• YOUR PATIENTS GET LOTS OF ADVICE.
    YOU CAN GIVE THEM CLARITY.

    You can now recommend SNP based NIPT
    from as early as the 9th week of pregnancy.

HealthCare Providers

WHAT IS MEDGENOME CLARIA?

Now available in India for the very first time, MedGenome Claria is an integrated solution of SNP based NIPT (Panorama) along with a highly customised and free genetic counselling service. MedGenome Claria empowers you to guide and provide great clarity to your patients from as early as the 9th week of a pregnancy.

About Panorama NIPT

Panorama NIPT is a highly accurate non-invasive prenatal screening test which can provide you and your expecting patient with much-needed reassurance. The test uses advanced bioinformatics technology to evaluate foetal DNA (of placental origin) in maternal blood.

It uniquely distinguishes between foetal and maternal cell-free DNA in the mothers blood to give your and your patient vital information about the fetus. With a comprehensive panel of clinically significant chromosomal aneuploidies (such as, trisomies 21, 18 and 13, and monosomy X) and microdeletions. To help you manage your patients pregnancy better, MedGenome NIPT can be safely done from as early as the 9th week of pregnancy.

What does Panorama NIPT screen for?

LIST OF CONDITIONS TESTED by MedGenome NIPT
Trisomy 21Down syndrome
Trisomy 18Edward's syndrome
Trisomy 13Patau syndrome
Triploidy
Monosomy X Turner syndrome
Sex Chromosome Trisomies
22q11.2 deletion syndrome
1p36 deletion syndrome
Prader Willi syndrome*
Angelman syndrome*
Cri-du-chat syndrome

*caused by deletions

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MEDGENOME CLARIA EXPERTISE / ADVANTAGE

The unique molecular biology, bioinformatics and human approach, utilised by MedGenome Claria provides greater quality control capability, making it one of a kind solution. MedGenome CLARIA provides:

  • An absolutely FREE genetic counselling service.
    • Expert genetic counselling and a knowledge centre to help and guide your patients through the entire testing process
  • Superior over other NIPT’s
    • Panorama NIPT Can be performed as early as in week 9 of gestation – earlier than any other test.
    • Offers consistently high levels of detection across all evaluated chromosomes.
    • Highest levels of sensitivity and lowest levels of false positives even at low foetal fractions
  • Amplifies and sequences Single-Nucleotide Polymorphisms (SNPs) to differentiate between maternal and foetal genotypes.
    • This gives Panorama NIPT more power when determining the genetic state of the foetus. SNPs contain more information than most regions of the Genome.
    • Doesn’t require a reference chromosome and is uniquely able to detect triploidy, estimated to occur in about 1:1,500 pregnancies at 10-14 weeks.
    • Always reports high or low risk for monosomy X, an aneuploidy that is present at mid-trimester more frequently than the autosomal trisomies combined.
    • To proficiently detect sub-chromosomal copy number variations, such as microdeletions.
  • MedGenome Claria does NOT perform gender determination.
  • All samples for MedGenome Claria are collected only at certified PCP&NDT certified labs.
    • Reimbursement on diagnostic testing.
      • If the patients report comes in as a “HIGH RISK”, MedGenome will offer a complete reimbursement on the further confirmatory test
    • Lab in India - Unlike with the NIPT solutions in the MedGenome is the only entity to have a state of art lab in India. The samples do not need to be sent overseas for screening and therefore our response time is 2X faster. It only takes 7 to 10 days for the report and saving valuable time of your patient during her pregnancy.
  • Compliance
    • MedGenome is a PC & PNDT certified company. We adhere to the Pre-Natal Diagnostics Techniques (Regulation & Prevention of misuse) Act , 1994
      • MedGenome NIPT does not disclose or test for the sex of the foetus.

PANORAMA NIPT v/s Traditional Tests

With a sensitivity of over 99.84% and a false positive rate of less than 1%, every MedGenome NIPT report provides a personalized risk score which is far more accurate than traditional screening procedures.

MedGenome NIPT screens for more chromosomal abnormalities with greater accuracy. Compared to first trimester screenings MedGenome NIPT has higher sensitivity and low false positive rate for the conditions screened.

