SLC3A1 Gene Cystinuria DNA Test (NGS) in UAE – 2,800 AED | Precision Genetic Screening

Executive Summary & Core Metrics

Executive Summary

Accuracy Guarantee: 99.9% diagnostic sensitivity for pathogenic SLC3A1 variants via ISO 9001:2015 certified processing (Cert: INT/EGQ/2509DA/3139).
Premium Logistics: VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM.
Clinical Guidance: Telephonic post-test genetic counseling and result interpretation by a board-certified medical geneticist.
Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Turnaround: Results delivered within 3–4 weeks from sample receipt.

Test Overview & Methodology

The SLC3A1 Gene Cystinuria DNA Test employs high-throughput Next‑Generation Sequencing (NGS) to identify pathogenic variants in the SLC3A1 gene, which encodes the rBAT subunit of the renal cystine transporter. Mutations in this gene cause autosomal recessive cystinuria, a metabolic disorder characterized by defective renal tubular reabsorption of cystine, leading to recurrent nephrolithiasis. The test enables precise molecular diagnosis, carrier detection, and familial risk stratification for patients presenting with recurrent kidney stones, a family history of cystinuria, or unexplained metabolic stone disease. Results are interpreted within current ACMG/AMP variant classification guidelines and correlate with clinical nephrology parameters for optimized patient management.

Feature	SLC3A1 NGS Test	Urinary Cystine Analysis
Precision	99.9% diagnostic sensitivity for pathogenic variants	~85% sensitivity; influenced by diet, hydration, and timing
Methodology	Next-Generation Sequencing (NGS) with bioinformatic validation and Sanger confirmation	Colorimetric or high-performance liquid chromatography
Clinical Insight	Identifies causative mutations, carrier status, and familial recurrence risk	Meals cystine excretion; cannot distinguish genetic etiology from other causes
Turnaround	3–4 weeks	2–3 days

Physician Insight & Safety Protocols

Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403

“As a Consultant Medical Genetics, I view the SLC3A1 gene test as a cornerstone tool for identifying hereditary cystinuria and guiding targeted preventive strategies. Precise molecular diagnosis empowers families with actionable recurrence risk information and enables nephrologists to tailor medical therapy, including thiol-binding agents and hydration protocols. However, every genetic result must be interpreted within a comprehensive clinical narrative incorporating stone composition analysis, renal imaging, and a three‑generation family pedigree. No single laboratory assay substitutes for holistic patient evaluation. Let these findings illuminate, not isolate, your clinical decision‑making.”

Clinical Advisory – Medication Safety

Important Medication Warning

Do not discontinue, adjust, or initiate any prescribed therapy—including thiol‑binding agents, potassium citrate, or analgesics—without explicit instructions from your treating nephrologist or metabolic specialist. Unsupervised self‑modification of your treatment plan may precipitate acute stone episodes, renal colic, or progressive kidney injury. Always consult your physician before making changes to your medication regimen.

Exclusion Criteria & Clinical Contraindications

Test Exclusion Criteria

Individuals unable to provide voluntary, informed consent as per Federal Decree-Law No. 4 of 2016 on Medical Liability (including minors without guardian consent).
Whole blood samples collected <4 weeks following allogeneic blood transfusion (risk of donor DNA interference).
Bone marrow transplant recipients—peripheral blood DNA may reflect donor hematopoiesis, confounding germline analysis. Buccal swab or fibroblast culture is required for accurate constitutional testing.

Emergency Red Flags – Seek Immediate Medical Attention

Sudden, severe unilateral flank pain radiating to the groin with associated nausea or vomiting.
Fever, rigors, or dysuria suggestive of ascending urinary tract infection complicating obstructive uropathy.
Oliguria, anuria, or unexplained dyspnea and pedal edema indicating potential acute kidney injury.

Patient FAQ & Clinical Guidance

1. What is the SLC3A1 Gene Cystinuria DNA Test and why is it performed?

This test utilizes Next‑Generation Sequencing to detect disease‑causing mutations in the SLC3A1 gene, which is responsible for the most common form of autosomal recessive cystinuria. It is indicated for patients with recurrent radiolucent kidney stones, a confirmed family history of cystinuria, or elevated urinary cystine levels requiring a definitive genetic diagnosis. Results guide personalized medical management, surgical prophylaxis, and genetic counseling for at‑risk family members.

2. How is the sample collected and what is the expected turnaround time?

A certified phlebotomist collects a peripheral whole blood sample (3–5 mL in an EDTA tube) during a scheduled home visit or in‑clinic appointment. Alternatively, a buccal swab may be used if blood collection is contraindicated. Samples are transported via temperature‑controlled cold chain to our ISO 9001:2015 certified laboratory. Results are reported within 3–4 weeks, allowing time for comprehensive sequencing, bioinformatic analysis, and clinical variant interpretation.

3. Are my genetic results confidential and compliant with UAE data protection laws?

Yes. All genetic data is classified as sensitive personal information and is rigorously protected under 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. Results are encrypted during storage and transmission, accessible only to the ordering physician and the patient upon explicit consent. No genetic information is shared with insurers, employers, or third parties without your written authorization.

UAE Regulatory & Data Privacy Adherence

This diagnostic service operates in full compliance with the UAE legal framework for genetic testing and health data protection. All patient information is handled in accordance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), which governs the collection, processing, and storage of personal data, and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, which establishes security standards for electronic health records and telemedicine platforms. Clinical consent and medical liability protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139), and all genetic data is encrypted and processed within accredited facilities in the Dubai Healthcare City jurisdiction.

Clinical & Logistical Metadata

Test Name	SLC3A1 Gene Cystinuria DNA Test (NGS)
Price (AED)	2,800 AED
Turnaround Time	3–4 Weeks
Sample Type / Matrix	Peripheral Whole Blood (EDTA) or Buccal Swab – VIP Mobile Phlebotomy and Temperature-Controlled Cold-Chain Home Collection Available Daily from 8 AM to 11 PM
Methodology Used	Next-Generation Sequencing (NGS) with Bioinformatic Validation and Sanger Confirmation
ICD-10-CM Code	E72.01 (Cystinuria)
LOINC Code	101270-2 (DNA Sequencing of SLC3A1 gene)
DHA Facility License & Laboratory Address	License No. 1143 \| Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE \| DNA Labs UAE