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 3000per 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
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