Accuracy chart First Trimester Screen (Sensitivity & False Positive Value) MedGenome NIPT (Sensitivity & False Positive Value)
Trisomy 21
Down’s Syndrome
79%
79
5%
5
>99%(83/83)
>99%(83/83)
0%
0
Trisomy 18
Edwards Syndrome
80%
80
0.3%
0.3
>96.4%(27/28)
>96.4%(27/28)
0.1%
0
Trisomy 13
Patau Syndrome
50%
50
0.35%
0.35
>99%(13/13)
>99%(13/13)
0%
0
Monosomy X
Turner Syndrome
Does not screen
>99%(8/8)
>99%(8/8)
0%
0
Triploidy
Does not screen for
>92.9%(8/8)
>99%(83/83)
Optional Microdeletion Syndromes
22q 11.2 deletion
DiGeorge Syndrome
Does not screen for
95.7%45/47
95.7%45/47
Monosomy X
Turner Syndrome
Does not screen for
>93.8 to >99%
>93.8

* Additional microdeletions include Angelman, Cri-du-chat, 1p36 deletion & Prader-Willi

 

Maternal Serum Screening (MSS) MedGenome NIPT Chorionic Villus Sampling (CVS) Amniocentesis
SCREENING TESTS DIAGNOSTIC TESTS
Timing 11-13 weeks
and/or
15-22 weeks
>9
weeks
10-12
weeks
15-22
weeks
False Positive Rate 5% <1% <<% <<1%
No. of Chromo. Conditions Tested 2-3 Conditions
T21
T18
& sometimes T13
>5+ Conditions
T21
T18
T13
Monosomy X
Triploidy, SCA
Microdeletions*
All
chromosomes
All
chromosomes
PPV 5% 91% for T21

*The only validated study in India (Wapner and Gross)

PANORAMA NIPT v/s Other NIPT Offerings

MedGenome NIPT employs unique SNP-based genetic sequencing along with proprietary algorithm, of Next-Generation Aneuploidy Test Using SNPs. that allow for unparalleled sensitivity and specificity over conventional non-invasive screening and other cfDna-based methods.

 

Feature MedGenome NIPT Others Significance
Fetal Fraction Huge advantage, reduces false negatives
Validation Extensive Variable Huge advantage, reduces false negatives
Validation in India Shows effectiveness in Indian scenario
PC & PNDT certified Yes Not known Mandatory in India
Laboratory Bengaluru Shipped outside Reduces transit time and need for redraws
Maternal contribution Reduces false positives
Vanishing Twin Reduces false positives, >15% False positives in others
Triploidy Severe birth defects risks to mother, preeclampsia, cancer
Microdeletion First and only validated study

 

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THE Methodology

First, a simple maternal blood draw is done, and special tubes are used for sample collection to protect the cfDNA. Maternal DNA is isolated and identified from her white blood cells using SNP sequencing. This information is utilized to “subtract out” the maternal genotype, resulting in a more robust fetal genotype and thus higher accuracy. After samples are processed, a report is generated containing personalized risk scores for each of the chromosomes evaluated.

Maternal Blood
Maternal + Fetal cfDNA
SNP Sequencing of Maternal + Fetal Genotype
Advanced Bioinformatics
Report
Maternal Blood
Maternal + Fetal cfDNA
SNP Sequencing of Maternal + Fetal Genotype
Advanced Bioinformatics
Report
(including fetal fraction for all results and PPV for positive results)
(including fetal fraction for all results and PPV for positive results)

LIFECYCLE OF TEST

  • A simple maternal blood draw is done using the collection kit
  • Samples are sent to the MedGenome lab in Bengaluru
  • Samples are processed
  • Personalized risk scores report is generated within 7-10 days
  • Our genetic support team can guide you for next steps.
  • Follow-up testing may be advised if identified as high-risk for fetal chromosomal abnormality

Lifecycle
of the test

Step

Step1

Maternal Blood sample collection

Small sample blood collected from the mother’s arm

Lifecycle
of the test

Step

Step2

Maternal/Fetal DNA separation

Fetal cfDNA is heavily diluted with maternal cfDNA. MedGenome NIPT is the only NIPT that utilizes the mother’s white blood cells to isolate and identify her DNA, then uses this information to “subtract out” the maternal genotype, resulting in a more robust fetal genotype and thus higher accuracy even at fetal fractions as low as 4%.

