medgenome

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Newborn Screening Test

MedGenome’s Newborn Screening Test is a crucial early diagnostic tool that screens newborns for a range of genetic and metabolic disorders. By analyzing a small blood sample, this test can detect conditions such as cystic fibrosis, congenital hypothyroidism, and phenylketonuria. Early detection through newborn screening allows for timely interventions, preventing serious health issues and promoting better long-term outcomes. MedGenome ensures accurate and comprehensive screening, providing peace of mind to new parents. Trust MedGenome’s Newborn Screening Test for the best start in your child's health journey.

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Clinical Exome Test

MedGenome’s Clinical Exome Test is an essential tool for diagnosing genetic disorders. Focusing on clinically relevant genes, this test identifies mutations that cause a wide range of inherited conditions. By sequencing these crucial regions of the genome, MedGenome provides precise and comprehensive results. The Clinical Exome Test aids healthcare providers in diagnosing complex genetic disorders, facilitating targeted treatments and personalized care plans. With advanced technology and expert interpretation, MedGenome ensures accurate and reliable outcomes. Trust MedGenome’s Clinical Exome Test for detailed genetic insights and improved patient management.

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Whole Exome Analysis

MedGenome’s Whole Exome Analysis is a powerful diagnostic tool that examines all protein-coding regions of the genome. This comprehensive test identifies genetic variations responsible for rare and inherited diseases, providing crucial insights into a patient’s genetic makeup. Ideal for diagnosing unexplained medical conditions, Whole Exome Analysis delivers accurate and actionable results. MedGenome's advanced technology ensures high-quality data and detailed interpretation, aiding healthcare professionals in making informed treatment decisions. Rely on MedGenome’s Whole Exome Analysis for precise genetic diagnostics and improved patient care.

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Carrier Screening Test

MedGenome’s Carrier Screening Test is a crucial tool for couples planning a family. This genetic test identifies whether prospective parents carry genes for inherited disorders like cystic fibrosis, spinal muscular atrophy, and sickle cell anemia. Early detection allows for informed reproductive choices and preparation for potential health concerns. Utilizing cutting-edge technology, MedGenome ensures precise and reliable results. By understanding genetic risks, couples can make proactive decisions for a healthier future. Trust MedGenome’s Carrier Screening Test for comprehensive genetic insights and peace of mind.

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Maternal Serum Screening

Maternal Serum Screening by MedGenome is a vital prenatal test that assesses the risk of fetal abnormalities. By analyzing specific proteins and hormones in the mother's blood, this screening can identify potential chromosomal conditions such as Down syndrome, trisomy 18, and neural tube defects. MedGenome’s advanced technology ensures accurate and timely results, providing expectant parents with essential information for early and informed decision-making. Safe and non-invasive, Maternal Serum Screening helps in planning and managing the pregnancy effectively. Trust MedGenome for comprehensive and reliable maternal health screening. Click here to book Maternal Serum Screening test.

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NIPT Test

Non-Invasive Prenatal Testing (NIPT) by MedGenome offers a cutting-edge solution for expectant mothers. This advanced screening test analyzes fetal DNA from a maternal blood sample to detect chromosomal abnormalities such as Down syndrome, Edwards syndrome, and Patau syndrome. With a high accuracy rate and no risk to the fetus, NIPT provides valuable insights early in pregnancy. MedGenome's NIPT ensures quick turnaround times and reliable results, empowering parents with crucial information for informed decision-making. Embrace a safer, more accurate prenatal testing experience with MedGenome's NIPT.

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Carrier Screening Test by MedGenome

MedGenome's Carrier Screening Test is a vital genetic test for prospective parents to identify if they carry genes for inherited disorders. This non-invasive test analyzes a blood or saliva sample to detect carrier status for conditions such as cystic fibrosis, sickle cell anemia, and Tay-Sachs disease. Knowing carrier status helps couples understand their risk of passing genetic conditions to their children, enabling informed family planning decisions. MedGenome's comprehensive screening ensures accurate results, providing peace of mind and valuable insights for a healthy future.

[medgenome]

NIPT Test

MedGenome's NIPT service utilizes state-of-the-art sequencing technology to deliver reliable results, empowering expectant parents with crucial information about their baby's health. This non-invasive test represents a significant step forward in prenatal screening, ensuring a safer and more informed pregnancy journey. Click here to book nipt test online.

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FSHD1

MedGenome offers a diagnostic test for Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1), leveraging advanced optical genome mapping technology. This test accurately sizes the D4Z4 repeat region on chromosome 4q35 and differentiates it from the non-pathogenic repeat on 10q26. The analysis provides a precise and sensitive diagnosis, validated with 100% accuracy as per CAP guidelines. As the first lab in South Asia to offer this test, MedGenome ensures high-quality standards and detailed variant interpretation.

