Carrier | MedGenome

Claria from MedGenome:

We, at MedGenome are 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 Next-generation Sequencing (NGS) 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 these tests, Claria now offers not only advanced NGS-based tests but also
routine prenatal diagnostics and cytogenetic tests.

Why is the screening test critical in India?

Over 50,000,000 people with single gene disorders

Over 1,000,000 babies born with genetic disorders each year

20% to 30% of all infant deaths are due to genetic disorders

1 in 100 babies born with an inherited disease

Most Common Genetic Disorders in India

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

Autosomal Recessive Disorders

If both parents are carriers

  • 25% chance of the baby being uneffected
  • 25% chance of the baby being affected
  • 50% chance of the baby being a carrier

If only one parent is a carrier

  • 50% chance of the baby being unaffected
  • 50% chance of the being a carrier

If one parent is affected and the other parent is a carrier

  • 50% chance the baby being affected
  • 50% chance of the baby being a carrier

X-Linked Recessive Disorders

If the mother is a carrier for a X-linked disorder

  • 50% chance of males to be affected Feamales are unaffected

Why screen for inherited genetic conditions?

  • Each individual harbours an average of 2.8 known severe recessive mutations.
    Bell CJ, et al. Carrier Testing For Severe Childhood Recessive Diseases by NGS. Sci Transl Med. 2011 Jan 12;3 (650:65ra4)
  • 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.
    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.

Next-Generation Sequencing vs. Genotyping

GenotypingNGS
UsageUsed by many companies for routine carrier screeningUsed by a few providers to comprehensively evaluate the gene
Mutation detectionTests for a limited set of common mutationsTests for 5 to 10 times more pathogenic mutations, and detects all common and rare disease-causing mutations
AccuracyProvides limited utility beyond Caucasian and Jewish ethnicitiesDelivers high accuracy across ethnicities
Detection of new pathogenic mutationsFailsEnables the discovery of rare and novel mutations in a pan-ethnic population
FailsLow 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

TRF

Physician orders the test.

Sample

Blood sample collected

Testing

Samples are shipped to MedGenome and analyzed.

Reporting

Results sent to physician in 4-6 weeks.

Counselling

Physician orders the test.

The Test Process

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Similar Tests

  • *Amniotic Fluid karyotyping + FISH (5 probes - 13,18,21, sex chromosomes)
  • *Amniotic Fluid karyotyping + FISH(2 probes)(either 13/21 or 18/X/Y]
  • *Amniotic Fluid karyotyping only

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Patient Stories

After a 12 year long struggle with multiple miscarriages, this couple was blessed with a baby. The baby was conceived using IVF in combination with an advanced genetic screening technique called Preimplantation Genetic Screening (PGS).

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