X
Hi
I agree to the terms and privacy policy
Verifying...
1

Have a requirement?
Get Best Price

Hi
I agree to the terms and privacy policy
Verifying...
1

Have a requirement?
Get Best Price

Genetic Services

Prominent & Leading Service Provider from Bengaluru, we offer Genetic Carrier Screening Service, ExomSure Dx Service, MitoSure Screening Service, Prenatsure NIPS Service, Clinexom Mitosure Service and ThalSure HBB Service.

Genetic Carrier Screening Service
Interested in this product?
Get Best Quote
Genetic testing is a screening test to determine if the person is the carrier for autosomal recessive-specific disease or not and in addition, certain genetic disorders are endemic in nature. Hundreds of disease are known to be associated with autosomal recessive condition, however majority of them are very rare. The GeneticSure test result will give an idea of one’s prognosis as well as specific genetic conditions and enables doctors to lay down proper healthcare management plan, to reduce financial burden on the family. GeneticSure  carrier testing are simple blood test, they can also be supplemented by advance molecular testing utilizing specific tissue or body fluids. GeneticSure|Pan-Ethnic testing covering more than hundred common disease provide a comprehensive solution. Depending upon the type of test, result usually available between 4-8 weeks and gives the status of one’s gene signature compared to reference i.e. unaffected healthy person. If you like to learn more about GeneticSure|Screening, please consult your Doctor/Genetic counsellors. They will not only help you in resolving your queries but also advise you which test suits your need, but the final choice is yours. Eurofins Genetic counsellor can also help you in selecting proper test.

View Complete Details

Yes, I am interested!

ExomSure Dx Service
Interested in this product?
Get Best Quote

ExomSure Dx Service

Get Latest Price

The ExomSure|Dx  is the next level in medical exome sequencing offered by Eurofins Clinical Genetics India Pvt. Ltd. (ECGI). The exome sequencing design provides >97% coverage of 22,000 genes, with a mean read depth of 100X. Most of the disease-associated genes are analyzed,having maximum coverage upto 100%  (depth coverage ≥20X) of all exons; which represents twice the number of genes with complete coverage offered by competitors, making it the most comprehensive exome sequencing test available. The exome sequence analysis and interpretation is performed by CLIA-/CAP-certified workflow.

The ExomSure|Dx test can be carried out for Proband, Trios and additional family member, which allows clinicians to choose relevant disease associated gene related to  patient’s phenotype. ECGI is  India’s  first  clinical laboratory to offering ExomSure|Dx test in collaboration with  Emory Genetic Lab (EGI), USA.

The human exome is the complete coding (exonic) region of the genome. It is estimated to encompass approximately 1-2% of the genome, yet contains approximately 85% of disease-causing pathogenic variants.

Current off-the-shelf exome kits used for clinical exome sequencing covers 92% of the exome. Traditionally, gene discovery has been done in research laboratories; however, now with the ability to sequence nearly the entire coding region of the human genome, it is possible for clinical laboratories to use this information to identify a previously unrecognized cause of disease.
Clinician Recommendation for ExomSure|DxTesting

By sequencing DNA, the clinicians may be able to know the genetic cause for the disease showing differential diagnostic phenotype  or your health related conditions. This test is referred  when there is a suspicion of a genetic etiology contributing  to the proband’s manifestations.
Findings of ExomSure|Dx

      Determine the possible cause of genetic conditions your disease or symptoms.
      Determine the risk that you or your family member may develop a disease.
      Help to choose the best treatment.

Methodology of ExomSure|Dx

ExomSure|Dx is performed on genomic DNA, isolated from blood, FFPE, saliva and body fluid. The exonic region are enriched using the proprietary technology designed by EGL which has additional coverage of know disease associated genes for better allele frequency. The ExomSure library using Next Generation Sequencing (NextSeq 500 / HiSeq) with 75/150 base pair (bp) pair-end reads having coverage ~80 to 100X in the target region. The data is quality filtered and qualified for downstream analysis. the data is mapped on human genome build UCSC hg19 reference sequence. The coding exons and splice junctions of the known protein-coding RefSeq genes are assessed for the depth of coverage and data quality threshold values. The ExomSure analysis will be performed using proprietary bioinformatics pipeline and database developed in collaboration with EGL. If the quality criteria does not meet the standards, then more data will be generated before further interpretation of result. The report will be reviewed and interpreted by Board Certified Laboratory Director followed by counselling support.

