Dr. Jayarama S Kadandale:

Clinical and molecular cytogenetic tests:

A total of 1543 samples (Peripheral blood, amniotic fluid, chorionic villi, fetal blood, skin biopsy and Bone marrow) were analysed/investigated by karyotyping (154 samples chromosomally abnormal) and reported to various hospitals/research institutions like, Indira Gandhi Institute of Child Health (IGICH), Bangalore Fetal Medicine Centre (BFMC), NIMHANS, Anand Diagnostics, Narayana Hrudayalaya, Rao's Genetics Lab and Research Center, St. John's Medical College, Columbia Asia Hospital (Bangalore), SSIMS, Davanagere, Institute of Maternal and Child Health (IMCH), Calicut, Lilac Insights, Mumbai, Sree Avittom Thirunal (SAT) Hospital (Thiruvananthapuram), Amrita Institute of Medical Sciences (Kochin), Sandor proteomics, Genetech, Sree Konaseema Hospital (Hyderabad).

GTG banded slide analysis:

We have analysed a total of 460 cases (GTG banded stained slides) from Lilac Insights, Mumbai. The stained slides were from cultured amniotic fluid (AF), chorionic villi (CVS) and peripheral blood sample (PB).

Fluorescence in situ hybridization (FISH) based diagnostics:

A total of 1205 samples were analysed for FISH based aneuploidy detection, microdeletions and haematological cancers.
Out of 911 prenatal (amniotic fluid and CVS) samples studied, 8 were positive for aneuploidy and 2 were triploidies. Out of 259 samples analysed for microdeletions (Williams, DiGeorge, PWS/AS, Cri-Du-Chat and Rubinstein syndrome), 52 were positives for microdeletions. Out of 35 samples tested for haematological cancer 4 were positive for CML.

Expert Second Opinion provided to Hospitals/Institutions:

Samples were received for second opinion from:

Institute of Maternal and Child Health (IMCH), Calicut, Sree Avittom Thirunal (SAT) Hospital (Thiruvananthapuram), Amrita Institute of Medical Sciences (AIMS) (Kochin), Sandor proteomics (Hyderabad), Genetech, (Hyderabad), SreeKonaseema and Harsha Hospital (Amalapuram, AP), DNA Labs, Malaysia, Krishna IVF Center, Vishakaptnam, AP, Regional Cancer Center, Trivandrum, Narayana Hrudayalaya, St. John,s Medical college, Columbia Asia Hospital (Bangalore), Sir Gangaram Hospital, Delhi, Moulana Azad Medical College, Delhi. Appollo Hospital, Chennai and Hyderabad, Madras Medical Mission (MMM), Chennai, All India Institute of Basic Medical Sciences, Chennai.
We have confirmed eleven samples referral of additional material found on chromosomes by using differential staining techniques like Ag-NOR staining, C-banding and FISH/SKY, the additional material found were confirmed as normal variations on different chromosomes [1qh+, 9qh+, inv(9), 13p+, 14p+,15p+, 22p+, inv(9)] and also the translocations between acrocentric chromosomes [t(Y;22); t(Y;15); t(13;21), t(14;21) and t(15;21)]. We have combined FISH and SKY in identifying several marker chromosomes/translocations [t(1p;11p;3p;4p); idic(Y); der(13); der(10)t(X;10)); t(12q;14q).
We have analysed 21 samples suspected for chromosome breakage syndromes (Bloom syndrome, Fanconi's aneamia) and confirmed 8 of them as Fanconis aneamia/Bloom syndrome with multiple chromosome/chromatin breaks.
We have confirmed marker/derivative chromosomes in question, found in cultured bone marrow (cancer), peripheral blood (genetic abnormalities) and prenatal samples in 8 cases sent from different cytogenetic laboratories - SAT hospital (Trivandrum), Apollo Hospital (Chennai), Samad Hospital, Cochin, Mediscan (Chennai), Sree Konaseema Hospital, Krishna IVF clinic, Sandor Proteomics (Hyderabad), IMCH (Calicut), CIMAR hospital, Kerala by applying FISH and PRINS [ der(15); der(13); dup(9q); der(10q)],

Disorders of sexual development:

A total of 37 cases suspected for mosaicism for sex chromosomes and or sex chromosome abnormalities (phenotypic males with 46,XX chromosome complement, females with 46,XY chromosome complement and patients with ambiguous genitalia) were tested by FISH.

