Test Price
2,800 AEDโ Home Collection Available
SLC39A4 Gene Acrodermatitis Enteropathica Genetic Test in UAE | 2,800 AED | DHA Licensed | DNA Labs UAE
Executive Summary & Core Metrics
This definitive, 99.9% diagnostic sensitivity NGS test sequences the entire SLC39A4 gene to confirm or rule out Acrodermatitis Enteropathica, a rare but severe zinc malabsorption disorder. DNA Labs UAE provides ISO-certified cold-chain home collection across the UAE, followed by mandatory telephonic clinical guidance from a consultant medical geneticist. The test targets the SLC39A4 zinc transporter gene on chromosome 8q24.3, where biallelic pathogenic mutations impair dietary zinc uptake in enterocytes and keratinocytes, leading to the classic triad of periorificial dermatitis, diarrhea, and failure to thrive. Early molecular confirmation via this assay enables initiation of lifelong high-dose zinc supplementation before irreversible neurological or immunological damage occurs.
Test Overview & Methodology
This comprehensive genetic test analyzes the coding exons and flanking intronic regions of the SLC39A4 gene using next-generation sequencing (NGS) on an Illumina platform. The assay achieves >99.9% analytical sensitivity and specificity for single-nucleotide variants and small insertion-deletion mutations. Bioinformatic analysis employs a validated in-house pipeline with alignment to GRCh38, variant calling via GATK, and annotation against ClinVar, HGMD, and gnomAD. All pathogenic and likely pathogenic variants are confirmed by Sanger sequencing prior to clinical reporting. The test definitively discriminates hereditary Acrodermatitis Enteropathica from acquired zinc deficiency secondary to malnutrition, malabsorption, or prematurity, guiding appropriate lifelong therapy.
| Feature | DNA Labs UAE โ Premium | Closest Alternative |
|---|---|---|
| Precision | Full Gene NGS (99.9% Sensitivity) | Single Exon Hotspot Panel |
| Method | NGS + Sanger Confirmation | Standard Sequencing Only |
| Bioinformatics | GRCh38, GATK, ClinVar/HGMD Annotated | Limited Annotation |
| Logistics | Home Collection + Express TAT Option | In-Lab Visit Required |
Physician Insight & Safety Protocols
"From a clinical genetics perspective, a positive SLC39A4 result provides the molecular key to unlock lifelong zinc homeostasis management. The distinction between hereditary Acrodermatitis Enteropathica and transient acquired zinc deficiency hinges on careful segregation of biallelic pathogenic variantsโthis test delivers that clarity with high confidence. I counsel families that a confirmed genetic diagnosis not only justifies high-dose elemental zinc therapy (typically 3โ5 mg/kg/day) but also enables presymptomatic testing of at-risk siblings, preventing the devastating neurodevelopmental sequelae of delayed treatment. The correlation of genotype with phenotype remains essential, as some missense variants may retain partial zinc transport activity and modulate disease severity."
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Therapeutic Advisory โ Zinc Supplementation Continuity
Patients currently receiving high-dose zinc sulfate or zinc acetate therapy must continue their prescribed regimen without interruption before, during, and after the genetic testing process. Abrupt cessation of zinc supplementation in a confirmed or suspected Acrodermatitis Enteropathica patient can precipitate acute dermatological flares, electrolyte disturbances, and metabolic decompensation. The genetic test result informs long-term management strategy and does not replace ongoing clinical monitoring by a metabolic physician or gastroenterologist. Always consult your supervising specialist before making any changes to zinc dosage or frequency.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Active severe generalized skin infection precluding venipuncture at a clean site; inability of the patient or legal guardian to provide informed consent for genetic testing after pretest counseling.
- Emergency Red Flags: If the patient develops signs of septic shock, severe hypovolemia from intractable diarrhea, or rapid neurological deterioration (seizures, lethargy) prior to result availability, proceed immediately to the nearest emergency department for acute stabilization. This test is not a substitute for urgent medical intervention.
- Sample Stability: Whole blood in EDTA tubes must be received by the laboratory within 24 hours of collection and maintained at 2โ8ยฐC. Dried blood spot (FTA) cards must be stored at ambient temperature away from moisture and extreme heat.