Further confirmation of all potential positive sequence variants in the patient can be confirmed by gold standard Sanger sequencing method for further verification to ensure proper scientific outcome (Contact ECGI Sales Team @ salesecgi@eurofins.com for further information).

View Complete Details

Yes, I am interested!

MitoSure  Screening Service
Interested in this product?
Get Best Quote
Mitochondrial Diseases

Mitochondrial diseases are a group of heterogeneous diseases caused by dysfunction due to genetic mutations in the mitochondrial genome or mutations in the nuclear genome which has an effect on the structure, function and integrity of the mitochondria. Mitochondrial diseases occur at an estimated frequency of 1:2000 to 1:5000 individuals, making it one of the most commonest  genetic  diseases. The mitochondria has a small genome, approximately over 16 kilo bases in length and encodes for a handful of genes. The mitochondrial genome is known to encode for 37 genes.
Facts

    How does Mitochondrial Disease affect the body?

The parts of the body that need the most energy, such as the heart, brain, muscles and lungs, are the most affected by mitochondrial disease.  The affected individual may have strokes, seizures, gastro-intestinal problems, (reflux, severe vomiting, constipation, diarrhoea), swallowing difficulties, failure to thrive, blindness, deafness, heart and kidney problems, muscle failure, heat/cold intolerance, diabetes, lactic acidosis, immune system problems and liver disease.

    What symptoms could an undiagnosed individual exhibit?

The child or adult may have seizures, severe vomiting, failure to thrive, heat/cold intolerance, poor muscle tone, delayed achievement of milestones, severe diarrhoea/constipation, feeding problems, unable to fight typical childhood infections or repeated infections and fevers without a known origin.  A "red flag" for mitochondrial disease is when a child or adult has more than three organ systems with problems or when a "typical" disease exhibits atypical qualities.

    Is Mitochondrial disease a childhood disease or it can affect adult also?

Although mitochondrial disorders are commonly seen in infants and children, they can occur at any  age. Some of these individuals have been ill through their whole lives but went undiagnosed.  Others have carried the genetic mutation that causes mitochondrial disease since birth but did not show any symptoms until a severe illness brought them on.  Adult mitochondrial disease patients are affected in a similar manner to the children who are affected.

    When is someone with Mitochondrial Disease at highest risk?

The child or adult with Mitochondrial Disease is at highest risk for neurological and organ damage during and for two weeks following an illness.  Therefore, even a simple flu or cold virus can have devastating effects on the patient. Any illness must be treated immediately with medical interventions.



 

View Complete Details

Yes, I am interested!

  • Prenatsure NIPS Service
  • Prenatsure NIPS Service
  • Prenatsure NIPS Service
Prenatsure NIPS Service
Interested in this product?
Get Best Quote

Prenatsure NIPS Service

Get Latest Price

What is Non-Invasive Prenatal -PreNatSure | NIPS Screening Test?

The PreNatSure | NIPS Screening test is simple non-invasive blood test that screens for the most common chromosomal abnormalities that can affect your baby's future health. Sample can be drawn at your PCPNDT approved doctor's clinic as early as the 10th  week of pregnancy. It may help you avoid more invasive procedures, such as amniocentesis or chorionic villus sampling (CVS), which can pose risks to you and your baby. Medical societies agree that alI pregnant women should be offered prenatal screening for fetal abnormalities and that NIPS is a major advance in screening methodologies.
Why should I choose PreNatSure | NIPS Screening  test over other tests?

