Our Services
Chromosome analysis or karyotyping:
Cytogenetics is a field of study that deals with chromosomes and related abnormalities. Chromosome analysis is also known as karyotyping and involves the pairing of homologous chromosomes. Abnormalities in chromosomes cause several genetic disorders leading to developmental delay, congenital malformations, mental retardation, and infertility. Karyotyping is a routinely used test for examining the structure and number of a person’s chromosomes, thus detecting abnormalities, if any. Karyotyping can help in infertility diagnosis providing an explanation for the cause and also indication on the risk of having a child with a genetic condition. The cytogenetic investigation before assisted reproduction techniques (ART) is of crucial importance for the detection of chromosomal abnormalities and prevention of their transmission to the offspring and also to find different approaches to infertility treatment for the carriers of chromosome abnormalities.
Fluorescent in situ hybridization (FISH)
FISH is a cytogenetic technique, using fluorescent DNA probes to examine the presence of small chromosomal changes that are beyond the resolution of karyotype analysis. A systematic hybridization protocol is followed to achieve signal amplification of the target of interest and visualized under a fluorescent microscope. FISH can be applied to detect genetic abnormalities like aneuploidy, structural aberrations and microdeletions. We offer a range of prenatal and postnatal tests based on this technique like Sperm FISH, Prader-Willi/Angelman, SRY and many more.
Preimplantation Genetic Testing – aneuploidies (PGT-A)
PGT-A is a diagnostic tool used to reduce implantation failures in In Vitro Fertilization (IVF) pregnancies. We use Next Generation Sequencing technique (NGS) to perform PGT-A, which delivers highly detailed, accurate, and scalable results for improved selection of euploid embryos (embryos with the correct chromosome number). It aims at reducing the rate of abortions/miscarriages that result due to abnormal chromosome numbers, thus improving the chances of an IVF pregnancy and a healthy baby.
Pre implantation Genetic Testing for monogenic disorder (PGT-M)
This test involves checking for variation/s in specific gene/s in the embryos of patients who are usually carrier/s for a particular genetic condition but are not themselves impacted by the condition. In this procedure, the sequence of the gene that causes the genetic disorder is sequenced in the parents and the affected child (if any) to look for the causal variation/s. A few cells are removed from healthy growing embryos, to select those embryo(s) that do not carry the variation/s and are therefore free of the disease condition for which the couple are at risk.
β-Thalassemia is one of the most common single-gene disorder for which the permanent cure is only Hematopoietic stem Cell Transplantation (HCT). PGT-M-HLA can be used to select the unaffected (HLA)-identical normal embryo to that of the affected sibling that can act as a savior child. We have done PGT-M for Beta thalassemia, Duchenne Muscular Dystrophy Osteogenesis Imperfecta, Glycogen storage disorders etc.
Pre implantation Genetic Testing for Structural rearrangement (PGT-SR)
This test encounter chromosomal abnormalities such as translocation (Reciprocal and Robertsonian) and inversion. A translocation is change in chromosome structure in which chromosomes are attached to each other or pieces of different chromosomes have been interchanged. An individual with a translocation is unaffected if there is no extra or missing chromosome material and if the break in the chromosome did not disrupt gene function.
Couples with balanced rearrangements have the danger of generating embryos that have an inadequate quantity of chromosomal material, which usually result in miscarriages. PGT-SR will help to identify the chromosomally balanced embryos which can lead to healthy pregnancy.
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Non-Invasive Prenatal Screening (NIPS)
With the latest improvement in the technology NIPS has enabled a new, safe and highly accurate method to detect common aneuploidies like Down syndrome, Edwards’s syndrome and Patau syndrome with a simple blood draw from the mother. This test analyses cell-free fetal DNA (cffDNA) which circulates freely in the maternal blood which is used to detect if the fetus is at risk for certain genetic conditions. The test has a detection rate of 99% and is therefore considered very sensitive.
Human leucocyte antigen (HLA)
Human leukocyte antigens play an important role in the body’s immune response to foreign substances. But in some cases, it may cause diseases such as auto-immune disorders. A mismatch in HLA between a donor and recipient after organ transplantation can result in graft rejection due to antibody production. In case of pregnancy, the mother’s and father’s HLA alleles must differ to some extent in order to develop immunological tolerance for the fetus. Therefore, couples with significant matching alleles for HLA genes may have a higher likelihood of repeated implantation failure, and recurrent pregnancy loss.
