Be at the forefront of genetic
screening advancements
with NGS Technology based
Claria Carrier Screening Test
Be at the forefront of genetic
screening advancements
with NGS Technology based
Claria Carrier
Screening Test
Why is Screening for Hereditary
Disorders critical in India?
OVER
50,000,000
PEOPLE WITH SINGLE
GENE DISORDER
OVER
1,000,000
babies born with genetic disorders each year
AROUND
20% TO 30%
of all infant deaths are due to genetic disorders
1 in 100
1 in 100
babies born with an inherited genetic disorder
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.
Every person has two copies of each gene, one inherited from each parent in case of autosomal genes. The defective copy is responsible for the chance of inheriting the disorder.
- Autosomal dominant disorders – one mutated copy of the gene
- Autosomal recessive disorders – two copies of the mutated gene
- X-linked disorders – mutations in genes on the X chromosome
- The defect can also occur for the first time in the offspring of unaffected parents, de novo mutations
A hereditary disorder is a health problem that has been passed from parents to their babies through defective genes. Some of the most common hereditary disorders include Thalassemia, sickle cell disease, anemia, Tay-Sachs disease and muscular dystrophy.
If Only One Parent Is A Carrier
- 25% chance of the baby being unaffected
- 25% chance of the baby inheriting a disorder
- 50% chance of the baby being a phenotypically normal heterozygous carrier
If Only One Parent Is A Carrier
- 50% chance of the baby being a phenotypically normal heterozygous carrier
If Only One Parent Is A Carrier
- 50% chance of the baby being a phenotypically normal heterozygous carrier
- 50% chance of the baby being affected with a recessive disorder carrier
Most Common Genetic
Disorders in India
Alpha-Thalassemia is been reported a high incidence of 1:1, 500 and an estimated carrier frequency rate of 1:20
- Beta-Thalassemia
- Cystic Fibrosis
- Amino Acid Disorders
- Congenital Adrenal Hyperplasia
- Sickle Cell Anaemia
- Spinal Muscular Atrophy
- Growth Hormone Deficiency
- Mucupolysaccharidosis
- G6pd Deficiency
- Non-syndromic Hearing Loss
- Muscular Dystrophy
- Haemophilia A
Why Trust Claria Carrier Screening Test ?
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. Therefore enabling MedGenome to develop a highly focussed and cost effective test to screen for diseases and genetic variations that are very specific to Indian population.
Superior Technology
MedGenome offers Next Generation Sequencing (NGS) for over 1300 recessive disorders. These disorders include those not commonly offered by other tests, such as Spinal Muscular Atrophy, Duchenne Muscular Dystrophy and Thalassemia, among others.
Next-Generation
Sequencing V/S Traditional Genotyping
GENOTYPING |
NGS |
|
|---|---|---|
| MUTATIONS DETECTION | Tests for a limited set of common mutations. | Tests for 5-10 times more pathogenic Mutations, and detects all common and rare disease causing mutations. |
| ACCURACY | Provides limited utility beyond caucasian and Jewish ethnicities | Delivers higher accuracy across ethnicities. |
| Detection of new Pathogenic mutations | Fails | Enables the discovery of rare and novel mutations in a pan-ethnic population. |
Benefits of the
Carrier Test
Free expert genetic counselling sessions with certified, multilingual counsellors.
- 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
Who should get tested?
Highly Recommended for
- Consanguineous marriage.
- A person already suffering from a hereditary disorder.
- H/O familial genetic disease in the family.
- Multiple miscarriages
- People from an ethenic group with a high carrier rate of certain genetic disorders.
- Congenital anomalies
- Couples considering pregnancy or already pregnant
- Couples considering IVF
More than 80% of babies born with an inherited genetic disease have no known family history.
Great test variants for you to choose from and
offer your patients the one that’s best suited for them.
SILVERTests for 100 Genes |
GOLDTests for 500 Genes |
PLATINUMTests over 2000+ Genes |
|---|---|---|
| Dermatology | Everything in Silver plus |
Tests for >2000 GenesScreens for all Disorders in
|
| Endocrine diseases | Autoimmune disorders | |
| ENT disorders | Immunology | |
| Fetal medicine | Connective tissue disorders | |
| Haematology disorders | Genitourinary | |
| IEM | Pediatric cardiology | |
| Immunodeficiency | Reproductive disorder genes | |
| Metabolic disorders | Respiratory disorders | |
| Mitochondrial disorders | Skeletal disorders | |
| Nephrology | ||
| Neurodegenerative disorder | ||
| Neurology | ||
| Neuromuscular | ||
| Ophthalmology |
Great test variants for you to choose from and
offer your patients the one that’s best suited for them.
The Test Process
If you don’t tell them,
who will?
Join us in empowering your patients with
the best options in genetic screening.
Become a Provider
Joining our provider network is very simple.
All you need to do is
email us at diagnostics@medgenome.com
or dial 1800 103 3691
Our representative will get in touch with you within 24 hours to help you with the registration. You can then start prescribing the test right away and help your patients gain clarity about their genetic health.