    Early Screening: PreNatSure | NIPS Screening Test can be carried between early gestational age of 10th week and allow sufficient time  for further conformational investigation.
    Advanced Technology: ECGI is the only company in India using proprietary lllumina NIPS Technology and approved Veriseq NIPT analysis software.
    Confident Quality Assessment: Analysis Software includes built-in QA of each sample to ensure the accuracy of generated results. Data input for each sample is assessed for DNA library yield, sequencing data quality and quantity consistency & quality of NCV calculations. Batch-level quality and consistency  are also monitored.
    Clear &Reliable ResuIts: NCV scores from NIPS Analysis Software is used to aid in the detection and differentiation of euploid and aneuploid samples. The scores reflect normaIized coverage of the test chromosome.
    Low Risk: Only 1 tube of 10 ml  blood is required  in PreNatSure | NIPS Test Streck tube.
    Highly Effective: Can detect Aneuploidy even at Fetal Fraction (cfDNA) as low as 4-2.7%
    High Accuracy: Massive Parallel Sequencing of cfDNA to  generate  20   million  reads  per samples.
    Less Error: False positive and False  negative  rate as low as  2%
    High Sensitivity: Sensitivity 99.9% &  Specificity 99.7%.
    Test for All Parents- to- be: Optimized to handle consanguineous couple, with egg donors, IVF and twin pregnancies.
    Low TAT : Result in 7 working days after  receiving the sample@  ECGI laboratory  facility, Bangalore

Is the PreNatSure | NIPS Screening Test right for me?

The PreNatSure | NIPS Screening Test offers parents-to-be a new choice to obtain important information about the health of their developing baby and in the first trimester as per PCPNDT Act, 1994, with little or no risk to their pregnancy. This screening test is usually offered to pregnant women identified by their doctor to be at risk for fetal aneuploidy, which includes:

    Advanced maternal age 35+ years
    Your serum screening and ultrasound reports are indicating abnormality with fetal growth &/ development
    Previous history of pregnancy lost
    You have a personal or family history suggestive of Trisomies 21, 18, 13
    If you were exposed to any toxic chemical
ow does the PreNatSure | NIPS Screening  Test work?

A sample of an expecting mother blood is drawn, and the cfDNA is


   

View Complete Details

Yes, I am interested!

  • Clinexom Mitosure Service
  • Clinexom Mitosure Service
Clinexom Mitosure Service
Interested in this product?
Get Best Quote
Comprehensive Solution for Complex Genetic Disorders

3500+ Genetic disorders are screened by new advance ClinExomMitoSure panel.

Benefits of ClinExomSure :

    Clinical Exom Sequencing is targeted to protein coding regions of the genes related to the different genetic
    5200 genes are sequenced on illumina NGS platform at the coverage of 150X.
    Helps in diagnosis of heterogeneous clinical conditions related to hereditary disorders
    Reports are well annotated and all variants are classified as per ACMG guidelines for variant interpretation
    Identified variant has been annotated against 10/12 databases which includes: HGMD 2018, ECGI-db lab, EMVClass-db, ClinVar, db-SNP & others
Sidebar Image

Comprehensive Solution for Complex Genetic Disorders

3500+ Genetic disorders are screened by new advance ClinExomMitoSure panel.

Benefits of ClinExomSure :

    Clinical Exom Sequencing is targeted to protein coding regions of the genes related to the different genetic
    5200 genes are sequenced on illumina NGS platform at the coverage of 150X.
    Helps in diagnosis of heterogeneous clinical conditions related to hereditary disorders
    Reports are well annotated and all variants are classified as per ACMG guidelines for variant interpretation
    Identified variant has been annotated against 10/12 databases which includes: HGMD 2018, ECGI-db lab, EMVClass-db, ClinVar, db-SNP & others

 

Features
   

ClinExomMitoSure

Sequencing region
   

Clinical exome + Mitochondrial genome

No. of Disorders
   

3550+

Sequencing coverage
   

>99%

Read depth
   

ClinExom:150X & MitoSure 1000X

Analytical sensitivity
   

>99%

TAT
   

4 weeks

Comprehensive variant annotation & disease identification
   

ECGI-db,
EMVClass-db, HGMD, ClinVar, db-SNP & others

Technology Used
   

Eurofins/EGL Technology & IGIB for MitoSure

Pathogenic
   

A pathogenic variant which is a causative & driver mutation of the disease

Likely pathogenic
   

A variant which is very likely to be a driver mutation for the disease

VOUS/Variant of unknown significance
   

A variant associated with the disease but its significance is not known at present

Genes interpreted to be responsible for, or contributing to the patient’s clinical presentation

Book Free Pre & Post test Genetic Counseling by ECGI genetic counselors on ECGI mobile app

 

Indications:

View Complete Details

Yes, I am interested!

