Test Price
2,800 AED✅ Home Collection Available
SLC12A1 Gene (Bartter Syndrome Type 1) Next-Generation Sequencing (NGS) Genetic Test in UAE | 2800 AED | DHA & PDPL Compliant
Executive Summary & Core Metrics
Test Overview & Methodology
The SLC12A1 Genetic Test analyses the entire coding region of the SLC12A1 gene to detect pathogenic variants responsible for Bartter syndrome type 1, a rare renal salt‑wasting tubulopathy. This advanced next‑generation sequencing assay delivers definitive molecular diagnosis with exceptional clinical sensitivity, guiding personalised management and family planning decisions.
| Feature | Our Test (ISO‑Certified NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | Full gene sequencing with copy‑number analysis; >99.9% analytical sensitivity | Targeted variant analysis only; may miss novel or deep‑intronic mutations |
| Method | NGS with bioinformatic filtering and ACMG interpretation | Sanger sequencing of select exons |
| Turnaround | 3–4 weeks (comprehensive report with clinical annotation) | 2–3 weeks (limited scope) |
Physician Insight & Safety Protocols
"As a Consultant Medical Genetics, I emphasise that a positive SLC12A1 variant confirms the diagnosis but must always be correlated with the patient’s electrolyte profile, renal ultrasound, and clinical history. This test is a powerful tool for anticipatory care and family counselling—never discontinue prescribed medication without direct medical supervision."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory Warning
Do not discontinue prescribed medication (e.g., potassium‑sparing diuretics, electrolyte supplements) without consulting your doctor. Sudden withdrawal can provoke life‑threatening arrhythmias or severe dehydration.
Safety Exclusion Criteria
- Inability or refusal to undergo a mandatory pre‑test genetic counselling session and pedigree documentation.
- Inadequate sample: insufficient DNA quantity or quality from the provided blood/DNA card.
- Unstable clinical condition requiring emergency management (test must be deferred).
ER Red Flags (post‑test or independent of test)
- Sudden onset of severe muscle weakness, paralysis, or cardiac palpitations—suggestive of extreme hypokalaemia.
- Signs of severe dehydration, tetany, or altered consciousness; call 998 immediately.
Patient FAQ & Clinical Guidance
1. What exactly does the SLC12A1 genetic test check for?
The test comprehensively sequences the entire SLC12A1 gene to detect pathogenic variants linked to Bartter syndrome type 1, achieving a 99.9% diagnostic yield. It identifies single nucleotide changes, small deletions/insertions, and copy‑number alterations that disrupt the Na‑K‑2Cl cotransporter protein. This molecular confirmation enables precise clinical management, prediction of disease severity, and informed reproductive options. The report includes ACMG classification and clinical interpretation by our geneticists.
2. Is a doctor’s referral mandatory before ordering this test in the UAE?
Yes, a referral from a licensed UAE physician (General Practitioner, Nephrologist, or Clinical Geneticist) is required to ensure appropriate pre‑test genetic counselling. Genetic tests on minors demand parental consent and a geneticist’s assessment. You can book a tele‑counselling session through our clinic; we will coordinate with your referring doctor. The pre‑test process includes a detailed pedigree analysis and discussion of potential outcomes.
3. What sample types are accepted and how should I prepare?
We accept whole blood (collected in EDTA tubes), extracted DNA, or a dried blood spot on an FTA card—all with a mandatory genetic counselling session prior to collection. No fasting is needed. A certified phlebotomist will visit your home between 8 AM and 11 PM for the blood draw. For FTA cards, the process is equally straightforward. After collection, the sample is transported under validated cold‑chain conditions to our ISO‑certified lab. You will receive a comprehensive report in 3–4 weeks.
UAE Regulatory & Data Privacy Adherence
Data Privacy: All genetic data is processed in strict 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. Security measures include encryption, access controls, and audit trails. Clinical safety and patient consent adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability. Our laboratory holds DHA Facility License No. 1143 and is ISO 9001:2015 certified (Certificate INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | SLC12A1 Gene (Bartter Syndrome Type 1) Next-Generation Sequencing (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 weeks from sample receipt |
| Sample Type / Matrix | Whole blood (EDTA), extracted DNA, or dried blood spot (FTA card) – VIP Mobile Phlebotomy & Cold‑Chain Home Collection available daily 8 AM–11 PM |
| Methodology Used | Next‑Generation Sequencing (NGS) with full bioinformatic pipeline and ACMG variant classification |
| ICD-10-CM Code | E26.81 (Bartter syndrome) |
| LOINC Code | 21634-2 (Gene mutation analysis in Blood or Tissue by Sequencing) |
| DHA Facility License & Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians