sample Collection:
Peripheral Blood: 3ml in PURPLE TOP (EDTA) Vacutainer
Transport within 48 hrs at room temperature

Basic Carrier Screening Panel:

The test identifies carrier status for common mutations of widely prevalent autosomal recessive genetic conditions in Indian population (Beta Thalassemia, Cystic Fibrosis, etc.)

Extended Carrier Screening Gene Panel:

The test determines carrier status for >50 autosomal recessive genetic disorders common in Indian  population. In addition, the test will also rule out carrier status of Duchenne Muscular dystrophy, an X linked recessive disorder in female partner.

Comprehensive Carrier Screening Gene Panel:

The most comprehensive carrier screening of GeneTech analyses more than 3500 genes for covering risk for >90% autosomal recessive disorders. In addition, the test will also rule out carrier status of Duchenne Muscular dystrophy, an X linked recessive disorder in female partner.