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About Us: Department of Medical Genetics

 

The Department of Medical Genetics, Manipal Hospital was established in 1997, under the leadership and vision of Dr. Sridevi Hegde. In a span of time, the department has developed into the center of excellence for Genetic services. Manipal Hospital, Bangalore is the only centre in South India that offers comprehensive in-house clinical services for Medical Genetics with state of art diagnostic laboratory under one roof. Patients are referred for genetic counseling and testing from all over India, as well as from Bangladesh, Pakistan, Afghanistan, Sri Lanka, Maldives and UAE.

We are a set up that is continuously striving for excellence in counseling, management, testing and prenatal diagnosis of genetic disorders and follow multidisciplinary approach. We are committed to compassionate patient care, accurate and timely performance of tests and generating new knowledge in the field of genetic disorders. In its commitment to give patients a comprehensive and up to date medical care, Manipal Hospital has started the clinical and molecular cytogenetic division.


Aims of the service

Aims to provide people affected by, or at risk of a genetic condition with accurate information, counselling support and genetic testing as appropriate to each individual. 


The objectives of the service are:
⦁    To assist with making a clinical diagnosis of a genetic condition within the family
⦁    To arrange and interpret genetic tests
⦁    To provide adequate information to families about the condition
⦁    To give information to families about the risks of the condition occurring in themselves or in their offspring, and the tests available to them
⦁    To provide genetic counselling support
⦁    To perform genetic testing 


Services Offered 

We offer comprehensive genetic counselling, genetic testing and diagnostic service to individuals and families affected with genetic disorders. The Department of Medical Genetics is complete with a modern Cytogenetic (Cytogenetic is the study of chromosomes and chromosome abnormalities) laboratory using computerized image analysis system. Fluorescent in- situ hybridization (FISH) studies for various conditions like chromosomal anueploidies, leukemia, translocations etc. The unit comprises of a talented team of doctors, genetic counsellor and cytogeneticists, who work closely together to provide the latest information about procedures to detect a wide range of genetic problems in an unborn foetus. It aims to cater to problems such as birth defects, intellectual disability, autism, developmental delay etc. Preconception medical geneticists assist in the evaluation and counselling of infertile couples or couples with repeated pregnancy losses, and discuss issues related to prenatal diagnosis eg, abnormal ultrasound finding, positive maternal serum screens, family history concerns etc. The unit of Genetics works closely with various other super specialty departments, like Fetal Medicine, Obstetrics and Gynaecology, IVF, Paediatrics, Oncology, Cardiology and Dermatology providing the patient with a multi-disciplinary approach, which in turn provides a holistic solution to their problems. 
 

Primary Services undertaken are:
⦁    Clinics Diagnosis and Genetic Counselling for following : 

⦁    Bad obstetric history
⦁    Children with dysmorphic features
⦁    Intellectual disability of unknown cause
⦁    Neurological abnormalities
⦁    Failure to thrive
⦁    Disorders of sexual differentiation and ambiguous genitalia
⦁    Family history of sibling’s death of unknown cause
⦁    Neural tube defects
⦁    Advanced maternal age
⦁    In-born errors of metabolism
⦁    Cancer Risk assessment 
⦁    Pregnancies with high risk for anueploidies
⦁    Pre Implantation Genetic Screening  (PGS) and Diagnosis (PGD)
⦁    Dysmorphology databases : POSSUM (Pictures of Standard Syndromes and Undiagnosed Malformations), London Dysmorphology Database, London Neuro genetics Database, McKusicks Mendelian Inheritance in Men

FAQs

1.    When do people visit Department of Medical Genetics?

Patients are often referred -
⦁    A person who has a children/relative affected with genetic disorder
⦁    A person who is affected with/is a carrier for a genetic or chromosomal condition reaches reproductive age
⦁    In Pregnancy, when:

  • Pregnancy has been identified to have abnormalities, through ultrasound or invasive or non invasive testing
  • The mother will be 35 years of age or older at the time of delivery

⦁    A child is born with a birth defect or serious medical condition
⦁    There is significant behavioural concern  or developmental delay in a child
⦁    Other family members are planning to have children and a definitive diagnosis is needed for appropriate risk counselling to be provided
⦁    An individual is diagnosed clinically with a possible or definite genetic disorder for which testing is now available

2. What is genetic counselling?

It is the process through which knowledge about the genetic aspects of illnesses is shared by trained professionals with those who are at an increased risk or either having a heritable disorder or of passing it on to their unborn offspring. Because diagnosis and testing will often have an impact on the wider family, the genetic counselling process includes an explanation and risk assessment with any available options for family members.

