The Institute of Medical Genetics and Genomics was created in 1997. It has
grown over the years into a leading genetic centre in India. More than 7000
patients are counselled every year and about 20,000 tests are performed every
year. The patients and samples are referred from all over India as well as our
neighbouring countries.
The institute has fi ve sections (clinical, molecular, cytogenetic, biochemical
and HLA and immunogenetics). The faculty consists of a good mix of clinical
geneticists and PhD scientists, along with paramedical staff. The institute offers
the comprehensive services for diagnosis, counselling, prenatal diagnosis and
management of patients with genetic disorders.
The institute has been awarded the FICCI award for 2017 for preventive
care in India. The institute is a member of the Undiagnosed Diseases Network
International and has initiated the Indian – Undiagnosed Diseases Programme.
Clinical genetics
The Clinical Genetics Department has the diagnostic expertise for all genetic
disorders and recently there has been an expansion of its services into genomics.
The spectrum of patients seen at our centre are as follows:
Paediatrics:
- Children with malformations, intellectual disability, autism – protocoldriven evaluation
- Neuromuscular and neurogenetic disorders
- Metabolic disorders – both diagnosis and treatment using special dietary
therapies, ERT
- Short stature – syndrome diagnosis, hormonal, skeletal dysplasias, MPS,
etc.
- Thalassaemia, haemophilia and other blood disorders – the most
experienced laboratory for prenatal diagnosis of haematological disorders
in India.
Foetal medicine:
Prenatal diagnosis and counselling is provided for
- Cases of a previous child with suspected genetic problems or another
family member with genetic disorder
- Maternal serum screen-related issues (triple, quadruple and fi rst trimester
tests, PIGF)
- Foetal congenital anomalies as seen on ultrasound, or growth problems or
foetal demise
- Recurrent spontaneous miscarriages, or bad obstetric history, PGD
- Foetal autopsy is performed comprehensively – recommended in
pregnancies terminated for antenatally diagnosed foetal malformations,
skeletal dysplasia, intrauterine growth retardation (IUGR) and intrauterine
demise (IUD)
Genetics in other related specialties:
- Neurology, dermatology, ophthalmology and ENT, cardiology, nephrology,
gastroenterology, haematology, oncology, etc.
DrNB programme
At our institute there is a 3-year DrNB-super-specialty course in medical genetics
started in 2014. Genetic fellows are involved in clinical genetic evaluation as
well as with laboratory work.
They are provided training in clinical and metabolic genetics including
evaluation of a suspected genetic disorder patient or family. Genetic counselling
and treatment of genetic disorders remains the main focus of their training.
They are also trained in laboratory work – to understand and also perform
many molecular, cytogenetic and biochemical tests. Prenatal diagnosis and
foetal medicine forms a major bulk of clinical genetics work, and fellows are
comprehensively trained in the two fi elds in their DrNB training. Since the inception of the programme in 2014, three DrNB fellows have received a gold
medal for their exemplary performance in the subject.
Research
Despite being a busy clinical and laboratory service for genetic tests, research
fi nds an important place in the departmental activities. Many projects completed
in the past have added new information on genetic disorders in India. The
institute has a large number of publications (over 200) to its credit. Six research
projects are ongoing while 13 research projects have been completed.
Laboratory services
The four laboratories (cytogenetics, molecular, biochemical and HLA genetics)
function independently and are headed by expert PhD doctors. About 20,000 tests
are carried out each year. Our molecular genetics laboratory has expanded its
repertoire of tests to include next-generation sequencing including examination
of fastq fi le for genomic data analysis. We have to our credit the identifi cation of
many novel genes.
The molecular genetics lab performs ~630 types of tests (about 4500 tests
per year). The tests range from PCR to advanced tests based on NGS. The
cytogenetic section performs 40 types of tests (approximately 5000 tests per
year), including chromosomal microarray analysis. The biochemical section
performs ~125 types of tests (nearly 10,500 tests per year). Tests include enzyme
assays on fi lter paper for lysosomal storage disorders, NBS, quantitative amino
acids (UPLC), organic acid analysis (GC-MS), etc. The HLA section performs
40 types of tests (about 4100 tests per year). It also performs sophisticated tests
such as donor-specifi c for single antigen as well as screening. It also perform test
for relationship to check for relationship of subjects coming for transplantations.
All the labs are most experienced in prenatal diagnostics in the country –
prenatal samples (AF/CVS/Cord blood) are processed in the most precise, clean
and timely manner, with results obtained between 2 day to 14 days. Sample
types and requirements (other than prenatal samples):
- Molecular studies (DNA-based or gene studies): 3–4 ml blood in EDTA
vial
- Cytogenetic studies: For karyotyping and FISH studies – 3–4 ml blood
in heparin vial. For chromosomal microarray analysis – 3–4 ml blood in
EDTA vial. To contact us for cancer cytogenetic testing.
- Biochemical genetics and HLA tests – as there are many tests, therefore it is
best to enquire from lab before sending samples
- For all tests, an informed consent form is required, along with
appropriate clinical history and indication for test
- For prenatal samples, laboratory should be informed in advance
regarding sample shipment and requirements
At the Institute of Medical Genetics and Genomics, we are a group that is
continuously striving for excellence in counselling, management, testing and
prenatal diagnosis of genetic disorders. We are committed to compassionate
patient care, accurate and timely performance of tests, and generating new
knowledge in the fi eld of genetic disorders in India.
Address: Room no: 027, Behind Casualty, Ext: 1993
