MedGenome is driven to enable clinicians to deliver the best outcomes to their patients. Our passion to deliver actionable insights to clinicians has resulted in the development of “Claria” - a suite of NGS (Next-Generation Sequencing) technology-based solutions for reproductive testing. Claria offers the most accurate Non-Invasive Prenatal Screening Test (NIPT), the Genetic Carrier Screening Test and the Preimplantation Genetic Screening/Diagnosis (PGS/PGD).
In addition to this Claria now offers not just advanced NGS based tests but also routine prenatal diagnostics and cytogenetic tests
When a couple is planning for a pregnancy, it’s important that they know all they can, about the wellness of their future family.
With state-of-the-art technology, high detection rates and an unparalleled service model, the Claria Carrier Screening Test from MedGenome can help couples understand and plan better for the future. The Claria Carrier Screening Test is a comprehensive screening test that screens for genetic disorders and has the power to detect disease causing mutations in over 2000 genes. Claria is based on the best in class NGS and MLPA technologies, and provides your patients with the most accurate and comprehensive information they need when they are preparing for their pregnancy.
|Autosomal Recessive Disorders||X-linked Recessive Disorders|
|Beta Thalassemia||Duchenne Muscular Dystrophy|
|Sickle Cell Anaemia||Haemophilia A/B|
|Cystic Fibrosis||Hunter Syndrome|
|Congenital Adrenal Hyperplasia||G6PD Deficiency|
|Spinal Muscular Atrophy||X-Linked Mental Retardation|
A couple can get tested in the following situations
Carrier testing helps determine one’s carrier status, and is an important step of the family planning process.
The Claria Carrier Screening Test is recommended for all couples planning for a pregnancy. However, the test is strongly recommended in the following cases:
The Claria Carrier Screening Test is based on Next-Generation Sequencing (NGS) and Miltiplex Ligation Probe Amplification (MLPA) technologies. This enables you to detect disease-causing mutations in over 2000 genes which are responsible for the Autosomal Recessive and X-Linked Recessive genetic disorders.
Next-Generation Sequencing is a best in class and superior technology to detect all common and rare disease-causing mutations while MLPA is used to detect deletion and duplication in specific genes (SMN, DMD, CYP21A2)
Our team of experts adhere to the recommendations ofthe American College of Medical Genetics and Genomics (ACMG).
With three different panels available (Silver, Gold and Platinum), the Claria Carrier Screening test offers the option of selecting the version that is best suited to the couple or family.
|Usage||Used by many companies for routine carrier screening||Used by a few providers to comprehensively evaluate the gene|
|Mutation detection||Tests for a limited set of common mutations||Tests for 5 to 10 times more pathogenic mutations, and detects all common and rare disease-causing mutations|
|Accuracy||Provides limited utility beyond Caucasian and Jewish ethnicities||Delivers high accuracy across ethnicities|
|Detection of new pathogenic mutations||Fails||Enables the discovery of rare and novel mutations in a pan-ethnic population|
|Fails||Low residual risk, regardless of ethnicity|
The Claria Carrier Screening Test screens for genetic variations, and diseases that are very specific to Indian population.
The unique ‘Claria Carrier Screening Test’ is based on the Next-Generation Sequencing (NGS) technology and leverages the Indian population genetic variant database created by Sir Ganga Ram Hospital over the last twenty years. This has enabled MedGenome to develop a highly focused and cost-effective test to screen for diseases and genetic variations that are very specific to the Indian population.
A carrier, is a person that has inherited a recessive variant gene for a genetic trait or mutation but does not display that trait or show symptoms of the disease. Carriers are, however, able to pass the allele onto their offspring, who may then express the genetic if they inherit the recessive allele from both parents. The chance of two carriers having a child with the disease is 25%. This phenomenon is a direct result of the recessive nature of many genes.
Carriers are usually healthy or unaffected; but, they have a risk of passing on their genetic
condition to their children. Traditionally, carrier
screening has been offered to patients based on their ethnic background or family history.
However, more than 80% of babies born with inherited genetic diseases have no known
*# Bell CJ, et al. Carrier Testing For Severe Childhood Recessive Diseases by NGS. Sci Transl Med. 2011 Jan 12;3 (650:65ra4)
* Blythe and Farrell. Advances in the Diagnosis and Management of Cystic Fibrosis. Clinical Biochemistry. 1984
The Claria Carrier Screening detects for genetic variations, and diseases that are very specific to Indian population.The unique ‘Claria Carrier Screening is based on the Next-Generation Sequencing (NGS) technology and leverages the Indian population genetic variant database.
Our representative will get in touch with you within 24 hours to help you with the registration. You can start prescribing the test right away and help your patients gain clarity about their genetic health.