ThalSure HBB Service

Get Latest Price

Thalassemia is an autosomal recessive condition which mainly occurs due to abnormal formation of hemoglobin which results in improper oxygen supply and destruction of RBC’s. Thalassemia is mostly found in South Asian, Middle Eastern, Chinese, Mediterranean or African origin. Out of total global thalassemic patients, approximately 10% of the thalassemic are from India only. In India, more than 32000 babies are born every year with hemoglobinopathies with carrier frequency of about 3-4 % every year. Thalassemia screening is one of the most essential test for each family to leave a healthy and better life.

The word “Thalassemia” has a Greek origin; thalassa meaning sea and haema meaning blood. It is inherited disorder of blood meaning that can be transfer from one generation to another due to the gene mutation or deletion of certain key genes associated with blood haemoglobin production. Haemoglobin is oxygen carrying protein molecule found in erythrocytes commonly known as Red Blood Cells (RBC). Haemoglobin disorder results in destructions of RBC, leading to anemia. Based on the type of haemoglobin gene involved in the disorder, thalassemia is classified either as alpha-thalassemia (α- thalassemia, HBA) or beta-thalassemia (β-thalassemia, HBB). Compared to alpha-thalassemia, beta-thalassemia is more clinically significant even though latter (1-80%) has higher carrier rate compared to the former (3-17%). >95% of the server β-thalassemia cases are accounted by five common mutation (-IVS 1-5 G → C, IVS 1 -1 G → T, Codon 41/42 (- TCTT), Codon 8/9 and the 619 bp deletion)1.Genes

HBB (Hemoglobin Subunit Beta)
Indications

Based on severity β-thalassemia can be either thalassemia major (Cooley’s anemia) or thalassemia intermediate.

Thalassemia major generally occurs before child’s second birthday and show sign:

    Fussiness
    Paleness
    Frequent infections
    Poor appetite
    Failure to thrive
    Jaundice, which is a yellowing of the skin or the whites of the eyes
    Enlarged organs

Thalassemia intermediate is less severe form of β-thalassemia compared to thalassemia major which can be life threatening and requires regular blood transfusion.
Methodology

Polymerase Chain Reaction (PCR) will be performed on patient’s blood isolated genomic DNA (gDNA) for amplification of HBB gene. The amplified HBB gene product is sequenced bi-directionally using Sanger sequencing method.
Detection

    The method has clinical and analytical sensitivity of 99% for β-thalassemia.
    Pathogenic variants in regions other than the targeted area will not be detected by this test.
    Results of molecular analysis should be interpreted in the context of the patient's clinical and/or biochemical phenotype.
    Following pathogenic variants will be detected by this method

View Complete Details

Yes, I am interested!

Genesure 4-in-1 Service

Get Latest Price

Sidebar Image
 Condition Description      Indications
 Detection      References

 
Condition Description

Individuals have been reported to be carrier of one or more founder mutations, each associated with a specific inherited disease. Such founder mutations are known to contribute to a higher risk and prevalence of genetic disorders in a particular population (Agarwal/Agrawal community). 4-in-1 panel test for founder mutations associated with following diseases:

Limb-Girdle Muscular Dystrophy (LGMD) is a descriptive term applied to a clinically and genetically heterogeneous group of childhood or adult onset muscular dystrophies. Individuals with LGMD in general, have elevated serum creatine kinase (CK) levels and an abnormal muscle biopsy with dystrophic changes. The average age of onset of LGMD is 8-15 years. LGMD2A is a subtype of LGMDs which is also referred to as calpainopathy. It is an autosomal recessive disease caused by pathogenic variants in the CAPN3 gene and is one of the most frequent forms of LGMD. Megalencephalic Leukoencephalopathy (MLC) with subcortical cysts is a progressive condition that affects brain development and function. A distinct clinical syndrome characterized by megalencephaly, mild to moderate cognitive decline, slowly progressive spasticity, ataxia, occasional seizures, and extensive white matter changes with temporal cysts by imaging studies has been described in a particular ethnic group in India.  the MLC1 gene.

