Test Price
2,800 AED✅ Home Collection Available
SLC34A3 Gene Hypophosphatemic Rickets with Hypercalciuria Genetic Test in UAE | 2,800 AED | DHA-Licensed Molecular Diagnostics
Executive Summary & Core Metrics
The SLC34A3 single-gene sequencing test is a definitive molecular diagnostic assay for hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a rare autosomal recessive metabolic bone disorder. This NGS-based analysis interrogates the full coding sequence and splice-site junctions of the sodium-dependent phosphate transporter 2c (NaPi-IIc) gene, enabling precise variant classification and guiding targeted phosphate supplementation therapy while avoiding calcitriol-induced nephrocalcinosis. The assay is performed at a DHA-licensed facility (License No. 1143) under ISO 9001:2015 quality management standards.
Test Overview & Methodology
The SLC34A3 gene encodes the sodium-dependent phosphate transporter 2c (NaPi-IIc), a critical protein responsible for renal phosphate reabsorption in the proximal tubule. Pathogenic variants in SLC34A3 disrupt phosphate homeostasis, leading to low serum phosphate, elevated 1,25-dihydroxyvitamin D levels, hypercalciuria, and clinical manifestations of rickets in children or osteomalacia in adults. This Next-Generation Sequencing (NGS) assay provides comprehensive coverage of all coding exons and flanking intronic regions at a mean depth exceeding 100×, with a validated bioinformatics pipeline for detection of single-nucleotide variants, small insertions and deletions, and splice-site alterations. Turnaround time is 3 to 4 weeks, followed by a telephonic consultation with the clinical genetics team.
| Feature | DNA Labs UAE — ISO-Certified NGS | Closest Alternative — Standard Panel |
|---|---|---|
| Precision | 99.9% Diagnostic Sensitivity; full coding & splice-site coverage via NGS at >100× depth | Variable sensitivity; may miss deep intronic or copy-number variants |
| Methodology | Next-Generation Sequencing (NGS) with ISO 9001:2015 validated bioinformatics pipeline | Sanger sequencing or limited targeted panel; lacks comprehensive coverage |
| Turnaround Time | 3 to 4 Weeks with telephonic post-test clinical guidance | 4 to 8 Weeks; results may lack interpretive clinical support |
| Sample Flexibility | Whole Blood (EDTA), Extracted DNA (>500 ng), or One-Drop Blood on FTA Card | Often limited to venipuncture whole blood only |
| Regulatory Compliance | DHA-Licensed Facility (1143); UAE PDPL & Federal Law No. 2 of 2019 Compliant | Variable; may lack UAE-specific regulatory alignment |
Physician Insight & Safety Protocols
A definitive molecular diagnosis of SLC34A3-associated HHRH is transformative for clinical management, as it distinguishes this condition from X-linked hypophosphatemia (XLH) and tumour-induced osteomalacia. Biallelic pathogenic variants in SLC34A3 confirm the diagnosis and direct clinicians toward phosphate-only replacement without active vitamin D analogues, dramatically reducing the risk of iatrogenic nephrocalcinosis. I strongly recommend that all patients correlate these genetic findings with their complete biochemical profile — including fasting serum phosphate, renal phosphate threshold, urinary calcium-to-creatinine ratio, and 1,25-dihydroxyvitamin D levels — under the supervision of a metabolic bone specialist. Genetic clarity without clinical context remains incomplete; the two together define the standard of care.
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Advisory
⚠ Do not discontinue any prescribed medication, including phosphate supplements, vitamin D analogues, or diuretics, without consulting your treating physician. Abrupt cessation may precipitate severe electrolyte disturbances, pathological fractures, or acute renal complications.
Exclusion Criteria & Emergency Red Flags
Contraindications — Do Not Proceed If:
- Patient has received a whole blood transfusion within the preceding 14 days (donor DNA interference risk).
- Extracted DNA sample is degraded, insufficient in quantity (< 500 ng), or contaminated.
- FTA card sample is improperly dried, sealed, or lacks unique patient identifiers.