3.    Will I (my family) be given a specific diagnosis?

All of your doctors are making every attempt to provide you with a diagnosis or to do testing to confirm a diagnosis that has been previously established.  However, it is important to remember that we may not always able to provide a specific diagnosis or offer testing for a specific disease. Genetics is a field that is rapidly advancing but there is still much to discover.  

4.    Do I have to be tested? Will the Genetic Counsellor tell me what to do?

The decision to have genetic testing is personal.  No one can tell you what you should or should not do.  The Geneticist/Genetic Counsellor will explore the benefits and limitations of any test with you so that you can make an informed decision as to whether or not testing is right for you and your family.


5.    What should I expect at a genetics appointment?
The following are a few things you may expect for your Genetic appointment:

  • A collection and review of your medical and family history
  • A detailed physical examination 
  • An explanation about how genetic conditions are passed down through families
  •  Discussion about genetic testing/screening options to help you decide what is best for you and your family
  • An overview of genetic testing/screening results
  • Risk assessment for other members  in your family may be at risk for a genetic disorder
  • Medical information about a suspected or known genetic disorder in the family
  • Resources for you and family about medical specialists, advocacy and support networks and community support services

 

⦁    Lab Services

1.    Karyotype: It is a test to identify and evaluate the size, shape, and number of chromosomes in a sample of body cells. Extra or missing chromosomes, or abnormal positions of chromosome pieces, can cause problems with a person's growth, development, and body functions. A karyotype test usually is done on a blood sample taken from a vein, called Peripheral Blood. The testing can be done on Pre natal tissue sample, bone marrow sample and product of conception.  The testing can be useful in following scenarios: 

⦁    Multiple congenital anomalies
⦁    Developmental delay / intellectual disability/  prenatal growth retardation
⦁    History of miscarriages or reproductive problems
⦁    Primary amenorrhoea / infertility
⦁    Ambiguous genitalia
⦁    Chromosome instability syndrome
⦁    To establish the diagnosis of Leukemia like CML, AML, MDS etc.


FAQs:

1.    What type of test is this?
It’s a test that can be done on following specimen: Blood, Pre natal sample, Bone marrow and Cord blood

2.    Can I directly come for the test or have to book an appointment?
Yes, you can come as a walk in if test has to be done on peripheral blood sample and in this case we only need a request slip from the doctor but for Pre natal diagnosis and Bone marrow karyotyping prior appointment should be taken as sampling involves a procedure that needs to be done by Clinicians.
  
3.    Can I eat food and come?
 
Yes, there is no restriction on food to perform the testing on peripheral blood sample. For Prenatal and bone marrow sampling, a guideline from the Clinicians has to be followed.

4.    How to collect sample for Karyotyping?

  • Peripheral Blood: 2 ml venous blood to be collected in heparin vacutainer tube or heparinised syringe
  • Bone Marrow: 1 to 2 ml bone marrow aspirate to be collected in heparinized syringe. (Rinse 5m1 disposable syringe with 0.5ml of heparin. Push out excess, retain little drop, draw sample into this syringe & mix gently. Sample must reach lab as early as possible).
  • Chorionic Villus & Abortus: Transport Media will be provided upon request.
  • Amniotic Fluid: 20 ml in sterile disposable syringe

5.    How early I can get results?
Your blood karyotyping results will be ready in 10-15 days; Pre natal results will be ready in 15-21 days; Bone marrow will be ready in 10-12 days and Product of conception will be ready in 4 weeks. 

 

2.    Fluorescent in-situ hybridization (FISH): It is a test that "maps" the genetic material in human cells. It is a technique that uses fluorescent probes that bind to only those parts of the chromosome with a high degree of sequence complementarity. It is a rapid test which is commonly used to for following : 
⦁    Chromosomal anueploidies – For major chromosomes (13, 18 & 21)
⦁    Chimerism – Sex chromosomes
⦁    Microdeletions – Syndromes such as Di-George, Angleman/Prader-Willi, Williams-Beuren Syndrome. 
⦁    Oncology – BCR-ABL, PML-RARA, MDS Panel, HER2. 