Heme Oxygenase-1 (HO-1) Deficiency (HMOX1D) is characterized by inadequate expression or functioning of the Heme oxygenase-1 (HO-1) enzyme. HO-1 is a stress-induced enzyme that catalyzes the oxidation of heme to biliverdin. The clinical presentation of HMOX1D includes growth delay, anaemia, leukocytosis, thrombocytosis, coagulation abnormality and hyperlipidemia. Pathogenic variants in the HMOX1 gene cause HMOX1D.

Hallervorden-Spatz Disease (HSD) is an autosomal recessive inherited neurodegenerative disorder with an onset at late childhood or early adolescence. HSD is characterized by progressive dementia, spasticity, rigidity, dystonia, choreoathetosis and pigmentary retinopathy. Pathogenic variants PANK2 gene cause HSD.
Genes (4)

CAPN3, MLC1, HMOX1, PANK2
Indications

This test is appropriate for:

Confirmation of a clinical diagnosis of LGMD2A, MLC, HO-1 deficiency or HSD in individuals of Agarwal/Agrawal community

Carrier testing in individuals of Agarwal/ Agrawal community who may or may not have a family history of LGMD2A, MLC, HO-1 deficiency or HSD.
Methodology

Sanger Sequencing:  Genomic regions of the four genes, CAPN3, MLC1, HMOX1, PANK2, containing the targeted founder mutations are amplified by polymerase chain reaction (PCR) using the patient’s DNA. Sequencing of PCR amplification products is performed bi-directionally for mutation detection.
Detection

    Clinical Sensitivity:The actual contribution of these founder mutations to disease prevalence is unknown; however based on current reports this may range from 50% to 100% for each of them.
    Pathogenic variants in regions other than the targeted area will not be detected by this test.

View Complete Details

Yes, I am interested!

    Limb-girdle muscular dystrophy (LGMD) is a descriptive term applied to a clinically and genetically heterogeneous group of childhood or adult onset muscular dystrophies.  Average age of onset is 8-15 years.
    LGMD is characterized by weakness and wasting restricted to the limb musculature, proximal greater than distal. Most individuals with LGMD show relative sparing of the heart and bulbar muscles, although exceptions occur, depending on the genetic subtype.
    Onset usually occurs in the lower extremities with proximal weakness, followed by weakness in the upper extremities some years later.
    LGMD type 2A is inherited in an autosomal recessive manner and also referred to as calpainopathy. This is likely the most frequent form of LGMD.
    LGMD 2A is caused by mutation in the gene encoding for calpain-3 resulting in total or partial loss of protein.
    Serum creatine kinase (CK) levels in individuals with LGMD are usually elevated and muscle biopsy reveals dystrophic changes.
    Intra and interfamilial variability has been observed. Serum CK levels can be normal but are often 5-80 times normal and calpain-3 is usually, but not always, absent by IHC.
    Agarwal community from Indian origin has shown two founder mutations in caplain gene.

Gene & Mutation

Mutations in CAPN3 gene (15q15.1-q21.1) cause LGMD 2A (intron18/exon19 & exon 22) commonly known as Agarwal founder mutation responsible to cause LGMD 2A.
Indications
This test is indicated for:

    Confirmation of a clinical diagnosis of LGMD 2A based on two founder mutations.

    Carrier testing in adults with a family history of LGMD 2A and First-degree relatives of patients with genetically confirmed mutation desirous of counseling.

    Patient with LGMD phenotype, like raised creatine kinase (CK) and electromyography suggestive of myopathy.

