Diagnostics

The recent advancement of molecular diagnostics in the field of medicine has led to the identification of the genetic basis of many diseases. With the utility of the same, the Department of Medical Genetics at JSS Hospital, Mysuru has state-of-the-art advanced facilities that cater to the diagnostic needs of the patients and families with genetic disorders in and around the Mysuru district. We are currently performing

  • Karyotyping to diagnose birth defects, genetic anomalies, mental retardation, neurological and muscular problems, bad obstetric history, infertility, amenorrhea, ambiguous genitalia any other conditions with a familial basis.
  • Fluorescent In-situ Hybridization (FISH) on blood, cord blood, and amniotic fluid for prenatal genetic studies to diagnose familiar syndromes like Down syndrome, Edward’s syndrome, Patau syndrome, Klinefelter syndrome, and Turner syndrome.
  • FISH - BCR/ABL1 for hematological malignancies.
  • HER2/neu tissue FISH for breast cancer patients.

JSS Hospital is the first organization in this region to offer these genetic tests at an affordable price. The Laboratory works in conjunction with the Genetic Counseling clinic and other clinical departments to deliver the best clinical outcomes at JSS Hospital. The laboratory facilities are also used to train undergraduate and postgraduate students in the Department of Medical Genetics, Biochemistry, and Pathology.

The Cytogenetics Laboratory has obtained NABL accreditation and has plans to increase its scope of investigations to have a holistic approach towards the management of any disease condition.

Additional facilities that will be established are as follows.

  • Targeted Sanger sequencing for monogenic diseases.
  • Tandem Mass Spectrometry (LC-MS/MS) technique for therapeutic drug monitoring (TDM) and inborn errors of metabolism (IEM).
  • Chromosomal / SNP microarray for identification of copy number variations in genetic diseases.
  • Next-generation sequencing (whole exome sequencing/gene panel testing) for all rare diseases and cancer management.
SI No Test Name Test Method Sample type# vaccutainer required/Volume TAT
01 Blood Karyotype – Single Karyotype Peripheral Blood Sodium Heparin(Green top)/4 ml 10 days
02 Blood Karyotype – couple Karyotype Peripheral Blood Sodium Heparin(Green top)/4 ml 10 days
03 Cord blood Karyotype* Karyotype Cord Blood Sodium Heparin(Green top)/2-4 ml 10 days
04 Amniotic Fluid Karyotype* Karyotype Amniotic Fluid Sterile container/15-20ml 2-3 weeks
05 Bone marrow/Leukemia blood -Karyotype Karyotype Bone marrow/Leukemia blood Sodium Heparin(Green top)/2-4 ml 7 days
06 BCR/ABL1 FISH Bone marrow/Leukemia blood Sodium Heparin(Green top)/2-4 ml 5 days
07 HER2/Neu FISH FFPE Block/Positive coated slide - 5 dyas
08 Prenatal Aneuploidy screening (chromosome 13,18,21,X and Y)* FISH Amniotic Fluid/Sterile container Sterile container/10-15ml 5 days
09 Prenatal Aneuploidy screening (chromosome 13,18,21)* FISH Amniotic Fluid/Sterile container Sterile container/10-15ml 5 days
10 Prenatal Aneuploidy screening (chromosome 21)* FISH Amniotic Fluid/Sterile container Sterile container/10-15ml 5 days