For more information, visit MedGenome FSHD1

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Neurogenetics

MedGenome offers comprehensive neurogenetics testing, focusing on diagnosing genetic neurological disorders through advanced techniques like Next-Generation Sequencing (NGS) and Multiplex Ligation-dependent Probe Amplification (MLPA). Their tests cover a range of conditions, including epileptic disorders, neurocutaneous disorders, neuromuscular disorders, neurodegenerative disorders, neuro metabolic disorders, movement disorders, and mitochondrial disorders. MedGenome provides extensive genetic counseling and utilizes state-of-the-art technology to support precise diagnosis and treatment plans for patients with neurological genetic disorders.

For more information, visit the MedGenome Neurogenetics page

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Chromosomal Microarray Test

MedGenome's Chromosomal Microarray Analysis (CMA) is a high-resolution test for detecting copy number variations (CNVs), deletions, duplications, and aneuploidies across the genome. This test is particularly useful for diagnosing developmental disabilities, autism spectrum disorders, congenital anomalies, and various genetic conditions. CMA offers superior resolution compared to traditional karyotyping, providing detailed insights at the exon level. It is ideal for analyzing products of conception (POC) and can detect single-gene disorders with high accuracy.

For more information, visit MedGenome CMA

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Clinical Exome sequencing

MedGenome's Clinical Exome sequencing test is designed to identify genetic disorders by analyzing known disease-associated genes. It uses a curated database including OMIM, HGMD, and ClinVar, covering 6670 genes and both nuclear and mitochondrial DNA. The latest version enhances detection of coding and noncoding variants and CNVs, providing high diagnostic utility at lower costs compared to whole exome sequencing. This test is useful for diagnosing rare diseases, inherited cancers, and various genetic conditions across multiple medical fields.

For more details, visit MedGenome's Clinical Exome page

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Whole Exome Analysis

MedGenome's Whole Exome Sequencing (WES) analyzes the coding regions of the genome to identify genetic variants linked to diseases. This test is crucial for patients with undiagnosed genetic conditions or complex phenotypes, such as intellectual disabilities, metabolic disorders, and cardiomyopathies. Using Next-Generation Sequencing, WES provides a comprehensive analysis with high coverage and accuracy. The results, reviewed by clinical geneticists, are delivered within 28 days, accompanied by free pre and post-test genetic counseling.

For more details, visit MedGenome Whole Exome Analysis.

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RPL Test

MedGenome's Recurrent Pregnancy Loss (RPL) test investigates the genetic causes of multiple miscarriages, which affect about 1-2% of pregnant women. The test identifies chromosomal abnormalities in the products of conception (POC) using techniques like karyotyping, FISH, and Chromosomal Microarray Analysis (CMA). It helps determine if genetic factors such as aneuploidy or structural rearrangements are responsible for the losses. Early identification enables better planning and management for future pregnancies.

For more details, visit MedGenome Recurrent Pregnancy Loss

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Molecular Cytogenetics

MedGenome's Molecular Cytogenetics services provide comprehensive chromosomal analysis for both prenatal and postnatal diagnostics. Utilizing techniques like karyotyping, high-resolution banding, and Fluorescent In Situ Hybridization (FISH), the lab can detect various chromosomal abnormalities including aneuploidies, micro-deletions, and structural rearrangements. They also offer specialized tests for miscarriage analysis, male infertility, and developmental disorders using advanced Chromosomal Microarray Testing. These services are crucial for early detection and management of genetic conditions.

For more details, visit MedGenome Molecular Cytogenetics.

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Maternal Serum Screening

MedGenome's Maternal Serum Screening (MSS) is a set of tests for pregnant women to assess the risk of genetic disorders, birth defects, and pregnancy complications. Conducted during the first (9-13 weeks) and second (15-21 weeks) trimesters, MSS can detect issues such as neural tube defects, Down syndrome, and pre-eclampsia. The Reflex NIPT is available for high-risk pregnancies, providing a non-invasive, highly accurate screening option. MedGenome's advanced technology ensures reliable and timely results, aiding in early detection and informed decision-making.

For more details, visit MedGenome Maternal Serum Screening

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Carrier Screening Test

MedGenome's Claria Carrier Screening Test helps couples planning for a pregnancy by identifying genetic disorders. Using advanced Next Generation Sequencing (NGS) and MLPA technologies, the test detects mutations in over 2,000 genes. It screens for both autosomal recessive and X-linked recessive disorders, providing critical insights into potential genetic risks. The test is recommended for all couples, especially those with a family history of genetic disorders or consanguineous marriages. Results are delivered within 14 to 21 days, accompanied by genetic counseling for informed decision-making.

For more details, visit MedGenome Carrier Screening Test