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PanelSure NGS Service

Providing you the best range of PanelSure NGS Service, Women Focussed Panel Service, Neuro Panels Service, Neuro-Muscular Panels Service, Ent Panels Service and CardioSure Panel Service with effective & timely delivery.

PanelSure NGS Service

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Next-generation sequencing have the capability to assess multiple genes in parallel, for identifying genetic change that may contribute to inherited risk for genetic diseases in families. Thus, PanelSure are the best option of testing for various genetic diseases. The major benefits associated with various types of gene panels in clinical scenarios are in genetic risk assessment, testing and counselling considerations. This technology helps us examine thousands and thousands of genes at a cost that is comparable to that of tests for individual genes. There are certain percentages of individual in a population that have the chance of being born with DNA mutations that they have inherited from their parents. These individuals can be tested by PanelSure, these tests can be performed at an early stage of life and also can be performed on individuals showing no disease phenotype but have a family history of genetic disease.

One key feature of ECGI gene panels is “the design of the panel to cover the clinical significant regions associated with the diseases”.  Our team after finding the variants works closely with the physician ordering the test and genetic counselor to determine the need for a secondary analysis. This particular approach helps and enhances the clinical interpretation of causative variant in a patient.  The test report is issued to the physician, which consist of genetic variants detected in the panel ordered. The ECGI team interprets the finding based on the most recent scientific findings and literature.

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Majority of the women focused cancer especially breast and ovarian are sporadic in nature.  Although having no family history, 5-10% of the breast and ovarian cancer are due to hereditary predisposition. As per National Cancer Institute’s Surveillance, Epidemiology, and End Results Program (SEER)1, in their life 12% (1 in 8) and 1.4% (1 in 71) of the women will either develop breast or ovarian cancer.

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Neuro Panels Service

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Disorders associated with nervous system are known to show heterogeneity both at the genetic and phenotypic level. As a group they show overlapping clinical features e.g. epilepsy, seizures, epiphyses, intellectual disability, muscle weakness etc. making it difficult to diagnose the disorder. Brain, CNS, and PNS Cancer

 Epilepsy and Seizure Disorders
 Multiple Epiphyseal Dysplasia

 X-linked Intellectual Disability

Congenital Muscular Dystrophy: Sequencing Panel

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The term Neuro-Muscular encompasses the disorder associated with muscles function. The impairment of the muscle function can either by directly i.e. pathogenesis of voluntary muscles or indirectly i.e. pathologies associated with nerves or neuromuscular junction. Depending upon the location and nature of the problem it can lead to spasticity or paralysis. Comprising over 200 Mendelian disorders, Neuro-Muscular Disorder (NMD) are rare (1 in 3000). The symptom shows heterogeneity and not restricted to myopathy and dystrophy.

1. Expanded Neuromuscular Disorders

2. Limb-Girdle Muscular Dystrophy

3. Neuromuscular Disorders

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Ent Panels Service

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Dysfunction of Ear, Nose and Throat (ENT) can affect the quality of life in an individual and can even lead to medical emergency.Apart from ENT, eyes also are important part of our sensory perception. The inherited retinal and choroidal dystrophies can be symptomatic or non-symptomatic showing wide range of phenotypic and genetic heterogeneity making it difficult to  at the early stage of the disease. The clinical feature can vary from vision loss, vision distortion, loss of peripheral vision, to night blindness.

1. Ano/Microphthalmia/ASD: Sequencing Panel

2. Congenital Disorders of Glycosylation

3. Marfan Syndrome /TAAD Disorders: Sequencing Panel

4. Macular Dystrophy/Degeneration/Stargardt Disease: Sequencing Panel

5. Leber Congenital Amaurosis: Sequencing Panel

6. Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel

7. Eye Disorders: Comprehensive SequencingPanel

8. Hearing Loss: Sequencing Panel

9. Optic Atrophy: Sequencing Panel

10. Retina/Photoreceptor Dystrophy: Sequencing Panel

11. Retinitis Pigmentosa: Sequencing Panel

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CardioSure Panel Service

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Defined as a disease of the heart muscle, cardiomyopathy can be characterized by the muscle enlargement (dilated), thickening (hypertrophied), or rigidness causing the heart to work less efficiently leading to heart failure, arrhythmias, and/or sudden death. Patients can develop cardiomyopathy due to a variety of reasons, including but not limited to: long-term high-blood pressure, coronary artery disease, uncontrolled heart rhythm, infection, metabolic disorders, and/or nutritional deficiencies. In rare cases individuals are born with a genetic predisposition due to gene associated pathogenic variants. Genetic testing can help determine if an individual carries a disease-causing variant in a gene that has been associated with a heritable risk to develop cardiomyopathy, as well as potentially provide valuable information to the patient and their family about future medical management.

Patients or families with one or more of the following conditions may benefit from genetic testing:

              Cardiomyopathy or enlarged heart
              ICD/Pacemaker placement at <50 years of age
              Heart failure and/or transplant
              Exercise intolerance
              Unexplained cardiac arrest(s) or sudden death
              Unexplained accidents such as downing and single car accidents

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Onco Panels Service

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Lynch syndrome, caused by a germline mutation in a mismatch repair gene or associated with tumors exhibiting MSI, is characterized by an increased risk of colon cancer and other cancers (e.g., of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, skin). Individuals with Lynch syndrome have an approximately 80% lifetime risk for colon cancer. The average age of colorectal cancer  is 61 years. Women with Lynch syndrome have a 20%-60% lifetime risk of endometrial cancer. The average age of  of endometrial cancer is age 46-62 years. Among women with Lynch syndrome who develop both colon cancer and endometrial cancer, approximately 50% present first with endometrial cancer. In Lynch syndrome, the mean age of  of gastric cancer is age 56 years, with intestinal-type adenocarcinoma being the most commonly reported pathology. Lynch syndrome-associated ovarian cancers have a mean age of  of 42.5 years; approximately 30%are diagnosed before age 40 years.

Lynch syndrome is known to be associated with mutations in four genes involved in the mismatch repair pathway (MLH1, MSH2, MSH6, and PMS2). Germline mutations in MLH1 and MSH2 account for approximately 90% of detected mutations in families with Lynch syndrome. Mutations in MSH6 have been reported in approximately 7%-10% of families with Lynch syndrome. Mutations in PMS2 account for fewer than 5% of mutations in families with Lynch syndrome. Up to 39% of families with mutations in an Lynch syndrome gene do not meet the Amsterdam Criteria. Therefore, families found to have a deleterious mutation in an Lynch syndrome gene should be considered to have Lynch syndrome regardless of the extent of the familyhistory At least 20% of mutations in MSH2 and 5% of mutations in MLH1 are large deletions or genetic rearrangements

Lynch syndrome is inherited in an autosomal dominant manner. The majority of individuals diagnosed with Lynch syndrome have inherited the condition from a parent. However, because of incomplete penetrance, variable age of cancer development, cancer risk reduction as a result of screening or prophylactic surgery, or early death, not all individuals with a Lynch syndrome gene mutation have a parent who had cancer.

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