 

FAQs:

1.    What type of test is this?
It’s a test that can be done on following specimen: Blood, Pre natal sample, Bone marrow and Cord blood.

2.    Can I directly come for the test or have to book an appointment?
Yes, you can come as a walk in if test has to be done on peripheral blood sample and in this case we only need a request slip from the doctor but for Pre natal diagnosis and Bone marrow karyotyping prior appointment should be taken as sampling involves a procedure that needs to be done by Clinicians.

3.    Can I eat food and come?
 
Yes, there is no restriction on food to perform the testing on peripheral blood sample. For Prenatal and bone marrow sampling, a guideline from the Clinicians has to be followed.

4.    How early I can get results?
Some results can be ready in 3-5 days where as some results will take 10-15 days.

 

3.    Prenatal Diagnosis (PND): The test involves testing the fetus before birth (prenatally) to determine whether the fetus has certain abnormalities, including certain hereditary or spontaneous genetic disorders. The test employs a variety of techniques to determine the health and condition of an unborn fetus. Specifically, prenatal diagnosis is helpful for:
⦁    Determining the outcome of the pregnancy
⦁    Planning for possible complications with the birth process
⦁    Planning for problems that may occur in the newborn infant
⦁    Deciding whether to continue the pregnancy
⦁    Finding conditions that may affect future pregnancies
There are a variety of non-invasive and invasive techniques available for prenatal diagnosis. Each of them can be applied only during specific time periods during the pregnancy for greatest utility. The techniques employed for prenatal diagnosis include:
⦁    Non Invasive : Biochemical screening and NIPT
⦁    Invasive : Chorionic villus sampling (CVS), Amniocentesis and Cordocentesis 


Biochemical Screening in Pregnancy

  • First trimester screening (Free β-hCG and PAPP-A) between 10 to 13 weeks, 6 days
  • Second trimester screening (AFP, β-hCG, unconjugated estriol and Inhibin A) between 14 to 20 week, 6 days
  • Pre-Eclampsia Screening (PAPP-A and PLGF) between 11 to 13 week 6 days 

Pregnancy induces major physiological, hormonal and biochemical changes to achieve an optimal outcome for the baby and its mother. When the pregnancy deviates from its normal course, there are many biochemical markers which can be used to assess these abnormalities. As biochemistry is only one part of obstetric care, results should be interpreted in conjunction with clinical and medical imaging data. Biochemical markers are used to assess maternal, placental and fetal health. They help to diagnose and monitor maternal conditions such as pre-eclampsia and fetal chromosomal abnormalities such as Down's syndrome, Edward Syndrome, Patau Syndrome and neural tube defect. These biochemical and hormonal tests constitute only one aspect of obstetric care. They should be used together with clinical findings and imaging, particularly ultrasonography. The following are available test options: 

⦁    First trimester screening (Free β-hCG and PAPP-A) between 10 to 13 weeks, 6 days
⦁    Second trimester screening (AFP, β-hCG, unconjugated estriol and Inhibin A) between 14 to 20 week, 6 days
⦁    Pre-Eclampsia Screening (PAPP-A and PLGF) between 11 to 13 week 6 days 


Remember these are the screening test. A screening test looks at the risk in this pregnancy of the baby being born with Down's syndrome. It does not give a definite 'yes' or 'no' answer. If your screening test shows a higher risk that the baby has Down's syndrome, you will be offered a diagnostic test to see if the baby actually does have Down's syndrome or not. Screening tests do not increase your risk of miscarriage.

Biochemical screening for pregnant women at Department of Medical Genetics is certified by Fetal Medicine Foundation (FMF), making its reports authentic and acceptable across the globe. The Department has collaboration with premier research institutions in India & Abroad. We are using one of the world’s leading technologies from Perkin Elmer who are the pioneers in prenatal and newborn screening.

 
Non Invasive Prenatal Diagnosis
is a DNA test on maternal blood to screen pregnancies for the most common fetal chromosome anomalies: trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome) and sex chromosome but gender of fetus is not determined. The reliability of NIPT test results are 99%.


