Test Price
2,800 AED✅ Home Collection Available
WDPCP Gene Bardet‑Biedl Syndrome Type 15 Genetic Test in UAE – 2800 AED – NGS Sequencing
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 15189‑accredited NGS processing using Illumina NovaSeq X Plus with deep coverage and ACMG 2023 variant interpretation.
Premium Logistics: VIP mobile phlebotomy and temperature‑controlled cold‑chain home collection available daily from 8 AM to 11 PM for whole blood or buccal swab samples.
Clinical Guidance: Complimentary 15‑minute telephonic post‑test genetic counselling session with a DHA‑licensed genetics professional to help interpret results.
Insurance: Direct billing verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This advanced genetic test analyses the full coding region of the WDPCP gene (including ±10 bp flanking intronic regions) to confirm Bardet‑Biedl syndrome type 15, a rare autosomal recessive ciliopathy. The test uses next‑generation sequencing (NGS) on an Illumina NovaSeq X Plus platform, with a minimum depth of 50× and inclusion of copy number variant (CNV) detection. Variants are classified according to ACMG 2023 guidelines, and a comprehensive report is provided.
| Feature | Our Test (Premium) | Standard Alternative |
|---|---|---|
| Methodology | NGS on Illumina NovaSeq X Plus with 100% coverage of WDPCP exons ±10 bp flanking introns, CNV detection included | Sanger sequencing only (limited to preselected variants) |
| Diagnostic Precision | >99.9% sensitivity, >99.9% specificity; ACMG 2023 variant interpretation | Variable; lower analytical sensitivity for mosaicism |
| Turnaround Time | 3–4 weeks from sample receipt; expedited reporting available | 4–6 weeks or longer |
| Home Collection | VIP mobile phlebotomy & cold‑chain home collection, 8 AM–11 PM daily | Often not available or surcharge applied |
Physician Insight & Safety Protocols
“As a DHA‑licensed consultant in medical genetics, I emphasize that a positive WDPCP result must be correlated with detailed renal, retinal, and endocrine phenotyping. This test is a powerful tool, but it is not a standalone diagnosis; a thorough clinical evaluation and genetic counselling are essential to guide management and family planning. I encourage you to discuss every finding with a multidisciplinary team.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Medication and Treatment Continuity
Medication Warning: Do not discontinue prescribed medication without consulting your doctor. Genetic test results do not replace ongoing therapeutic management, particularly in cases of renal impairment or hormonal disorders like diabetes insipidus or hypothyroidism that may be associated with Bardet‑Biedl syndrome.
Exclusion Criteria & Emergency Red Flags
Important Safety Information
- Exclusion Criteria: Acute febrile illness requiring urgent care; inability to provide informed consent; known coagulopathy unless a buccal swab or FTA card is used. All sample collection follows the consent requirements of Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- Emergency Red Flags – seek immediate care if you experience: Sudden vision loss, severe abdominal pain with vomiting (possible renal crisis), or acute onset polydipsia/polyuria in a known BBS patient.
Patient FAQ & Clinical Guidance
1. What does a positive WDPCP gene mutation confirm?
A positive result with a known pathogenic WDPCP variant confirms the clinical diagnosis of Bardet‑Biedl syndrome type 15, a multisystem ciliopathy affecting kidneys, retinas, and the neuroendocrine axis. This molecular diagnosis guides prognosis, targeted surveillance for renal failure and blindness, and informs reproductive risk for family members. Any detected variant is classified according to ACMG 2023 guidelines, and a copy of the variant interpretation report is provided.
2. What is the importance of genetic counseling before this test?
A pre‑test genetic counseling session is essential to construct a family pedigree, determine the recessive inheritance pattern, and assess risks for siblings and offspring. It helps obtain informed consent and ensures accurate interpretation of results, especially when variants of uncertain clinical significance are identified. We recommend all patients attend a counseling session with a DHA‑licensed genetic counselor.
3. Can this test be performed on a newborn or child?
Yes, the WDPCP genetic test can be performed on a newborn or child using a blood spot (FTA card) or a small whole blood sample, following explicit parental consent in compliance with UAE Federal Decree‑Law No. 45 of 2021 on Personal Data Protection and applicable health regulations. Testing minors for Bardet‑Biedl syndrome should be done when clinical signs (polydactyly, renal anomalies, early‑onset obesity) are present or when a family‑specific mutation is known. A paediatric geneticist must be involved in pre‑ and post‑test counselling.
UAE Regulatory & Data Privacy Adherence
This test is performed in full compliance with Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. All genetic data is encrypted, stored securely, and accessed only by authorized personnel. Laboratory processing follows ISO 15189 and CAP/CLIA standards under DHA supervision. Patient consent for genetic testing is obtained in accordance with Federal Decree‑Law No. 4 of 2016 on Medical Liability.
ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | WDPCP Gene Bardet‑Biedl Syndrome Type 15 Genetic Test using NGS |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks from sample receipt |
| Sample Type / Matrix | Peripheral whole blood (EDTA) or buccal swab; FTA card acceptable for neonates |
| Methodology Used | Next‑Generation Sequencing (NGS) on Illumina NovaSeq X Plus; full gene sequencing with CNV detection |
| ICD‑10‑CM Code | Q87.89 |
| LOINC Code | 21612-7 |
| DHA Facility License & Address | DHA Facility License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE (DNA Labs UAE) |
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ISMS 27001:2022
ISO Accredited
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All reports reviewed by DHA-Certified physicians