Methodology

Sanger Sequencing:  Two most significant target regions are amplified on the patient’s genomic DNA using polymerase chain reaction and subjected to bi-directional direct DNA Sanger sequencing for mutation detection.
Detection

    Screening of CAPN3 based on two founder pathogenic mutations.
    Results of molecular analysis should be interpreted in the context of the patient's biochemical /phenotype.
    For patients with suspected LGMD 2A, are recommended for founder mutation screening as the first step. For patients in whom mutations are not identified are suggested to go for full gene and/or deletion/duplication analysis by next generation sequencing.

Specimen Requirements

Type: EDTA Whole Blood;  Infants (2 years): 1-2 ml Blood;  Children & Adults: 5-10 ml Blood.
Special Instructions

    Submit patients consent form along with the samples.
    Biochemical diagnostic test results, if available.

 Specimen Collection and Shipping

    Refrigerate until time of shipment. Ship the sample at 4-80C with overnight delivery

    TAT applicable from the date of receipt of sample @ECGI

View Complete Details

Yes, I am interested!

GeneticSure|ACMG-ACOG Carrier screening for cystic fibrosis, spinal muscular atrophy (SMA), Bloom syndrome, Fanconi anaemia type C, Gaucher disease, Niemann-Pick type A, and Mucolipidosis IV as recommended by American College of Medical Genetics (ACMG) and four conditions  like Tay-Sachs, Canavan disease, cystic fibrosis, and familial dysautonomia,  as  recommended by American Congress of Obstetricians and Gynecologists (ACOG).

This panel is available as full gene sequencing by ECGI also offers single-gene sequencing for all genes on the panel, which may be utilized to more completely screen partners of positive carriers.

Although a positive test result should not affect the health of the individual, she could be at a 25% risk for passing that condition on to her children depending on the carrier status of the partner. In addition to the specific pathogenic variants identified by the panel, Eurofins Clinical Genetics  also offers single-gene, full gene sequencing for genes on the panel, which can be utilized to screen partners of positive carriers. Knowing about these risks ahead of time can help couples make decisions about testing options prior to and during pregnancy, and can help healthcare providers be more readily prepared to offer appropriate follow-up care at delivery.
Genes

ASPA, BLM, CFTR, FANCC, GBA, HEXA, IKBKAP, MCOLN1, SMN1, SMPD1
Indications                                                               

This test is indicated for:

    Individuals or couples seeking to assess reproductive risk for a variety of conditions.
    Individuals or couples of high-risk ethnic groups or backgrounds.

Methodology

Next Generation Sequencing: In-solution hybridization of all coding exons is performed on the patient’s genomic DNA. Although some deep intronic regions may also be analyzed, this assay is not meant to interrogate most promoter regions, deep intronic regions, or other regulatory elements, and does not detect single or multi-exon deletions or duplications. Direct sequencing of the captured regions is performed using next generation sequencing. The patient's gene sequences are then compared to a standard reference sequence. Only known pathogenic variants will be reported.

Spinal Muscular Atrophy (SMA) Testing: SMN1 gene  deletions were quantified by multiplex ligation polymerase chain  reaction amplification (MLPA) of exons 7 and 8. Gene dosage ratios of SMN1 are calculated relative to the average of 16 reference loci and are expressed as gene dosage, and/or copy number. Diploid gene dose or 2 copies of SMN1 indicates normal (not affected) status, 1x gene dosage or 1 copy of the SMN1 gene most likely indicates carrier status and deletions (less than 0.1x) of SMN1 or 0 copies of the SMN1 gene designates affected status. This carrier assay tests for the common SMN1 deletion only; other pathogenic variants will not be detected. SMN2 copy number is not assessed. 
Detection 

View Complete Details

Yes, I am interested!

Carrier screening for 146 disease, also includes recessive  and X-linked conditions
Carrier screening for recessive conditions

This component of the Pan-Ethnic Carrier Screen tests 138 genes that cause autosomal recessive conditions. It is the most extensive carrier screen to date and includes conditions of mobility, developmental delay, visual impairment, hearing loss, intellectual disability, skin irregularities, joint and bone disorders, abnormalities of the nervous system, and numerous metabolic syndromes. None of these conditions has a cure, but some can be well managed with diet or medication (e.g. PKU or biotinidase deficiency). Many of these conditions, however, can result in a shortened lifespan or require continued medical care (e.g. Tay-Sachs disease or cystic fibrosis).
Carrier screening for X-linked conditions

This component of the test screens 10 genes that cause X-linked recessive conditions. This testing includes repeat analysis for fragile X syndrome, the most common genetic form of intellectual disability in males. Females who are carriers for one of these conditions are at risk to pass the disease on to their sons.