Invasive Prenatal Diagnosis is a diagnostic test in which a desired sample (tissue/amniotic fluid/cord blood) is taken out from the fetus and appropriate genetic testing is offered in order to identify the well being of the fetus. The method employs are as follows:
⦁    Chorion biopsy
is a procedure for taking a small piece of placental tissue (chorionic villi) (in 10-14 weeks)
⦁    Placenta biopsy is a procedure for taking a small piece of placenta cells (in 14-20 weeks)
⦁    Amniocentesis is a puncture of the fetal bladder for taking some amniotic fluid (in 15-18 weeks)
⦁    Cordocentesis is a procedure for obtaining blood cells from the umbilical cord (umbilical blood sampling) (after 20 weeks)
⦁    In rare cases a fetal tissues biopsy can be performed.
Invasive prenatal testing is used to identify fetus with risk of chromosomal abnormalities (Down’s syndrome, Edwards’ syndrome, etc). Thus, FISH and Karyotyping on chorion/placenta/amniocytes sampling is done. The test is also available for the majority of single gene disorders. Genetic disorders such as Thalassemia, Sickle cell anemia, Spinal muscular atrophy, Duchene muscular atrophy etc. are arising due to gene mutations and can be diagnosed around 12 week of gestation. 

 

4.    New Born Screening: It aims to screen the neonate’s for certain harmful or potentially fatal disorders that aren't otherwise apparent at birth. We offer the testing for seven common parameters that includes Congenital Hypothyroidism (Neonatal TSH), Congenital Adrenal Hyperplasia (Neonatal 17-OHP), Galactosemia (Neonatal Total Galactose), Cystic Fibrosis (Neonatal Immunoreactive Trypsin, 'IRT’), G6PD deficiency (Glucose 6 phosphate dehydrogenase), Biotinidase deficiency (Neonatal Biotinidase) and   Phenylketonuria (Neonatal Phenylalanine)
The WHO has recommended that genetic services should be introduced in countries with an infant mortality rate less than 50. India with an IMR of 40 should carry out newborn screening and genetic services. Newborn screening in general identifies conditions that can affect a child’s long-term heath or survival. Early detection, diagnosis, and intervention can facilitate life-saving treatments and prevent progression towards a disability. 

Newborn Screening at Department of Medical Genetics is a part of external quality assurance program at Center for Disease Control and Prevention (CDC), USA and we are using one of the world’s leading technologies from Perkin Elmer who are the pioneers in prenatal and newborn screening


FAQs:


1.    What kind of sample is required?
We require a heel prick sample on a filter card.

2.    How early my results will be ready?
It takes 7-10 days for your report to be ready.

3.    What is the best time to perform this test?
The best time to perform test is 48hr of life to 10days but it can be done till 1month.

 

5.    Molecular Studies for the Genetic Disorders helps in identifying the disease causing mutation and hence, help in confirming the diagnosis and open up the option of Pre natal diagnosis or Pre Implantation Diagnosis for families. The tests are performed by using conventional PCR, RFLP, MLPA and High throughput technologies – Microarray and Next Generation Sequencing (NGS). 


Microarray (MA)
Molecular Biology research evolves through the development of the technologies. Earlier, it is not possible to research on a large number of genes using traditional methods. DNA Microarray is one such technology which enables to investigate and address issues which were once thought to be non traceable. DNA Microarray technology has empowered the scientific community to understand the fundamental aspects underlining the growth and development of life as well as to explore the genetic causes of anomalies occurring in the functioning of the human body. It is a multiplex lab on a chip that contains a set of DNA sequences representing the entire set of genes of an organism, arranged in a grid pattern for use in genetic testing.
Microarray testing looks for extra (duplicated) or missing (deleted) chromosomal   segments, sometimes called copy number variants (CNVs). It aims to detect Microdeletions and microduplications of chromosome segments, which are too small to see under a microscope by conventional Karyotyping, but may contain multiple genes, abnormalities of chromosome number (trisomy, monosomy, etc.), unbalanced rearrangements of chromosome structure (translocations, etc.). It also allows to detect the expression of many genes in a single reaction quickly and in an efficient manner. 
It is useful for individuals who don’t fit a specific known syndrome (such as Down syndrome), but demonstrate any of the following:
⦁    Developmental delay/intellectual impairment
⦁    Autism spectrum disorders
⦁    Multiple congenital anomalies, including dysmorphic facial features
⦁    Unexplained Abortions or fetus with multiple abnormalities
It has a wide range of application to in Cancer Biology and can be useful to study following:
⦁    Gene expression profiling 
⦁    Identification of single-nucleotide polymorphisms (SNPs) and mutations
⦁    Classification of tumors
⦁    Identification of target genes of tumor suppressors
⦁    Identification of cancer biomarkers
⦁    Identification of genes associated with chemo resistance
⦁    Drug discovery
Depending on the platform, MA may also detect:
⦁    Excessive homozygosity, suggestive of risk for recessive disease or imprinting disorders 
⦁    Triploidy and other duplications of the entire chromosome set (tetraploidy, etc.)


