Genetic's

      Prenatal Diagnosis

       Postnatal Diagnosis

       Bone marrow study

       FISH (Fluorescence in situ hybridization)

       PCR (Polymerase chain reaction)

GYNECOLOGIST / OBSTETRICIAN ++

       Prenatal Diagnosis.

       Products of Conception

       Cytogenetic Study (Karyotyping)

       Molecular Genetic Study

NEONATOLOGIST / PEDIATRICIAN ++

       Cytogenetic Study (Karyotyping)

       Fragile X Syndrome

HEMATOLOGIST ++

       Cytogenetic Study (Karyotyping)

       FISH (Fluorescence in situ hybridization)

TEST FOR CHROMOSOME STUDY ++

       Lymphocyte Culture For Karyotyping [Single]

       Lymphocyte Culture For Karyotyping [Couple]

       Fetal Blood Sample For Karyotyping

       Products Of Conception [POC]

       Bone Marrow

       Amniotic Fluid [AF]

       Chorionic Villus Sample [CVS]

       Fragile X Syndrome

       Chromosome Breakage Syndrome

       High Resolution Chromosome Study

       High Resolution Chromosome Study [Couple]

       Buccal Mucosa For X - Y Study

FISH INVESTIGATION FOR LEUKEMIA/PRENATAL ANEUPLOIDY ++

       BCR/ABL [CML, AML, ALL]

       PML/RARA [AML - M3] [ APML]

       AML1/ETO [AML - M2]

       TEL/AML1 [ALL]

       C MYC [ALL, NHL]

       TRISOMY 12 [CLL]

       TRISOMY 21 [PRE NATAL SAMPLES - AF / CVS]

       PRENATAL CHROMOSOMES [13,18,21, X & Y]

       TRISOMY 8 [AML, CML]

PCR STUDY ++

       PRENATAL THALASSAEMIA

       FRAGILE "X" SYNDROME

       "Y" CHROMOSOME MICRO DELETION

       TB PCR QUALITATIVE

       HIV PCR QUALITATIVE

       HBV PCR QUALITATIVE

       HCV PCR QUALITATIVE

       HPV PCR QUALITATIVE

       H. PYLORI PCR QUALITATIVE

       SICKLE CELL ANAEMIA

STD (SEXUALLY TRANSMITTED DISEASES)
DMD (DUCHENNE MUSCULAR DYSTROPHY)
MYOTONIC DYSTROPHY
CMV PCR
PRENATAL TRISOMY (13, 18, 21, X & Y)
TORCH PANEL

 

Since time, field of medicine has expanded in all the fronts and its advantages to the mankind are tremendous. In the new era of information technology and globalization, the essential technologies and expertise in the developing countries has shown its outstanding performance and capabilities and growth towards new horizon. Because of the world becoming smaller and smaller, frequent information and interactions with the advanced world has encouraged the young generations to view and rethink their ideas and goals for their future prospects.

In the field of medicine, the new dimension was set in 70’s, when the world saw a fraction of light, which nobody had idea would revolunise the world of medicine in the next century. It’s the discovery of genetic medicine. In the initial front the applications of genetics were not considered till the human genome project started. In billions of copies of DNA material only few are helpful for maintaining cell of a living being. There are 50,000 genes identified which functions our body.

From the insect in our kitchen, to the bird in the sky, from the virus giving us common cold, to the human baby crying in the crib, all organisms are created, directed, controlled and run on the basis of their genetic blueprints. But just like machinery defects, as errors creep into our genome, they give rise to abnormalities and diseases. Detecting and diagnosing any disease can help us in more ways than one.

A NEW ERA IN MEDICINE

The science of genetics has undergone a phenomenal development in last three decades and now has come to occupy as the super speciality within the rim of clinical medicine in most health centers in west and now in our country, too.

We are very happy to introduce genetic investigations services to the people of INDIA, through grand city of Hyderabad.

WHAT IS GENETICS?

Chromosome disorders, biochemical genetic disorders and other genetic disorders of polygenic and Multifactorial origin have varying prevalence. E.g. multiple childbirths. Couple with older age group mothers are known to cause birth of trisomic infants. These conditions are so widely prevalent in our country that the incidence of child born with Down syndrome is not only on the increase but is much more above the figures quoted in western literature.

HOW ARE THE GENETIC DISORDERS INVESTIGATED?

Human chromosomes are composed of DNA (genes), which provide the basic information to develop, maintain and reproduce an entire human being. All of this information is contained in 46 chromosomes. The chromosome complement includes 22 pairs of autosomes and either XX (female) or XY (male) sex chromosomes. In a body every nucleated cell contains this complement, therefore the analysis can be performed on any dividing cell type (lymphocytes fibroblasts, bone-marrow cells etc.)  As mentioned above, these cells provide considerable information

    sex chromosome abnormality ( Klinefelter’s and Turner’s syndromes etc.) Autosome related abnormality with changes in modal number, translocations or rearrangements (Down’s syndrome, infertility, or increased spontaneous abortions). Chromosome breakage following exposure to radiation or chemicals with increased gaps, breaks and the presence of fragments.

