MEDICAL GENETICS


About the department


The Medical Genetics Unit is offering consultation and diagnostic services to cater to the needs of patient and families with genetic disorder, dysmorphic syndromes, hereditary diseases and familial cancers from the year 2004 by clinicians trained in the subject of Medical Genetics. These include diagnosis, management and genetic counselling for genetic disorders whichinclude birth defects, known /new chromosomal disorders, dysmorphic syndromes, single gene defects, genetic metabolic defects, multifactorial disorders with a significant genetic component including familial cancers.


Services


Medical Genetics / Clinical Genetics OPD Consultations


  • Monday – Genetic Counselling Clinic 2-4pm at Clinical Genetics unit
  • Tuesday -Genetic Counselling Clinic 2-4pm at Clinical Genetics unit
  • Wednesday/Saturday- Medical Genetics OPD 8am -12 noon at OPD building 250, room no 4,5,6
  • Wednesday (Multispecialty) Perinatal Medicine Clinic 2.30- 4pm at ISSC BUILDING First floor, room no 3
  • Thursday (Multispecialty) Neuromuscular Clinic 2 - 4.30pm at PMR building Room NO. 9

The OPD services can be accessed directly or on the referral basis. To access the services directly cal l/ fix appointment for the desired OPD at 0416-2283429 / 0416-2283430 or mail to reception@cmcvellore.ac.in or appointments@cmcvellore.ac.in


Medical Genetics / Clinical Genetics Inpatient Consultations upon referral


Scope of Consultation: Diagnosis, Genetic counselling and management of


1. Chromosomal disorders

i. Down syndrome, other Trisomies, Turner, Klinefelter syndromes
ii. Microdeletion syndrome, Angelman, Prader-Willi, Rubinstein-Taybi, Williams syndrome, Velocardiofacial syndrome etc
iii. Chromosomal rearrangements including translocations insertions, deletions, inversions and any complex chromosomal anomalies
 

2. Birth defects, multiple congenital anomalies, growth defects Including short stature,undergrowth and overgrowth syndrome including tall stature and obesity.( Beckwith-Wiedemann, Sotos, Neurofibromatosis, Noonan) etc

3. Single gene disorders

i. Duchenne muscular dystrophy(DMD), Fragile – X, X linked mental retardation, Marfan syndrome, Neurofibromatosis , Ehlers-Danlos syndrome, Muscular dystrophies, Spinal muscular atrophy (SMA), Spinocerebellar ataxias etc.
ii. Metabolic and inborn errors such as homocystinuria
iii. Alkaptonuria, Gaucher disease, mucopolysaccharidosis
iv. Many other rare, genetic diseases including mitochondrial disorders
 

4. Familial Cancer

5. Prenatal counselling for diagnosis for chromosomal disorders, single gene disorders

6. Pre-conceptional genetic counselling

7. Treatment of inherited storage disorders and long term management of genetic disorders mentioned above


Molecular tests available for common single gene disorders such as:


1. Achondroplasia, Duchenne muscular dystrophy / Becker muscular dystrophy (DMD/BMD), Spinal muscular atrophy (SMA), Methylation testing for Angelman/Prader Willi, Connexin26, Huntington disease, Myotonic dystrophy, Spinocerebellar Ataxia (SCA 1,2,3, and 7) etc
2. Prenatal testing of the above conditions if indicated with prior informed consent
3. Presymptomatic diagnosis for late onset genetic disorders when indicated with prior informed consent
* Please note many molecular tests are done by other departments of CMC Vellore which can be facilitated through the Clinical genetics Services.

DNA Banking

Diagnostic: This is a facility which is offered for genetic disorders where genetic basis is either not known or in a developing stage or a specific diagnostic test could not be done for certain reasons. Stored DNA can then be used at a later date for genetic counselling, linkage analysis, prenatal diagnosis of the future generations or sibships

Research: In conditions where genetic bass is not known and potential research can be done to develop better therapeutic and diagnostic opportunities in future.

Research Activities

Ongoing projects in Spinocerebellar Ataxia, Gaucher disease, DMD, Autoimmune diseases, Deafness, Mitochondrial genes

Training Programme

Two year Post doctoral Fellowship Program in Clinical Genetics (Post MD); Courses start in August ; For details contact registrar@cmcvellore.ac.in


Contact details

Clinical Genetics Unit
Christian Medical College and Hospital
Vellore 632004
Tamil Nadu India
Telephone +91-0416-2222121/2222716/2222717
(extn 3161/2304) Direct +91-0416-2283161
Fax +91-0416-2211196/ 2232035
Email: medgen@cmcvellore.ac.in