Patient FAQ & Clinical Guidance
1. What does the SLC39A4 gene test reveal about my child's chronic skin rash and poor growth?
This genetic test definitively identifies mutations in the zinc transporter gene SLC39A4, providing a conclusive molecular diagnosis for Acrodermatitis Enteropathica. A positive result enables the supervising physician to prescribe lifelong, high-dose zinc supplementation tailored to the specific genetic defect, preventing disease progression and promoting catch-up growth. The test distinguishes hereditary zinc deficiency from acquired forms caused by dietary insufficiency or malabsorptive disorders, avoiding unnecessary treatments and ensuring precise therapy.
2. How is the SLC39A4 gene test performed using a dried blood spot card, and is it as accurate as a standard blood draw?
Next-generation sequencing from a single drop of blood dried on an FTA card yields identical diagnostic accuracy to whole blood extraction. Robust whole-genome amplification techniques ensure DNA integrity for 99.9% sensitivity analysis, and all clinically significant variants are confirmed by Sanger sequencing from the same sample. The FTA card method eliminates the need for venipuncture in infants or patients with difficult venous access, while maintaining the same analytical validity and clinical utility as a traditional EDTA tube collection.
3. Should all family members undergo genetic screening for the same gene after one individual is diagnosed?
Cascade genetic screening of asymptomatic siblings is clinically essential for autosomal recessive disorders like Acrodermatitis Enteropathica. Identifying presymptomatic homozygotes or compound heterozygotes allows initiation of prophylactic zinc monitoring or therapy, preventing irreversible neurological damage, growth failure, and severe dermatitis. Carrier testing for parents and relatives also informs reproductive risk assessment and family planning. The consultant medical geneticist will coordinate a tailored family screening plan following the proband's diagnosis.
4. What is the turnaround time for the SLC39A4 genetic test, and how will I receive the results?
The standard turnaround time is 21 to 28 days (3โ4 weeks) from sample receipt at the DNA Labs UAE facility in Dubai Healthcare City. This timeline encompasses DNA extraction, NGS library preparation, sequencing, bioinformatic analysis, variant confirmation by Sanger sequencing, and clinical interpretation by the consultant medical geneticist. Results are delivered via a secure digital portal and discussed in a mandatory telephonic post-test consultation to explain findings, therapeutic implications, and family screening recommendations.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
DNA Labs UAE operates under DHA Facility License Number 1143 and strictly adheres to Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) governing the processing, storage, and transfer of personal health data. All genetic test results are encrypted at rest and in transit, with access restricted to authorized clinical personnel. The laboratory also complies with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring secure digital handling of electronic medical records and telemedicine consultations. Clinical testing safety and patient consent protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability, guaranteeing that every genetic test is performed only after informed consent and pretest genetic counseling. Our facility is ISO 9001:2015 certified, and all laboratory processes are subject to regular internal and external audits to maintain the highest standards of quality and confidentiality.
Clinical & Logistical Metadata
| Test Name | SLC39A4 Gene Acrodermatitis Enteropathica Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 21โ28 Days (3โ4 Weeks) |
| Sample Type / Matrix | Whole Blood (EDTA) or Dried Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (NGS) โ Full Gene Analysis with Sanger Confirmation |
| ICD-10-CM Code | E83.2 |
| LOINC Code | 48018-6 |
| DHA Facility License & Laboratory Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
ุฏุนู ุซูุงุฆู ุงููุบุฉ ู ุชุงุญ
ุงูุชุญูู ู ู ุงูุชุบุทูุฉ ุงูุชุฃู ูููุฉ
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
ุชููู ุนู ุงูุชุฎู ูู. ุฃุฑุณู ุตูุฑุฉ ู ู ุจุทุงูุฉ ุงูุชุฃู ูู ููุตูุฉ ุงูุทุจูุจ ุฅูู ูุฑูู ุงูุชุญูู ุงูู ุนุชู ุฏ ู ู ููุฆุฉ ุงูุตุญุฉ ุจุฏุจู ุนุจุฑ ุงููุงุชุณุงุจ. ุงุญุตู ุนูู ุชุญุฏูุซ ุงูุญุงูุฉ ูู ุฏูุงุฆู.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians