PRECISION IN EVERY GENE, CARE IN EVERY TEST

Reproductive genomics focuses on the use of advanced genetic technologies to support fertility, pregnancy care, and healthy family planning. It involves analyzing the genetic makeup of individuals, embryos, or fetuses to identify inherited conditions, chromosomal abnormalities, and other factors that may affect reproductive outcomes.

This field includes tests such as carrier screening, preimplantation genetic testing (PGT), prenatal screening and diagnosis, non-invasive prenatal testing (NIPT), and genetic evaluation of pregnancy loss. By providing early, accurate, and actionable information, reproductive genomics helps clinicians guide couples in making informed decisions, improving reproductive success, and ensuring better maternal–fetal health outcomes.

Chromosome analysis provides a "hawkeye view" of an individual's genetic information.  Missing, extra, or rearranged chromosome material may be responsible for such diverse problems as birth defects, mental retardation, infertility, repeated miscarriages ,leukemias.  Analysis of chromosome can aid in the diagnosis, prognosis and monitoring of such ailments and thus it is vital tool for medical geneticists along with pediatrician, obstetricians, gynecologist, perinatologist ,hematologist, oncologist, endocrinologist, pathologist and general physicians .

 Chromosomal Microarray (CMA) is a high-resolution genetic test that detects chromosomal imbalances such as microdeletions, microduplications, and regions of absence of heterozygosity that are too small to be seen on conventional karyotyping.

It is widely used in evaluating individuals with developmental delay, intellectual disability, congenital anomalies, autism spectrum disorders, and in prenatal settings when abnormalities are identified on ultrasound. CMA provides a genome-wide assessment, offering higher diagnostic yield and more precise insights into genetic alterations, helping clinicians make informed decisions for patient care and management.

Gene Care Is equipped with India's 1st FDA/IVD approved Affymetric Microarray System

Non-Invasive Prenatal Screening (NIPS) is a highly sensitive screening test that analyzes cell-free fetal DNA circulating in the mother’s blood to assess the risk of common chromosomal conditions. It can detect abnormalities such as Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), Patau syndrome (Trisomy 13), and sex chromosome aneuploidies with high accuracy.

NIPS is completely safe for both mother and baby, requires only a blood sample, and can be performed as early as 10 weeks of pregnancy. While it is a screening—not diagnostic—test, its high detection rates make it a powerful tool for early prenatal risk assessment and guiding further diagnostic decisions when needed.

Preimplantation Genetic Testing (PGT) is an advanced reproductive technology performed on embryos created through IVF to assess their genetic health before implantation. Small samples of cells from each embryo are analyzed to identify chromosomal abnormalities, specific single-gene disorders, or structural rearrangements—depending on the PGT type (PGT-A, PGT-M, PGT-SR).

PGT helps select embryos with the best chance of leading to a healthy pregnancy, reduces the risk of inherited genetic conditions, and improves IVF success rates. It is commonly recommended for couples with known genetic disorders, recurrent pregnancy loss, advanced maternal age, or previous IVF failures.

Genetic carrier screening helps a couple understand their risk and probability of passing on inherited genetic disorders, such as sickle-cell anemia, spinal muscular atrophy, to their children. We carry two copies of our genes in our DNA; one copy from each parent. A gene has two versions, a dominant and a recessive version (allele). Dominant alleles express themselves even if an individual only has one copy of that allele. Recessive alleles express themselves only when an individual has both copies of that allele. Certain disorders are recessive genetic disorders caused by the presence of two recessive alleles, such as cystic fibrosis and spinal muscular atrophy. When two healthy parents are both carriers of a causative recessive allele, there is a 25% probability that they will both pass their recessive alleles to their child with a devastating outcome.

 FISH is a highly sensitive molecular cytogenetic test that uses fluorescent DNA probes to detect specific chromosomal abnormalities. It helps identify aneuploidies, microdeletions, duplications, and gene rearrangements with fast turnaround time. 

The complete set of genetic information in an individual is referred to as the whole genome. Exons, the protein-coding regions of the genome, collectively form the exome. Whole Exome Sequencing (WES) is a widely adopted approach that sequences the entire coding portion of the genome, including splice junctions, to identify clinically relevant variants.

At Gene Care, our Whole Exome Sequencing assay utilizes efficient exome enrichment to detect a broad spectrum of coding variants—including SNVs, indels, and CNVs—supporting diverse applications such as population genetics, rare disease diagnosis, and cancer research.

When investigating the underlying cause of a disease, researchers and clinicians often begin with the genome. However, with over 3.2 billion bases in the human genome, it is both practical and cost-effective to focus on regions most likely to yield actionable insights. Target enrichment panels allow selective sequencing of these informative regions. Choosing the appropriate panel is crucial for obtaining high-quality, meaningful data. Gene Care provides two key options at this stage: small, disease-focused panels (Clinical Exome) and comprehensive Whole Exome panels, enabling precise and reliable genomic analysis tailored to clinical needs.

 Tumors harboring homologous recombination deficiency are highly susceptible to PARP inhibitors, which exacerbate double-stranded DNA breaks and drive apoptosis in HRD-compromised cells. Therefore, HRD profiling and detection of HRR gene mutations have emerged as critical biomarkers for predicting therapeutic benefit from PARP inhibition. Homologous Recombination Deficiency is calculated by proprietary algorithm developed at  Gene Care Diagnostics Lab based on three biomarkers (loss of heterozygosity, telomeric allelic imbalance and large-scale state transitions).

The Hereditary Breast and Gynecologic Cancers Panel targets genes implicated in adult-onset hereditary breast and gynecologic malignancies, including ovarian, uterine, fallopian tube, and peritoneal cancers. Given the significant genetic overlap among these conditions, panel-based testing offers an efficient strategy for evaluating multiple cancer susceptibility genes simultaneously.

Some included genes may also be associated with unrelated phenotypes. Testing can refine diagnosis, inform prognosis, direct risk-reduction strategies, guide reproductive counseling, and support enrollment in precision-medicine trials.

This panel is optimized for detecting germline variants and should not be used for identifying somatic alterations in tumor DNA.

 The Hereditary Cancer NGS Panel is a comprehensive genetic test designed to identify inherited mutations that increase an individual’s lifetime risk for developing various cancers. This panel analyzes key cancer-predisposition genes using advanced Next-Generation Sequencing (NGS) to enable early detection, personalized risk assessment, and proactive clinical management.  Hereditary cancers contribute to nearly 5–10% of all cancer cases. These cancers arise due to pathogenic variants passed down through families, often affecting genes involved in DNA repair, tumor suppression, and cell-cycle regulation. Identifying these variants can guide preventive strategies, surveillance plans, and targeted treatment options. 

 Liquid biopsy is a minimally invasive blood-based test that detects cancer-related genetic changes in circulating tumor DNA (ctDNA). It helps in early diagnosis, treatment selection, therapy monitoring, and identifying resistance mutations without needing a tissue sample. Liquid biopsy provides rapid, real-time insights into tumor evolution, making it especially useful when tissue is not accessible or repeat biopsies are required. 

Advanced multi-gene profiling assays designed to detect clinically significant mutations, copy number changes, fusions, and other actionable biomarkers across a wide range of solid tumors. These panels support personalized treatment planning, prognostication, and eligibility for targeted therapies and immunotherapies. 

Our Hematological Malignancies NGS Panel is a comprehensive, high-resolution assay designed to detect clinically relevant genetic alterations across leukemias, lymphomas, MDS, MPN, and myeloma. This panel covers key driver mutations, gene fusions, and copy-number changes that are essential for accurate diagnosis, prognosis, and targeted therapy selection.