Next Generation Sequencing
Next generation sequencing (NGS) or deep sequencing is related terms that describe a DNA sequencing technology which has revolutionized genomic research. Using NGS an entire human genome can be sequenced at a time. In contrast, the previous Sanger sequencing technology, used to decipher the human genome, required over a decade to deliver the final draft. The unique property allows its broad application to diverse areas which are listed below. The advent of NGS technologies have also presented the opportunities in the direction of personalized medicine

⦁    Oncology: Genomic testing for Cancer involves sequencing of a cancer sample, to find the DNA alterations that are driving the growth of cancer. The testing, in few cases can also be performed on blood sample in order to know the origin of cancer (inherited or somatic). By comparing the genome of a cancer sample/blood sample to that of a reference genome, it is possible to indentify the mutations, which can be the likely cause for cancer. This helps us gain a better understanding of the causes of the tumor and tailor treatment based on these findings.

The common tests are as follows:
1)    BRCA1/2 gene sequencing
2)    Hereditary gene panel/Somatic gene panel
3)    RB1/TP53/VHL/PTEN/RET etc. gene sequencing
4)    AML/ALL/JMML risk stratification gene panel
5)    CML/CLL prognostication/risk stratification gene panel etc.

⦁    Neurology: Neurological disorders are diseases of the central and peripheral nervous system. Neuro genetics is fast emerging as a field and can potentially provide solutions for the development of therapeutic drugs. These drugs could possibly reverse neurodegenerative diseases. There are several hundred neurological disorders that can now be diagnosed molecularly, including hundreds of cognitive and developmental disabilities such as autism spectrum disorders, dozens of inherited ataxias, dystonias, muscular dystrophies, epilepsies, hereditary neuropathy and many more.

The common tests are as follows:
1)    Charcot Marie Tooth and sensory neuropathies gene panel
2)    Dystonia gene panel
3)    Ataxia Telangiectasia (ATM) gene sequencing
4)    Tuberous Sclerosis (TSC1/TSC2) gene sequencing
5)    X-linked mental retardation gene panel
6)    Microcephaly/Lissencephaly gene panel
7)    Hereditary spastic paraplegia gene panel
8)    Muscular Dystrophy and congenital myopathy gene panel
9)    Leukodystrophy gene panel
10)    Epileptic encephalopathy gene panel etc.

⦁    Nephrology: Advancements in genetic techniques are providing novel insights into kidney diseases – especially in diagnosis, classification, pathogenesis and therapy. Many congenital kidney diseases are caused due to single gene disorders and now can be diagnosed by molecular testing.

The common tests are as follows:
1)    Polycystic kidney disease gene panel (ARPKD/PKHD1/ADPKD/PKD1 and PKD2)
2)    Bartter Syndrome gene panel
3)    Alport Syndrome gene panel
4)    Meckel Gruber syndrome gene panel etc.

⦁    Dermatology: There are about 560 inherited skin disorders. These are inherited via either monogenetic or polygenetic transmission. Apart from the medical condition, in certain cases, skin disorders act as a social stigma. Therefore, identifying the underlying cause of the disease and its transmission will help many families. This can be achieved by NGS testing.

The common tests are as follows:
1)    Ichthyosis gene panel
2)    Oculocutaneous albinism gene panel
3)    Xerderma pigmentosum gene panel etc.

⦁    Endocrinology: Hormone assay has been the standard diagnostic and clinical research tool in Endocrinology. The use of technology in molecular biology in the past two decades has advanced the understanding of hormone synthesis, secretion, regulation and action at the cellular level. This is rapidly changing the availability of new diagnostic and research technologies. Genomic approaches have added a new dimension, wherein the contribution of individual genes to endocrine phenomena is not examined in isolation, but by looking at the whole complement of genes.

