Carrier Screening Test | Claria | MedGenome | MedGenome - Part 18001033691

What is a Carrier Screening Test?

When a couple is planning for a pregnancy, it is important that they know all they can about the health 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 helps couples understand and plan better for their future. This is a comprehensive screening test that screens for genetic disorders and has the power to detect disease causing mutations in over 2000 genes. Claria Carrier Screening Test is based on the best-in-class NGS (Next Generation Sequencing) and MLPA (Multiplex Ligation Probe Amplification) technologies and provides the most accurate and comprehensive information needed when a couple is preparing for their pregnancy.

Prevalence

Over 5,00,00,000 people with single-gene disorders

Over 10,00,000 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

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 unaffected
  • 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 baby 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 male baby to be affected
  • 50% chance of female baby being carrier

Why screen for inherited genetic conditions?

  • Each individual harbors 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

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 who are planning a pregnancy. But this 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
  • A couple from an ethnic group with a high carrier rate of certain genetic disorders
  • Congenital anomalies detected in children

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) — check history of the previous child with the disease to diagnose the present pregnancy
  • Before an IVF procedure
  • Before a Preimplantation Genetic Diagnosis (embryo selection)
  • Before the use of donor sperm and/or oocyte

How do we test for these disorders?

The Claria Carrier Screening Test is based on Next-generation Sequencing (NGS) and Multiplex Ligation Probe Amplification (MLPA) technologies. This enables one to detect disease-causing mutations in over 2,000 genes which are responsible for the Autosomal Recessive and X-Linked Recessive genetic disorders. Next Generation Sequencing is a superior technology which is used 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 of the 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 the Indian population. This unique test is based on the NGS technology and leverages the Indian population genetic variant. This has enabled in developing 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 easy interpretable reporting
  • Detection of all known common and rare disease-causing mutations
  • Free expert genetic counselling sessions with certified, multilinguistic genetic counselors
  • The option of three customized screening panels covering over 2,000 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 14 days for Silver and Gold and 21 days for the Platinum panel

The Test Process

TRF

Physician orders the test

Sample

Blood sample collected

Testing

Samples are shipped to our facility and analyzed

Reporting

Results sent to the physician in 14 to 21 days

Counselling

Our genetic counsellors answer questions and provide additional resources

FAQ

Autosomal Recessive Disorders

  • Beta Thalassemia
  • Sickle Cell Anemia
  • 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

A carrier is a person who 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 on to their offspring, who may then express the genetic disorder 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.

Each individual harbors 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.

  • Detect all known common and rare disease-causing mutations
  • Reduce the incidence of disease with preconception carrier screening for pathogenic gene mutations and genetic counseling
  • Use best in class accuracy and easily interpretable reporting
  • Make informed decisions
  • Cover 1300 unique conditions with three customized screening panels on NGS and MLPA
  • Ensure higher accuracy and low residual risk, regardless of ethnicity
  • Shorten turnaround time of just 14 to 21 days
  • Remove unnecessary testing
  • Reduce the genetic disorder burden

Brochures

Carrier Screening

Patient Stories

Ravi & Swati’s Story – How Carrier Screening Helped them in getting a Healthy Baby

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