Genetic Diseases Research and Diagnostics team at CEMB

Services & products

Genetic Diseases Lab

Comprehensive clinical electrophysiology, genetic counseling, and Sanger gene sequencing for inherited hearing loss, vision impairment, and intellectual disability.

Genetic Diseases Research & Diagnostic Lab

Accredited capabilities & testing scope.

With over two decades of groundbreaking research and an archive of 3,500 enrolled consanguineous families, the Genetic Diseases Lab has mapped 26 novel deafness loci, 25 vision impairment loci, and 52 intellectual disability genes in Pakistan. The diagnostic division translates this immense clinical repository into direct patient testing and genetic counseling.

3,500+ consanguineous families enrolled 26 novel hearing & 25 vision loci mapped Full electroretinography (ERG) suite Professional pre-marital & family counseling

Available Testing & Tariffs

Genetic Diseases Lab Rate List.

Test / Assay Specifications & Methodology Turnaround Approved Rate
01 Full-Field Electroretinography (ERG) Bilateral clinical electroretinography testing for retinal dystrophies and retinitis pigmentosa Same-day report Rs 6,000 / both eyes
02 Clinical Genetic Counseling Comprehensive family pedigree analysis, risk estimation, and recurrence counseling Per consultation Rs 3,000 / patient
03 Deafness Gene Sequencing Targeted Sanger sequencing for Pakistani hearing-loss causative genes (e.g., GJB2, SLC26A4) 7–10 days Rs 3,000 / reaction
04 Clinical Pure-Tone Audiometry Diagnostic audiometric hearing evaluation and frequency threshold measurement Same-day report Rs 1,500 / test
05 Blindness Gene Sequencing Targeted sequencing for Glaucoma, congenital cataract, and Retinitis Pigmentosa loci 7–10 days Rs 3,000 / reaction
06 Whole Exome Sequencing & Variant Analysis Next-generation WES with bioinformatics curation of pathogenic variants in novel families 3–4 weeks Quotation upon request

Rates are official institutional charges approved for healthcare providers, public institutions, and industry clients. For large batch sizes or custom academic projects, please verify with the laboratory coordinator.

Quality & Chain-of-Custody

Sample collection & submission guidelines

Adhering to correct specimen handling and preservation standards ensures reliable diagnostic accuracy and legal admissibility.

  • Clinical Assessment: Patients requiring ERG and Audiometry should schedule appointments 48 hours in advance; please bring previous ophthalmology or ENT records.
  • Sample Submission: 5 mL EDTA whole blood required for sequencing; include clinical pedigree and phenotype summary.
  • Counseling: Both partners/spouses are strongly encouraged to attend genetic counseling sessions.

Laboratory Specialists

Speak with the Genetic Diseases Research & Diagnostic Lab team.

For testing inquiries, sample submission protocols, turnaround status, or reporting queries, reach out directly to our scientific team.

Sample Drop-off & InquiriesGround Floor, Old Laboratory Block, Centre of Excellence in Molecular Biology, 87-West Canal Bank Road, Thokar Niaz Baig, Lahore-53700

HoursMon–Fri
08:30 – 16:30 hrs

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