Human Genetics Unit – Services

Haematology & Haemato-oncology Clinic

The haematology and haematooncology clinic is held every Thursday from 9.00 am to 12.00 noon Those seen in this clinic include patients with,

  • Thalassaemaia
  • Haemophilia
  • Leukaemias
  • Haemachromotosis
  • Polycythemia
  • And all other haematological and haematooncological conditions

 

Ophthalmogenetics Clinic

The ophthalmogenetics clinic is held every Friday from 9.00am to 12.00 noon.
Children and adults with congenital and inherited opthlmological conditions are seen in the clinic.

 

SKELETAL DYSPLASIA CLINIC

The clinic is designed to identify individuals that appear to have familial or hereditary bone dysplasia with or without dysmorphic features, and provide a thorough evaluation of the condition, genetic counseling and education which will be beneficial for the patients and their families. Working in concert with the patients’ physicians, Surgeons and Radiologist will give more benefits for the patients to get better view and understanding of   their disabilities.

The services you get  Individualized risk assessment for all forms of skeletal   dysplasia  considering systematic approach. Arrange Screening facilities from reputed reference labs local and Overseas. Genetic counseling for affected families Patient education  Indications for Referral

Congenital skeletal dysplasia patients (isolated cases)

Skeletal dysplasias occurring  in multiple generations. Two or more close relatives (1st or 2nd degree relatives) with the same deformity or dysplasia. Multiple deformities in a individual.

Diagnosed skeletal dysplasia  in a family member. In addition to the above mentioned specific indications, If any person  having a relative with skeletal dysplasia may seek the services of the clinic.

Tests for Achondroplasia is currently available. We plan to introduce more tests in the near future with your  Demand and Request.

You are welcome to direct Your referrals To

Skeletal dysplasia Genetics Clinic,
Human Genetics Unit,
Faculty of Medicine,
University of Colombo,
Kynsey Road,
Colombo 08

On Every Monday From 08:00am  to 04:00pm
Please call/e-mail to book an appointment prior to sending patients for better care.
Telephone: 0112689545
Email: office@hgucolombo.org

Cytogenetics Testing

Test Name Specimen/ Container Cost Reporting Time
Peripheral Blood Karyotyping 3ml Blood (Sodium Heparin) Rs. 7,500/- 28 Days

 

Molecular Genetics Testing

Test Name Specimen/ Container Cost Reporting Time
Genetic Thrombophilia Screen -(Factor V 1691G>A, Prothrombin 20210G>A, MTHFR 677C>T) 3ml Blood (K.EDTA) Rs. 4,500/- 14 Days
Factor V 1691G>A (Leiden) Mutation 3ml Blood (K.EDTA) Rs. 1,500/- 14 Days
Prothrombin 20210G>A Mutation (Factor II) 3ml Blood (K.EDTA) Rs. 1,500/- 14 Days
Methylene tetrahydrofolate reductase (MTHFR) 677 C>T Mutation 3ml Blood (K.EDTA) Rs. 1,500/- 14 Days
Detection of the JAK 2 V617F Mutation 3ml Blood (K.EDTA) Rs. 3,500/- 14 Days
Hereditary Haemochromatosis – HFE C282Y and H63D Mutations 3ml Blood (K.EDTA) Rs. 4,000/- 14 Days
Beta Thalassaemia Common Sri Lankan Mutation screening (HBB) 3ml Blood (K.EDTA) Free 28 Days
Alpha Thalassaemia Deletion screening (HBA) common 3ml Blood (K.EDTA) Free 28 Days
SRY Gene Detection 3ml Blood (K.EDTA) Rs. 4,000/- 7 Days
Y-Chromosome Microdeletion Detection 3ml Blood (K.EDTA) Rs. 4,000/- 14 Days

 

FISH

Test Name Specimen/ Container Cost Reporting Time
Detection of 22q11 Deletion (DiGeorge syndrome) 3ml Blood (Sodium Heparin) 14 Days

 

New-born Screening

Panel Code Disorders Price
Hb+FS+ Hb+FS+ 57 Disorders Rs. 12,000/-
FS+ FS+ 51 Disorders Rs. 11,000/-
FS FS 49 Disorders Rs. 10,500/-
MS MS 45 Disorders Rs. 8,500/-
Bio6 B6 6 Disorders Rs. 5,000/-
Bio5 B5 5 Disorders Rs. 4,000/-
Bio4 B4 4 Disorders Rs. 3,000/-
Hb+ Hb+ 4 Disorders Rs. 1,500/-

Please refer to the NeoGen_Price_Panel_LKR- 30. 08.2013NeoGen Labs Leaflet for screening panel descriptions & pricing