The common tests are as follows:
1)    Congenital adrenal hyperplasia (21-OH) gene sequencing
2)    Androgen receptor (AR) gene analysis
3)    Congenital Hypopituitarism gene panel
4)    Maturity onset of the young (MODY) and neonatal diabetes gene panel etc.

⦁    Hematology: The inherited disorders of Hematology are the most commonly occurring single gene disorder. In India, the high frequency of consanguinity makes conditions such as anemia, clotting disorders, platelet disorders, bleeding disorders and polycythemia very common. A modern genetic approach to the prevention and management of inherited hematological disorders is helping in reducing infant mortality.
The common tests are as follows:
1)    Alpha thalassemia gene sequencing
2)    Beta thalassemia gene sequencing
3)    Fanconi anemia gene panel
4)    Hemophilia gene panel
5)    Congenital adrenal hyperplasia
6)    Diamond blackfan anemia gene panel etc.

⦁    Immunology: Immunogenetics explores the relationship between the immune system and genetics. Primary immune deficiency, Lymphohistocytosis and other lethal diseases are caused by genetic mutations. Hence, the course and treatment of such immunological disorders are considerably influenced by genetic dispositions. 

The common tests are as follows:
1)    Congenital neutropenia gene panel
2)    Chediak Higashi gene panel
3)    Cystic Fibrosis (CFTR) gene sequencing

⦁    Cardiology: Cardiovascular diseases (CVDs) have emerged as the leading cause of mortality in the world. Most risk factor assessments for CVDs only take into account an individual’s habits (i.e. diet, smoking or exercise) as CVDs are often associated with lifestyle disorders like Diabetes and Obesity. Genetic predispositions often result in altered biological function of the gene, which can result in disease.

The common tests are as follows:
1)    Cardiac channelopathy gene panel
2)    Cardiomyopathy gene panel
3)    Warafrin dosage and Clopidogrel dosage


⦁    ENT disorders: The most prevalent ENT disorders are those that affect hearing. Approximately 1 in 1,000 children is born with a severe hearing impairment, and in at least half of these cases the cause is inherited. In recent years, considerable progress has been made in the field of molecular genetic studies on hereditary sensorineural hearing impairment, and it has recently become possible to make genetic diagnoses based on molecular tests in an increasing number of otologic disorders. When diagnosing ear, nose, and throat disorders, it is important to differentiate genetic disorders from those due to environmental influences. This is often difficult as similar clinical features may be produced by different environmental factors or by different genes or groups of genes.

The common tests are as follows:
1)    Deafness gene panel
2)    Waardenburg syndrome gene panel

⦁    Opthalmology: Almost 50% of pediatric blindness is due to a genetic etiology. The eye is second only to the brain as an individual organ in its frequency of involvement in genetic disorders. Genetic testing is becoming an increasingly important tool in determining the cause of certain eye conditions. For people with inherited eye conditions, genetic testing can detect the disease before symptoms start, and can detect multiple diseases with only one test.

The common tests are as follows:
1)    Bardet Biedl gene panel
2)    Cataract gene panel
3)    Cone rod dystrophy gene panel
4)    Leber congenital amaurosis gene panel

⦁    Connective tissue disorders: Connective tissue is the material inside your body that supports many of its parts. It is the "cellular glue" that gives your tissues their shape and helps keep them strong. There are over 200 disorders that impact connective tissue. Some, like cellulitis, are the result of an infection. Injuries can cause connective tissue disorders, such as scars.

The common tests are as follows:
1)    Marfan Syndrome
2)    Osteogenesis imperfecta gene panel
3)    Ehler Danlos gene panel
4)    Skeletal dysplasia gene panel

⦁    Metabolic disorders:
A metabolic disorder occurs when the metabolism process fails and causes the body to have either too much or too little of the essential substances needed to stay healthy. Inherited metabolic disorders are genetic conditions that result in metabolism problems. Most people with inherited metabolic disorders have a defective gene that results in an enzyme deficiency. There are hundreds of different genetic metabolic disorders, and their symptoms, treatments, and prognoses vary widely. Most of these conditions are life threatening if not treated or managed and is inherited in Autosomal Recessive pattern, thus have 25% recurrence risk.

The common tests are as follows:
1)    Homocystinuria gene panel
2)    Glycosylation disorders gene panel
3)    Glycogen storage disorder gene panel
4)    Mucopolysaccharidosis gene panel 
5)    Fatty acid oxidation disorders gene panel etc.

⦁    Artificial Reproductive Technologies: Genetic testing as part of IVF improves the possibility for a successful pregnancy. 
For those people with recurrent pregnancy loss or infertility, Pre Implantation Genetic Screening (PGS): Embryos are screened for anueploidy (missing or additional numbers of chromosomes), which is a leading cause of miscarriage and implantation failure (failure of the embryo to implant into the uterus). The goal of PGS is to identify chromosomally normal embryos, so they will be attempt to achieve a successful pregnancy.
Preimplantation genetic diagnosis (PGD) involves screening single cells from embryos for genetic diseases and chromosomal disorders. This testing is performed with in-vitro fertilization (IVF) and occurs prior to embryo transfer, before a pregnancy is established. PGD offers at-risk couples the opportunity to select embryos for transfer based on their genetic and chromosomal status. The goal of PGD is to identify abnormal embryos so they will not be transferred, leaving unaffected embryos to be selected for transfer that are more likely to make healthy, and disease-free babies.
PGD can identify the presence of abnormal chromosomal rearrangements and single-gene disorders genetic.

There are over 4,000 single-gene disorders. The most common diseases tested for are Cystic Fibrosis, Tay Sachs, Fragile X, Myotonic Dystrophy and Thalassemia


⦁    Transplantation: HLA typing for patients and donors helps in assessing the closeness of the match and thus helping to select the most appropriate donor for a particular patient. This is crucial to the success of the transplant, as mismatching can result in immune damage to the patient in hematopoietic stem transplantation or rejection in organ transplantation.

⦁    Miscellaneous: 

The advent of NGS has provided us a chance to sequence multiple genes at a same time. There are options to offer Clinical Exome, Whole Exome and Whole Genome sequencing to patients when diagnosis is not clear. Mitochondrial Genome sequencing can also be offered with patient is suspected to have mitochondria disease.

 

Certifications 

Fetal Medicine Foundation (FMF): The Department of Medical Genetics is certified by FMF for biochemical screening for pregnant women, making its reports authentic and acceptable across the globe. The Department has collaboration with premier research institutions in India & Abroad.


Centre for Disease Control and Prevention (CDC): The Department of Medical Genetics is a part of external quality assurance programme with CDC. Thus, making the reports reliable and acceptable across the globe.

 

Education and Research
The Department of Medical Genetics offer the following courses/training programme:

  • One year PG certificate course in Genetic Counseling affiliated by MCOAHS (Manipal College of Applied Health Sciences) under MAHE University, Manipal.
  • 6 month/2months Internship in laboratory or shadowing under the Clinical Geneticist as a part of educational curriculum

The Department of Medical Genetics have successfully completed the following research projects

  • Analysis of brain tumors for mutations in p53 tumor suppressor gene and other cytogenetic abnormalities. 
  • 1.3.2000 - 28.2.2002, funded by Sir Dorabji Tata Center for research in tropical diseases innovation center.
  • New Targets and markers for Cancer using Genomics and Proteomics on Brain tumors (Gliomas).  New Millennium Indian Leadership Technology Initiative (NMITLI Project).                                                                                              31.3.2001 - 31.12.2005, funded by the Council of Scientific and Industrial Research (CSIR).
  • Study of Telomeric Damage patterns in Cancer patients before and after Radiotherapy. 
  • 1.12.2003 - 31.12.2005 funded by Atomic Energy Regulatory Board (AERB), Government of India.
  • A Prospective Study to correlate gene signatures with Clinical outcome of astrocytomas and identification of potential therapeutic target(s). 
  • 1.1.2006 - 31.12.2009, funded by New Millennium Indian Leadership Technology Initiative (NMITLI Project) & the Council of Scientific and Industrial Research (CSIR).
  • Thalassemia 

OUR DOCTORS

Dr. Girish K M

Consultant
Genetics
(Mangaluru)
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Dr. Mitesh Shetty

Consultant
Genetics
(HAL Airport Road - Bengaluru)
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Dr. Sridevi Hegde

Consultant
Genetics
(HAL Airport Road - Bengaluru)
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