Spectral karyotyping (SKY):

A total of 14 samples were analysed by SKY to confirm two way and three way (complex) translocations, duplication, insersion, addition and also to identify marker chromosomes like47,XY,+der(22); mos 47,XX,+der(19)[20]/46,XX[5]; 46,t(12;14)(q24.3;q32)mat [cryptic translocation - prenatal]; 46,t(4;10)(q12;q26); 47,XX,+der(15); 46,XX,t(12p;18p); 46,t(Xp;10q); 47,XY,+der(22)t(11;22);

Culture of Skin biopsy:

We have cultured and done chromosome analysis from 8 skin biopsy samples and also cultured skin biopsy samples from Epidermolysis Bullosa patients.

Immortalization of B-lymphocytes by Epstein-Barr virus (EBV):

A total of 84 peripheral blood samples from individuals with genetic abnormalities have been EBV transformed and the cells are stored in Liquid N2 for further studies.
We have extended the EBV transformation facility to several Institutions/Medical Hospitals: JNCASR, Narayana Nethralaya, Manipal Hospital, Rainbow Hospital, Hyderabad, Sri Siddhartha Medical College & Hospital (Tumkur), CDFD (Hyderabad), University of Delhi, South Campus (New Delhi), Sri Gangaram Hospital (New Delhi), AIIMS, Delhi, Samad IVF Hospital (Trivandrum), Amritha Institute of Medical Science & Research, Kochi.

Dr. Meenakshi Bhat:

Clinical work:

A total of 1506 families with genetic disorders were evaluated, tested and counselled at CHG and hospitals served by CHG in this calendar year. The families attending government hospitals and those holding below poverty line (BPL) cards have had all consultations and genetic tests done without charge at CHG.
Besides regular diagnosis, select clinical cases with rare disorders have been included in joint clinical research projects in conjunction with colleagues in India and abroad. These include:
Gaucher disease: modifier genes in L444P homozygotes: with Prof. Timothy Cox, University of Cambridge, UK
Autosomal recessive cutis laxa (15 families): with Prof. Uwe Kornak, Max Planck University, Berlin
Oro-facio- digital (OFD) syndrome (6 families): for causative gene studies. With Prof. Anuranjan Anand, JNCASR, Bangalore
Ongoing project of Noonan syndrome (250 cases enrolled) with Dr Swathi Shetty, CHG
Systemic infantile hyalinosis (13 cases): with Dr Gurudatta Baraka, CHG
Glycogen storage disorder (all types-43 cases): with Dr Swathi Shetty, CHG

Lysosomal Storage Disorders (LSDs):

Over the last 6 yrs, LSD diagnosis and management has been a target area of interest.
Member, Indian Medical Advisory Board, Genzyme charitable access programme for free enzyme replacement therapy (ERT) to patients with treatable LSDs.
We have the largest patient group in the state with LSDs evaluated, and with all clinical details catalogued. Around 400 patient families are currently registered with our centre.
These include 35 families with Gaucher disease, 130 with MPS, 43 patients with Glycogen storage disorders, 5 each with Pompe and Fabry disease.
Of 100 patients receiving free ERT under this programme in India, 11 patients are under my care at CHG and related hospitals. Of these, 8 have Gaucher disease, one with MPS1, one with juvenile onset Pompe disease and one with Fabry disease.

Acute Inborn Metabolic Disorders (IMDs):

Since the last year, addressing patient referrals for acute IMDs and providing optimum management has been the focus of clinical activity. The commonest disorders seen in this group include Phenylketonuria (PKU), Organic acidaemias such as Glutaric Aciduria (GA), Methyl Malonic acidaemia and Propionic academia as well as other aminoacidopathies such as Maple Syrup Urine Disease (MSUD).
These medical disorders require early identification, immediate treatment and optimal management of altered metabolite levels in the infants' blood to prevent morbidity and mortality.

