Diagnostic Center for Cytogenetics and Molecular Genetics

We have established a cytogenetics and Molecular Genetics services in K S Hegde hospital. It is situated in K S Hegde Medical Acadamy (KSHEMA), NUCSER 3 floor. The centre is well equipped with advanced Flurescence microscope systems for perfoming high quality of cytogenetics and molecular genetics services.

Cytogenetics

Chromosomes are the thread like structures within the nucleus of each cell that contains DNA molecule (Genetic information). Any changes in the genetic makeup will cause direct or indirect adverse effects within the individuals.

Chromosomes are the vehicles of inheritance that reside in the cell nucleus. Clinical cytogenetics is the study of the relationship of chromosomal alterations (Translocation, Inversion, Duplication, Deletion, Ring Chromosome and Markers) and genetic diseases in human beings. Conventional Cytogenetics deals with the identification of the abnormalities through Karyotyping.

Who can do this test?

Indication of the patients will dictate what kind of sample to be procured & sent for testing to the Cytogenetics & Molecular Genetics Laboratory. Clinical indications varies from children to adults.

In Infants & Children

  • Newborn/ Child with Multiple Congenital Abnormalities
  • Dysmorphic Facial features
  • Mental Retardations/ Obesity/ Muscular Hypotonia
  • Short Stature
  • Suspected Turner Syndrome
  • Precocious puberty
  • Ambiguous Genitalia/ Hypogonadism/ Gynecomastia
  • Abnormal Growth/ Delayed Development Milestones
  • Possible Tissue Specific Mosaicism
  • Environmental exposure to known Mutagens or Carcinogens
  • Confirmation of Prenatal Diagnosis
  • Chromosome Instability Syndrome

In Adults

  • Advanced Maternal Age
  • Couples with Recurrent Spontaneous Abortions (RSA) , Intra Uterine Growth Retardation (IUGR), Intra Uterine Demise (IUD), Stillbirths (SB)
  • Couples with Infertility/ Reproductive problems
  • Previous Foetus/Baby With Congenital Anomalies
  • Previous or family history of Congenital/Chromosomal Abnormality
  • Detection of Foetal Abnormality on Ultrasound study (USG)
  • Abnormal Prenatal Biochemical Screening Risk Profile
  • Increased risk to foetus for Inborn Metabolic Error (IME)
  • Suspicion of Dysmorphic Syndrome
  • Suspicion of Gonosomal abnormalities
  • Primary/ Secondary Amenorrhoea/ Irregular periods
  • Diagnosis of Cancer (specifically leukaemia, lymphoma, and breast cancer)
  • Environmental exposure to mutagens or teratogens

Chromosome and molecular tests can be performed on

  • Peripheral blood
  • Bone Marrow
  • Product of conception
  • Skin Tissue
  • Prenatal Samples : Chorionic villi samples, Amniotic fluid, Cord blood

Molecular cytogenetics

Molecular cytogenetics is the study of genetic disorders using new technologies that combine cytogenetic and molecular techniques. Fluorescence In Situ Hybridization (FISH) is a powerful technique for detecting chromosomal

changes in the cells and is one of the most frequently used techniques in the study of structural cytology of the cell nucleus. It provides a reliable means for studying the genetic composition of cells in mitosis as well as in interphase. The technique is highly sensitive where individual genes can be detected and has high multiplicity of several probes can be used on target nucleus.

Prenatal Diagnosis of Anueploidies by FISH:

  • Rapid and reliable results can be given within 24-48 hours of the sample arrival to the laboratory.
  • nterphase FISH can be used to detect aneuploidies of chromosomes 13, 18, 21, X and Y from Amniotic fluid (AF), Chorionic villi sampling (CVS) and Fetal blood sample (FBS).

Indications:

  • Previous baby/pregnancy with Anueploidy
  • Advanced maternal age
  • Triple screening test positive / first trimester screening test positive
  • Abnormal Ultrasound findings

Future Expansion:

Postnatal Diagnosis: Detection of Microdeletion Syndromes. Eg- DiGeorge syndrome, Prader – Willi/Angelman Syndrome, William’s syndrome.

Preimplantation Genetic diagnosis (PGD): Involving interphase FISH can decrease the risk to transfer an affected embryo eg: trisomy 21 or X-linked disease eg: DMD, Haemophilia etc.

Cancer Genetics : Used for diagnosis, prognosis and follow-up of Hematologic malignancies.

Contact Details
Dr. Prashanth Shetty PhD
Coordinator – Genetics Laboratory
KSHEMA, NITTE
Ph – 2204491 Extn – 249
Mobile – 9448348007
E-mail – drprashanth@nitte.edu.in