Lifecycle
of the test

Step

Step3

SNP Sequencing

Compared to traditional first generation counting methods, MedGenome NIPT uses a second generation SNP based methodology that specifically targets SNPs to determine ploidy. It targets 13,392 SNPs covering chromosomes 21,18,13 , X and Y; additional sets of SNPs are targeted for detection of microdeletions.

Lifecycle
of the test

Step

Step4

advanceD bioinformatics

MedGenome NIPT uses the highly sensitive (Next Generation Aneuploidy Test Using SNPs) NATUSTM algorithm, which determines a calculated accuracy for each call, and does not require a reference chromosome. Additionally, the method’s unique bioinformatics approach results in greater quality control capabilities.

Lifecycle
of the test

Step

Step5

Personalised Risk Score and Genetic Counselling

After samples are processed, a report is generated that contains personalized risk scores for each of the chromosomes evaluated. For patients identified as high-risk for a fetal chromosomal abnormality, follow-up testing is recommended. Genetic counselling is recommended for all patients. MedGenome NIPT is NOT used for gender determination.

Lifecycle
of the test

Step

Step6

Follow-up testing may be advised if identified as high-risk for fetal chromosomal abnormality

AVAILABILITY CENTRES

Samples for MedGenome NIPT are only collected at PCP-NDT certified centres.

Book Your Test today!
Call us at 000 000 000
Email Us at

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VALIDATED PERFORMANCE OF PANORAMA NIPT

Validation
T21, T18, T13, and MX3
Clinical Outcomes
T21, T18, T13, and MX4 (Aneuploidy Incidence)
Sensitivity Specificity PPV*
High Risk**
98%(98/100)
98%(98/100)
99.5%(389/391)
99.5(389/391)
82.9%(2.4%)
82.9%(2.4%)
Average Risk**
100%(5/5)
100%(5/5)
100%(389/391)
100(469/469)
87.2%(1.0%)
87.2%(1.0%)

*PPV = Positive Predictive Value
- Dar et al, November 2014
**For the purposes of calculating PPV, high risk was defined as women of or above the age of 35 at the time of delivery, and average risk was defined as women below the age of 35.

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PATIENT CONVERSATION

  • It can be administered early into the pregnancy, at 9 weeks – earlier than any other prenatal test, which empowers the parents to make informed decisions about the future of their baby.
MedGenome
>99%
Available from week 9
Integrated Screening
<96%
Available from week 15
Serum Integrated Screening
<88%
Available from week 15
Quad Screening
<81%
Available from week 15
First Trimester Screening
<80%
Available from week 15
  • The international society of PreNatal diagnostics recognises that NIPT can be very useful as a screening test for women. A positive / high risk report must be confirmed by an invasive test.
  • Medgenome NIPT is backed by 21st century technology and PURE SCIENCE, and does not rely on any traditional methodology which are low on accuracy. It uniquely distinguishes between fetal and maternal cell-free DNA, leading to fewer false positives and a higher accuracy of over 99.84%.
  • Due to the higher false positive rates in traditional screening tests, many women might have to undergo the invasive tests of Amniocentesis /CVS unnecessarily and which carry a slight risk factor of miscarriage.
MedGenome
0.1%
Serum Integrated Screening
7%
Quad Screening
10%
Quad Screening
9%
  • The MedGenome NIPT screening test provides a more comprehensive basic panel compared to any other screening methods.
  • In the event of a positive result for any of the patients we will cover the costs for doing an AmnioCentesis test for that patient.

 

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FAQ’S

  • What is the sensitivity of the test?

    In case of High Risk sensitivity is 98.0%
    In case of Average Risk sensitivity is 100%

  • What is the specificity of the test?

    In case of High Risk specificity is 99.5%
    In case of Average Risk specificity is 100%

Know More

DOCTOR SUPPORT

Dear Doctor, to become a provider, fill this form.

Once you submit the form, our local support team will contact you and dispatch a Collection Kit with the following contents:

  • 2 collection tubes
  • A cheek swab (for the father's sample)
  • Syringe
  • Instructions for sample collection
  • Test requisition form (includes Consent form and Terms and Conditions)

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Book Your Test