Please note this panel will be performed and reported on both male and female specimens. Because of the nature of X-linked inheritance, this test, if positive, may be diagnostic for male patients in rare cases. If you do not wish to have X-linked conditions assessed in male patients, please contact the laboratory.
Carrier screening for spinal muscular atrophy (SMA)

Spinal muscular atrophy (SMA) is the second most common lethal, autosomal recessive disorder in Caucasians, with an incidence of approximately 1/10,000 and a carrier frequency of 1/50. SMA is characterized by anterior horn cell degeneration which causes a symmetrical muscle weakness and wasting. SMN1 is deleted in about 95% of individuals with SMA. This carrier assay tests for the common SMN1 deletion only; other pathogenic variants will not be detected.

Approximately 5-8% of carrier individuals will have a normal SMN1 copy number of two, but both copies will be on the same chromosome (in cis) with a deletion on the second chromosome. This assay will not detect these carrier individuals. This assay will not report SMN2 copy number.

Although a positive test result should not affect the health of the individual, she could be at a 25% risk for passing that condition on to her children depending on the carrier status of the partner. In addition, to the specific pathogenic variants identified by the panel at ECGI, can be utilized to screen partners of positive carriers. Knowing about these risks ahead of time can help couples make decisions about testing options prior to and during pregnancy, and can help healthcare providers be more readily prepared to offer appropriate follow-up care at delivery. While the specific risks will vary, the Pan-Ethnic Carrier Screen is appropriate for individuals of all ethnicities.

View Complete Details

Yes, I am interested!

Array Sure CGH Service

Get Latest Price

Sidebar Image

Approximately 60–70% of first-trimester miscarriages are caused by chromosomal abnormalities, including aneuploidies, triploidy, uniparental disomy (UPD), etc. Traditional cytogenetic analysis of these samples is frequently challenging due to high rates of culture failure and maternal contamination, increasing the turnaround time for the results.ArraySure is optimized for balanced whole-genome coverage, enabling high-resolution DNA copy number analysis with precise breakpoint accuracy as well as high-density SNP coverage for loss of heterozygosity (LOH) / absence of heterozyosity (AOH), long contiguous stretch of  homozygosity (LCSH), and uniparental isodisomy (UPD) detection.

ArraySure enables low-level mosaicism visualization, absence of heterozygosity (AOH) and acquired UPD (aUPD) detection, copy number change confirmation, triploidy detection, allelic imbalance pattern visualization.

ArraySure® Optima

    ArraySure® Optima is designed as a robust and cost-effective array with streamlined analysis of your prenatal and miscarriage products of conception (POC) samples.
    It consists of a total of 315,608 features covering control, copy number (CN), and single-nucleotide polymorphism (SNP) probes.
    Total of 18,018 CN and 148,450 SNP markers uniformly spaced over the genome with enhanced interrogation of 396 regions of prenatal interest.
    A minimum resolution of 1 MB for losses, 2 MB for gains, and 5 MB for LOH/AOH
    Increased coverage density (25 markers/100 kb) in 396 empirically selected regions relevant for prenatal research
    Faster TAT of 20 working days

View Complete Details

Yes, I am interested!
5.0/5★★★★★★★★★★

Reviewed by 1 Users

5 star1

4 star0

3 star0

2 star0

1 star0

Most Relevant Reviews

C

Chandramouli | Neospan| Chennai, Tamil Nadu

★★★★★ ★★★★★

03-May-21

Tell us what you need, and we’ll help you get quotes
Tell us what you
need
Receive seller
details
Seal the deal
Pay with IndiaMART
Tell us what you need, and we’ll help you get quotes
I agree to the terms and privacy policy