Test Price
2,800 AEDโ Home Collection Available
SLC4A4 Gene Renal Tubular Acidosis, Proximal, with Ocular Abnormalities Genetic Test
Executive Summary & Core Metrics
This NGS-based genetic test performs full coding-region sequencing of the SLC4A4 gene with splice-site coverage, delivering definitive molecular confirmation for proximal renal tubular acidosis type II with ocular abnormalities. The assay achieves 99.9% diagnostic sensitivity at >100x mean read depth. Logistics include VIP mobile phlebotomy with temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM across all UAE emirates. Post-test telephonic genetic counselling is provided by a board-certified clinical geneticist. Direct insurance verification via WhatsApp at +971 54 548 8731.
- Accuracy Guarantee: 99.9% diagnostic sensitivity through ISO 9001:2015 certified processing.
- Premium Logistics: ISO-certified cold-chain home collection and VIP mobile phlebotomy.
- Clinical Guidance: Post-test telephonic consultation with a consultant medical geneticist.
- Insurance: Direct coverage verification via WhatsApp: +971 54 548 8731
Test Overview & Methodology
The SLC4A4 gene encodes the electrogenic sodium bicarbonate cotransporter 1 (NBCe1), a critical protein mediating bicarbonate reabsorption in the renal proximal tubule and maintaining corneal endothelial pump function. Pathogenic biallelic variants in SLC4A4 cause proximal renal tubular acidosis (pRTA) type II with a distinctive triad of metabolic acidosis, stunted growth, and bilateral ocular abnormalities โ most commonly band keratopathy, glaucoma, and cataracts. This NGS-based genetic test performs full coding-region sequencing with splice-site coverage of the SLC4A4 gene, delivering definitive molecular confirmation for clinical diagnosis, family cascade screening, and recurrence risk counselling.
| Feature | Our SLC4A4 NGS Test | Closest Alternative (WES Panel) |
|---|---|---|
| Precision / Coverage | Full gene โ exons + intron-exon boundaries ยฑ20 bp; >100x mean depth | Variable coverage; may miss deep intronic or regulatory variants |
| Methodology | Next Generation Sequencing (NGS) with Sanger confirmation of reported variants | Whole Exome Sequencing โ broader scope, lower per-gene depth |
| Turnaround Time | 3 to 4 Weeks | 6 to 10 Weeks typical |
Physician Insight & Safety Protocols
Clinical Note from Lina Osama Zaki Quteineh โ Consultant Medical Genetics, DHA Registration ID: 9294403:
"A positive SLC4A4 variant report provides a molecular anchor for the clinical phenotype, but it must always be correlated with arterial blood gas analysis, serum electrolytes, urine pH, and ophthalmologic examination including slit-lamp evaluation. For paediatric patients, early bicarbonate replacement is critical to prevent irreversible corneal opacification and growth faltering; however, metabolic therapy requires careful titration by a paediatric nephrologist. A negative result does not exclude atypical presentations; clinical judgment remains the cornerstone of management."
โ Medication Safety Advisory
Important Medication Warning
Do not discontinue or alter any prescribed medications โ including sodium bicarbonate, potassium citrate, or carbonic anhydrase inhibitors โ without prior consultation with your treating physician. Abrupt cessation may precipitate life-threatening metabolic decompensation, especially in paediatric or renally compromised patients. This safety advisory is issued in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
Exclusion Criteria & Emergency Red Flags
Sample Rejection & Test Limitations
- Sample Rejection: Haemolysed whole blood, insufficient DNA yield (<1 ยตg), or FTA card with visible moisture damage.
- Test Not Indicated For: Isolated distal (type I) RTA without ocular involvement; acquired causes of metabolic acidosis (e.g., carbonic anhydrase inhibitor use, heavy metal toxicity).
- Emergency Red Flags โ Seek Immediate Medical Attention: Acute-onset lethargy with Kussmaul breathing (deep, laboured respirations); serum bicarbonate below 12 mEq/L; acute ocular pain with photophobia and corneal clouding; severe dehydration with altered mental status in a paediatric patient.
Patient FAQ & Clinical Guidance
1. What does the SLC4A4 gene test diagnose, and who should consider it?
This NGS test confirms proximal renal tubular acidosis type II with ocular abnormalities by identifying disease-causing variants in the SLC4A4 gene. It is recommended for patients presenting with growth retardation, hyperchloremic metabolic acidosis, and bilateral band keratopathy or glaucoma โ especially in consanguineous UAE families where autosomal recessive inheritance is suspected.
2. How accurate is this genetic test compared to standard biochemical testing for renal tubular acidosis?
Our NGS assay achieves 99.9% diagnostic sensitivity for SLC4A4 coding-region variants at >100x mean read depth โ delivering molecular confirmation that biochemical tests alone cannot provide, as urine anion gap and fractional bicarbonate excretion only characterise the tubular defect phenotypically without identifying the underlying genetic aetiology.
3. What sample types are accepted, and how does home collection work in the UAE?
We accept whole blood (EDTA tube), extracted DNA (minimum 1 ยตg), or a single drop of blood on an FTA card. Our ISO-certified cold-chain home collection team operates daily from 8 AM to 11 PM across all seven emirates, with VIP mobile phlebotomy available for paediatric and geriatric patients. For families in remote areas, a courier-based specimen retrieval can be arranged.
4. Is genetic counselling mandatory before and after the test?
Yes. Pre-test genetic counselling includes pedigree construction and discussion of recurrence risks. Post-test counselling is mandatory for result disclosure, interpretation of variant pathogenicity, and management recommendations. Both sessions are conducted telephonically or in-person at our Dubai Healthcare City facility by a consultant medical geneticist.
UAE Regulatory & Data Privacy Adherence
Compliance Framework
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All genomic and personal data are encrypted at rest and in transit, stored exclusively on UAE-sovereign servers, and never shared with third parties without explicit data-subject authorization.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Electronic health records and genetic test results are processed in full compliance with this law, ensuring secure digital transmission and storage.
- ISO 9001:2015 Certification: Cert. No. INT/EGQ/2509DA/3139 โ Quality Management System audited annually by an accredited EU-notified body.
- Pre-test Informed Consent: Documented consent is required prior to sample processing, including acknowledgment of genetic data handling and privacy rights under UAE law.
Clinical & Logistical Metadata
| Test Name | SLC4A4 Gene Sequencing (NGS) โ Proximal Renal Tubular Acidosis with Ocular Abnormalities |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA (≥1 ยตg), or FTA Card |
| Methodology Used | Next Generation Sequencing (NGS) with Sanger Confirmation |
| ICD-10-CM Code | N25.89 |
| LOINC Code | 51963-5 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE โ DNA Labs UAE |
Support & WhatsApp: +971 54 548 8731
Pre-requisite: A genetic counselling session to draw a pedigree chart of family members affected with SLC4A4-associated Renal Tubular Acidosis, Proximal, with Ocular Abnormalities is mandatory. Clinical history documentation is required prior to sample accessioning.
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All reports reviewed by DHA-Certified physicians