PRODUCT AND SERVICES GENETIC DISEASES LAB

The scientists at the Genetic Diseases lab have been working for the last 20 years for identifying potential genes. 3500 consanguineous families with the history of Genetic Disorders including Hearing Impairment, Vision impairment and Intellectual Disability have been enrolled. So far, this group made massive progress in the gene identification, which has led to discovery of 26 new autosomal recessive non syndromic hearing loss loci, one novel deafness modifier gene, 25 new loci and 21 novel genes for vision impairment and 52 novel genes for Intellectual Disability in Pakistani population. Clinical finding (Phenotypes), Identification of genetic loci and genes involved enhance our understanding of the genes function at a molecular level, leading to better genetic counseling, family screening and possible future development of better treatment in all the above stated disorders.

Genetic Diseases Lab

1

Electroretinography

Rs 6000 per
patient for both eyes

2

Genetic Counselling

Rs 3000 per
patient for genetic disorders

3

Gene Sequencing for
Deafness gene

Rs 3000 / Reaction

4

Audiometry

Rs 1500 / Test

5

Gene Sequencing for
Blindness gene
(Glaucoma, Cataract, Retinitis Pigmentosa Gene)

Rs 3000 / Reaction

6

Exome Sequencing and Data analysis

Price will be available upon request

 

The further information about the services can be obtained by emailing
Dr Asma Ali Khan          asma.ali@cemb.edu.pk
    Dr M Asif Naeem           asif.naeem@cemb.edu.pk