CELSR2 Gene Genetic Testing for Schizophrenia Risk Assessment in UAE

The CELSR2 gene encodes a cadherin receptor critical for neuronal migration and cortical patterning, and pathogenic variants in CELSR2 have been associated with disrupted neurodevelopment that significantly elevates lifetime schizophrenia risk.

Specifically, CELSR2 (Cadherin EGF LAG Seven-Pass G-Type Receptor 2) belongs to the flamingo subfamily of cadherins and governs planar cell polarity signalling during corticogenesis. Genome-wide association studies (GWAS) and whole-exome sequencing cohorts have identified rare loss-of-function and missense variants in CELSR2 that co-segregate with schizophrenia-spectrum phenotypes in multiplex families. This NGS test interrogates the entire gene to detect single nucleotide variants, small insertions/deletions, and copy-number alterations, providing clinicians with a molecular framework for risk stratification that is unattainable through clinical observation alone.

The test requires a simple blood draw, extracted DNA sample, or a single drop of blood on an FTA card, after which our laboratory performs full-gene Next-Generation Sequencing with orthogonal Sanger confirmation of all clinically reported variants.

Our VIP Mobile Phlebotomy team arrives at your home or office between 8:00 AM and 11:00 PM across all UAE Emirates. A trained phlebotomist collects 2–4 mL of whole blood in an EDTA tube using a single venipuncture. The sample is immediately placed in ISO-certified cold-chain transport (2–8°C) and delivered to our DHA-licensed facility within 4 hours. For patients who cannot provide blood, we accept pre-extracted DNA or a dried blood spot on an FTA card. Once received, DNA is extracted, quantified, and subjected to library preparation for sequencing on the Illumina NovaSeq X Plus platform at 100x minimum read depth. Bioinformatics analysis follows ACMG/AMP variant interpretation guidelines, and all Pathogenic and Likely Pathogenic variants are confirmed by Sanger sequencing before the final report is issued.

Results are delivered within 3 to 4 weeks and include a detailed clinical report classifying variants by ACMG pathogenicity tiers, accompanied by a complimentary telephonic consultation with a DHA-licensed Consultant Medical Geneticist for personalised interpretation.

Each report categorises detected variants into five tiers per ACMG/AMP standards: Pathogenic, Likely Pathogenic, Variant of Uncertain Significance (VUS), Likely Benign, and Benign. A Pathogenic finding in CELSR2 indicates a molecular confirmation of genetic susceptibility and should prompt comprehensive psychiatric evaluation and longitudinal monitoring. A VUS result means the laboratory identified a genetic change whose clinical significance is not yet fully understood — this is common in genomic medicine and does not rule out or confirm risk. A negative result (no Pathogenic or Likely Pathogenic variants detected) reduces but does not eliminate the possibility of schizophrenia, as other genes and environmental factors contribute to disease aetiology. All results include actionable clinical recommendations and, where indicated, guidance for cascade testing of at-risk relatives.

A mandatory pre-test genetic counselling session is required to construct a three-generation pedigree chart and review clinical history; no fasting or medication changes are needed for this germline DNA test.

During the counselling session, the genetic counsellor will document a detailed family history of schizophrenia and related neuropsychiatric conditions, review the patient's clinical history including age of onset and DSM-5-TR diagnostic criteria, and obtain signed informed consent. The consent process covers genetic data processing provisions under UAE PDPL. For minor patients, consent must be provided by a legal guardian with documentation as per Federal Decree-Law No. 4 of 2016. No dietary restrictions or fasting is required, and patients should simply disclose all current medications during the clinical intake.