Claria From MedGenome

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

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Carrier Screening Test

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.

Why is the screening test critical in India?

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Most Common Genetic Disorders in India

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
Autosomal Recessive Disorders
autosomal autosomal
Why screen for inherited genetic conditions?
  • Each individual harbours an average of 2.8 known severe recessive mutations.#
  • 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 family history.*
# 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

When should a couple get tested?

A couple can get tested in the following situations

  • Preconception- when the couple is planning for a baby
  • Prenatal Diagnosis (early pregnancy)-with history of previous child affected, for getting to know the status in present pregnancy
  • Before an IVF procedure
  • Before a Preimplantation Genetic Diagnosis (embryo selection)
  • Before the use of a donor sperm and/or oocyte

Who should get tested?

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:

  • Consanguineous marriage
  • Either partner is affected by a hereditary disorder
  • History of a genetic disorder in the family
  • History of multiple pregnancy losses
  • Couple from an ethnic group with a high carrier rate of certain genetic disorders
  • Congenital anomalies detected in children
How do we test for these disorders?

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.

Carrier Screening Disorder Testing
Next-Generation Sequencing vs. Genotyping
Genotyping NGS
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
Why trust the Claria Carrier Screening Test?

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.

  • Best in class accuracy and easily interpretable reporting
  • Detection of all known common and rare disease-causing mutations
  • Free expert genetic counselling sessions with certified, multilinguistic genetic counsellors
  • Option of three customized screening panels covering over 2000 genes associated with AR/XLR disorders
  • State-of-the-artlabs based out of India, to process all samples with immediate access to the status of the sample
  • Higher accuracy and low residual risk, regardless of ethnicity
  • Pan-India presence for easy sample collection
  • Turnaround time of just 28 days for Silver and Gold panels and 42 days for Platinum panel
The Test Process
1.
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TRF

Physician orders the test.

2.
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SAMPLE

Blood sample collected

3.
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TESTING

Samples are shipped to MedGenome and analyzed.

4.
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REPORTING

Results sent to physician in 4-6 weeks.

5.
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COUNSELLING

Our genetic counsellor answer questions and provide additional resources.

Questions Answered

What are some of the most Common Genetic Disorders in India ?

  • Autosomal Recessive Disorders
  • Beta Thalassemia
  • Sickle Cell Anaemia
  • Cystic Fibrosis
  • Congenital Adrenal Hyperplasia
  • Spinal Muscular Atrophy
  • X-linked Recessive Disorders
  • Duchenne Muscular Dystrophy
  • Haemophilia A/B
  • Hunter Syndrome
  • G6PD Deficiency
  • X-Linked Mental Retardation

What does a Carrier Mean?

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.

Why screen for inherited genetic conditions?

Each individual harbours an average of 2.8 known severe recessive mutations.#

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 family history.
*# 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

Why trust the Claria Carrier Screening?

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.

  • Best in class accuracy and easily interpretable reporting
  • Detection of all known common and rare disease-causing mutations
  • Free expert genetic counselling sessions with certified, multilinguistic genetic counsellors
  • Option of three customized screening panels covering over 2000 genes associated with AR/XLR disorders
  • State-of-the-art labs based out of India, to process all samples with immediate access to the status of the sample
  • Higher accuracy and low residual risk, regardless of ethnicity
  • Pan-India presence for easy sample collection
  • Turnaround time of just 28 days for Silver and Gold panels and 42 days for Platinum panel

What are the benefits of Claria Carrier Screening?

  • Detection of all known common and rare disease-causing mutations.
  • Preconception carrier screening for pathogenic gene mutations and genetic counseling can reduce the incidence of disease
  • Best in class accuracy and easily interpretable reporting.
  • Informed decision making
  • Three customized screening panels on NGS & MLPA covering 1300 unique conditions.
  • Higher accuracy and low residual risk, regardless of ethnicity.
  • Turnaround time of just 28 days*
  • Reduce unnecessary testing
  • Reduce genetic disorder burden
Dial 1800 103 3691
diagnostics@medgenome.com

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.

Talk with one of our Genetic experts for free today

Our certified genetic specialists are available right now to discuss your queries before, during and after screenings.

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