    A second population of cells for cytogenetic study is the leukemic cells. Leukemic blast cells are found primarily in bone-marrow and under certain conditions in the peripheral blood. After culturing these cells, the chromosome pattern is studied for modal number, the presence of specific translocations ( i.e. classical  Ph’ chromosome t(9;22), and unusual structural rearrangements. The presence of marker chromosome is often valuable in identification of the malignant population during therapy.

    population of cells to study are those derived from fetus in Utero. During gestation, the fetus sheds cells into the amniotic fluid. At around 16 weeks, the clinician can locate the fetus with sonography and remove 20-30 cc. of A.F for analysis. These cells are cultured which takes around 15-25 days and ultimately chromosomes are studied for any abnormality. 

The laboratory uses several methods for determination of fine structure and identification of individual chromosomes. These include Giemsa-trypsin banding, quinacrine fluorescence and centromere banding techniques. On each specimen 20 well spread cells are analysed and photographed. In case of mosaicism, more cells are examined. We are proud to say that most recent introduced updating auto karyotyping system by us is playing excellent  and exclusive role in analyzing the chromosomes leading much more sensitive & specific results.

Novel laboratory techniques are often the driving force behind new ideas in science. Certainly the use of cytogenetic studies for clinical testing literally exploded in the ‘60s and ‘70s because of new discoveries. In the 1980s the techniques of molecular biology were applied to cytogenetic preparations. We call this “hybrid” technology molecular cytogenetics, and it is transforming the way we study chromosomal changes in humans. It has improved the detection of indeed in some cases defined, microdeletion syndromes. The supernumerary markers can be identified and we now have a real potential of predicting phenotype for marker carriers, benign or adverse. With molecular cytogenetic techniques, we can now detect some chromosomal abnormalities in nondividing cells with interphase nuclei. Standard cytogenetics requires actively dividing cells with metaphase nuclei. Some constitutional chromosomal abnormalities and phenomena such as mosaicism and chimerism can be addressed without growing cells in culture or in cell types that do not adapt well to tissue culture. Potentially, chromosomal aneuploidy studies (i.e. studies looking for abnormalities in chromosome number) can be done more quickly. Preserved, rather than fresh, tissue can be investigated for retrospective studies. We can ask questions of chromosome organization, its relationship to gene expression and tissue specificity in ways that were not possible a few years ago.

In recent years the possibilities for visualizing several chromosomal targets simultaneously has meant that Fluorescence In situ Hybridization (FISH) analysis has an increasing role to play in the study of patient samples. The clinical cytogenetics service laboratory no longer focuses on the morphological analysis of chromosomal aberrations alone, but now has provided comprehensive molecular cytogenetic analysis of diverse gene sequences consistently involved in certain classes of cancer and a variety of human genetic diseases.

    This increased clinical utility is due firstly to the diversity of DNA probes now available for the study of specific chromosomal changes in human cells, largely as a direct result of the success of the human genome project.

    Secondly, to the improvements in both labeling techniques, that has greatly facilitated the rapid transition of FISH from an esoteric research technique to one that fulfills a vital function in the clinical cytogenetics service laboratory.  
     

    Finally, because valuable clinical information can often be obtained quickly by assessing the FISH signals present on interphase nuclei it is no longer always necessary to go through the lengthy process of preparing and analyzing metaphase cells derived from patient samples.                   

Specific FISH probes and diagnostic protocols are now widely used for prenatal studies, dysmorphology and as tumour-specific markers. Many new specific FISH clinical tests can assay for subtle chromosomal changes that would have been impossible to detect by conventional G-banded analysis. Target preparations for FISH analysis include metaphase and interphase cells derived from standard cytogenetic preparations as well as archived embedded histological material and fixed cytological preparations.

As we grow in the field of genetics more important investigations are now possible to study which was never thought about. The newest among all is the DNA study routinely carried on by PCR (Polymerase chain reaction) the noble prized winning technology. The ever improving technology and the sensitivity and specificity of the tests have markedly increased the requirement of the medical doctors. DNA based tests are used in cases of infectious diseases, genetic disorders and number of other related investigations.

The DNA of interest is isolated from bacteria, virus, humans, etc according to the requested investigation by using standard protocol. Specific area of DNA is amplified (more number of DNA are made) by PCR machine and run on electrophoresis to check the DNA results. The DNA studies carried out at SN GENE LAB has been standardized and correlated with other routine investigations done in different laboratories. The primers are designed for Indian mutations (for example, in case of thalassaemia) and are specific and sensitive compared to other probes. In the initial phase some of the most common studies are included and more tests would be routinely added after standardization.

Each report includes an interpretation normal or abnormal, and description of the observed alteration. If the abnormality is observed, the relevant literature is cited and specific recommendations for genetic counseling are made.

WHICH ARE THE DISORDERS REQUIRING GENETIC TEST?

       Congenital defects in newborn

       Unexplained mental & physical retardation

       Spontaneous and habitual abortions

       Primary amenorrhoea

       Severe Oligospermia and azoospermia

       Ambiguous genitalia unexplained IUGR or IUFD or abnormal fetus in utero

       Preimplantation genetics

       Blood cancers

       Certain malignant tumors