Department of Pathology

Division of Pathology Genetics

Pathology Genetics

Division Overview

The Division of Pathology Genetics includes Molecular Genetics, Cytogenetics and Molecular Oncology Diagnostic facilities. Supported by the Translational Genomics Core facility, they provide Genetic & Genomic analyses as well as diagnostic testing and expertise for congenital, inherited and acquired diseases. The most up-to-date, state of the art technology platforms and methodologies are utilized. Our staff continually strive to improve our assays by increasing detection rates for abnormalities and decreasing turnaround times, to provide the best possible patient care.

Division Services

Consultation Support to Physicians on Genetic Issues

DNA Fragment Analyses - Trinucleotide repeat disease testing - MLPA for targeted duplication or deletion diseases

Fluorescent In-Situ Hybridization

Genetic Counseling

Molecular Microarray Karyotyping

Multi-Gene Panel Sequencing

Non-Invasive Prenatal Testing - NIPT

Pharmaco-Genomic Testing

Pre-Conception Screening

Pre-Marital Screening

Pre-Natal Screening

Pre-Natal Testing

Predictive Genomics Genetic Susceptibility Risk Profiling

QF-PCR for trisomy screening

Single Gene Sequencing

Whole Exome Sequencing

Whole Genome Sequencing

Sidra outpatient clinic location map

“Patients and family members, if you are visiting the Sidra Outpatient Clinic, please follow the directions provided in this map for accurate directions. We ensure this map is always current and updated with any changes in routes.”

Contact

Operating Hours

Sunday - Thursday07:00 am - 03:00 pm


Marios Kambouris


Senior Attending Physician

Publications by the division

Severe Clinical Presentation in Monozygotic Twins with 10p15.3 Microdeletion Syndrome

American Journal of Medical Genetics, 164:3, 764–768, 2014...
Vargiami E, Ververi A, Kyriazi M, Papathanasiou E, Gioula G, Gerou S, Al-Mutawa H, Kambouris M, Zafeiriou D

Published: 1 August 2014
Author(s): Marios Kambouris

Multiple coronary artery microfistulas in a girl with Kleefstra syndrome

Case Reports in Genetics, Volume 2016, Article ID 3056053, 5 pages, 2016...
Vargiami E, Ververi A, Al-Mutawa H, Gioula G, Gerou S, Rouvalis F, Kambouris M, Zafeiriou D

Published: 1 April 2016
Author(s): Marios Kambouris

Two Hits in One: Whole Genome Sequencing unveils LIG4 syndrome and Urofacial syndrome in a Case Report of a Child With Complex Phenotype

BioMedCentral [BMC] Medical Genetics, 17:84, 2016...
Fadda A, Butt F, Tomei S, Deola S, Lo B, Robay A, Al-Shakaki A, Al-Hajri N, Crystal R, Kambouris M, Wang E, Marincola FM, Fakhro KA, Cugno C

Published: 1 June 2016
Author(s): Marios Kambouris

Mosaic Partial Pericentromeric Trisomy 8 and Maternal Uniparental Disomy in a Male Patient with Autism Spectrum Disorder

Clinical Case Reports, 2016...
Ahram D, Stambouli D, Syrogianni A, Al-Sarraj Y, Gerou S, El-Shanti H

Published: 1 August 2016
Author(s): Marios Kambouris

Biallelic SCN10A Mutations in Neuromuscular Disease and Epileptic Encephalopathy

Annals of Clinical and Translational Neurology, 2016...
Kambouris M, Thevenon J, Soldatos A, Cox A, Stephen J, Ben-Omran T, Al-Sarraj Y, Bone W, Mullikin J, Masurel-Paulet Alice, St-Onge J, Dufford Y, Chantegret C, Thauvin-Robinet C, Faivre L, Riviere JB, Gahl W, Boulos H, Bassuk A, Malicdan MC, El-Shanti H

Published: 1 October 2016
Author(s): Marios Kambouris

Events and Activities

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