- No completed genetic counselling session or signed informed consent form (mandatory per Federal Decree-Law No. 4 of 2016 on Medical Liability).
🚨 Emergency Red Flags — Seek Immediate Medical Attention:
- Acute-onset severe bone pain, gait disturbance, or atraumatic fracture suggestive of severe osteomalacia.
- Flank pain with hematuria or anuria — may indicate obstructive nephrolithiasis from hypercalciuria.
- Muscle weakness, tetany, seizures, or cardiac palpitations — possible severe hypophosphatemia or electrolyte crisis.
- Altered mental status or confusion in a known HHRH patient — urgent metabolic evaluation required.
Patient FAQ & Clinical Guidance
1. What is the SLC34A3 gene test and why is it prescribed?
The SLC34A3 Genetic Test is a definitive molecular diagnostic tool that sequences the entire coding region of the sodium-dependent phosphate transporter gene to identify disease-causing mutations in patients with suspected hereditary hypophosphatemic rickets with hypercalciuria (HHRH). It is prescribed when a patient presents with biochemical findings of hypophosphatemia, elevated 1,25-dihydroxyvitamin D, hypercalciuria, and clinical signs of rickets or osteomalacia. This assay is essential for distinguishing HHRH from other phosphate-wasting disorders such as X-linked hypophosphatemia or tumour-induced osteomalacia, thereby guiding appropriate therapy.
2. How is the sample collected and what transport options are available?
Sample collection offers three flexible, minimally invasive options: a standard venipuncture for whole blood (3–5 mL in an EDTA tube), submission of previously extracted purified DNA (minimum 500 ng), or a single drop of blood spotted onto an FTA card which stabilizes genetic material at room temperature for convenient transport. Our VIP mobile phlebotomy team provides hospital-grade home collection services across all seven Emirates from 8 AM to 11 PM daily, utilizing ISO-certified temperature-controlled cold-chain logistics to ensure absolute sample integrity from collection through laboratory receipt. Same-day courier retrieval is available for urgent cases.
3. What do the results mean and how are they interpreted?
A positive result confirms the presence of biallelic pathogenic or likely pathogenic variants in SLC34A3, establishing a definitive molecular diagnosis of HHRH and directing clinicians toward phosphate-only supplementation without active vitamin D, thereby preventing iatrogenic nephrocalcinosis. A negative result or the identification of a variant of uncertain significance (VUS) must be interpreted within the full biochemical and clinical context. We provide a complimentary telephonic post-test counselling session with our Consultant Medical Geneticist to explain every finding in plain language, discuss implications for family members, and guide the next steps in your care pathway.
4. Who should consider this genetic test?
This test is indicated for children or adults presenting with unexplained hypophosphatemia, hypercalciuria, elevated 1,25-dihydroxyvitamin D levels, and clinical features of rickets or osteomalacia. It is also recommended for first-degree relatives of an individual with a confirmed SLC34A3 pathogenic variant, as early diagnosis enables proactive management before irreversible skeletal deformity develops. Prenatal testing is available following genetic counselling and appropriate consent procedures in accordance with UAE regulations.
5. How long does the test take and when will I receive my results?
The laboratory processing time is 3 to 4 weeks from the date of sample receipt at our Dubai Healthcare City facility. This duration accounts for DNA extraction, library preparation, NGS sequencing, bioinformatic analysis, variant classification, and clinical interpretation by our genetics team. Upon completion, you will receive a comprehensive molecular report along with a scheduled telephonic consultation to discuss the findings and their clinical implications.
UAE Regulatory & Data Privacy Adherence
Clinical & Logistical Metadata
| Test Name | SLC34A3 Gene Sequencing — Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA (>500 ng), or FTA Card Blood Spot |
| Methodology Used | Next-Generation Sequencing (NGS) — Full coding region & splice-site analysis at >100× depth |
| ICD-10-CM Code | E83.31 (Familial Hypophosphatemia), N25.89 (Hypercalciuria), Z13.228 (Screening) |
| LOINC Code | 82939-0 — Molecular Genetics Finding; Gene 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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