Dr. Swathi Shetty:

Molecular Diagnostics Services:

Molecular Diagnostics Services has been functioning to full capacity and we are offering testing for common and rare inherited disorders. We have recently added the following new tests to those available previously:

1. Quantitative PCR test for Spinal Muscular Atrophy.

This detects the heterozygous and homozygous deletions in exon 7 of the SMN gene, which is the most frequent cause of SMA.

2. MLPA test for common microdeletion syndromes

This includes probes which detect the following syndromes. 1p36 deletion syndrome; 2p16 microdeletion; 2q23microdeletion/MBD5;2q33 microdeletion/SATB2;3q29 microdeletion;9q22.3 microdeletion;15q24 deletion syndrome;17q21 microdeletion;22q13/Phelan-McDermid;Cri du Chat syndrome, 5p15;DiGeorge syndrome 22q11;Distal 22q11 region; DiGeorge region 2, 10p15;Langer-Giedion syndrome, 8q;Miller-Dieker syndrome, 17p;NF1 microdeletion syndrome;Prader-Willi/ Angelman;MECP2/Xq28 duplication;Rubinstein-Taybi syndrome;Smith-Magenis syndrome;Sotos syndrome 5q35.3;Williams syndrome; Wolf-Hirsch horn 4p16.3.

3. MLPA test for common Mental Retardation Syndromes: This includes probes for the following regions.

1p36 deletion syndrome;4p16 Wolf-Hirschhorn syndrome;5p15 Cri du Chat syndrome;5q35 Sotos syndrome;7p21 Saethre/Chotzen syndrome;7q11 Williams-Beuren syndrome;8q24 Langer-Giedion syndrome;11p13 WAGR syndrome;15q11 Prader-Willi/Angelman syndrome;16p13 Rubinstein-Taybi syndrome;17p13 Miller-Dieker syndrome;17p11 Smith-Magenis syndrome;20p12 Alagille syndrome;22q11 DiGeorge syndrome;22q13 Phelan-McDermid syndrome.

4. Mutation analysis for Fibrodysplasiaossificans progressive (FOP).

A total of 609 samples were processed and analyzed in the laboratory during this year. As opposed to the last two years numbers (2014-15-353 and 2013-14- 465). There has been a marked increase in number of diagnostic samples analysed and reported. Samples included peripheral blood, amniotic fluid and chorionic villi. Samples were received from various hospitals, clinics, diagnostic laboratories and research institutes including Amrita Institute of Medical Sciences, All India Institute of Medical Sciences, Indira Gandhi Institute of Child Health (IGICH), Bangalore Fetal Medicine Centre (BFMC), NIMHANS, Anand Diagnostics, Narayana Hrudayalaya, Rao's Genetics Lab and Research Center, St. John's Medical College, Columbia Asia Hospital (Bangalore) and Institute of Maternal and Child Health (IMCH), Calicut.

Dr. Nishtha Pandey:


The Centre has a central DNA sequencing and genotyping facility which provides services to laboratories involved in molecular diagnostic and research work at the Centre. It houses an eight-capillary Sanger Sequencer from Applied Biosystems, the 3500Dx Genetic Analyzer. The services supported include:
1.Sanger sequencing from amplified PCR products and plasmid DNA
2.Genotyping of PCR amplified fragment
3.Specialized genotyping for diagnostics
Detection of fragile-X repeat expansion
Detection of maternal contamination in prenatal samples
Multiplex Ligation-Dependent Probe Amplification-based detections.
A total of 5871 samples were processed by the sequencing facility between April 1, 2015 and March 31, 2016 (Table 2 below). The facility was running three to four batches for sequencing and a single batch for genotyping with a provision for processing up to 200-250 samples per week during this period. At the facility about 14,000 sequencing and 225 genotyping samples have been processed since its inception.