Test Price
2,800 AED✅ Home Collection Available
FAM58A Gene Genetic Test (Toe Syndactyly, Telecanthus, Anogenital & Renal Malformations) in UAE | 2,800 AED
Executive Summary & Core Metrics
Test Overview & Methodology
This advanced next-generation sequencing (NGS) test analyzes the entire coding region and flanking splice sites of the FAM58A (CCNQ) gene to detect pathogenic variants responsible for STAR syndrome — a rare congenital disorder characterized by toe syndactyly, telecanthus, anogenital malformations, and renal anomalies. Early molecular diagnosis enables targeted surveillance, surgical planning, and informed family counseling.
| Feature | Our Test (NGS Full Gene) | Closest Alternative (Sanger Single Exon) |
|---|---|---|
| Precision | >99.9% sensitivity for all coding regions and conserved splice sites | Limited to one exon; deep intronic or large structural variants missed |
| Methodology | Next‑Generation Sequencing (Illumina, paired‑end 150 bp, >50× depth) | Capillary Sanger sequencing |
| Turnaround Time | 21–28 days from sample receipt | 7–14 days |
| Report Content | ACMG‑compliant pathogenicity classification, CNV analysis, and clinical interpretation | Variant list only; no CNV detection |
Physician Insight & Safety Protocols
“As a DHA-licensed Consultant Medical Geneticist, I emphasize that a negative result on this test does not exclude all syndromic presentations. A complete clinical evaluation — including renal ultrasound, echocardiography, and three-generation pedigree analysis — must accompany molecular testing. The decision to proceed should be made after thorough counseling on inheritance patterns, penetrance, and reproductive options.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory & Safety Guidance
Do not discontinue or alter any prescribed medication, supplement, or therapy without consulting your treating physician. This test provides genetic information to guide clinical management; it does not replace immediate medical care for acute symptoms.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Severe coagulopathy or bleeding diathesis preventing safe finger‑prick collection. Alternative sample types (extracted DNA or saliva) may be accepted after physician clearance.
- Exclusion: Active skin infection or rash at the planned collection site.
- Exclusion: Inability to provide informed consent. Minors require legal guardian consent in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Emergency Red Flags: Sudden anuria (no urine output for >12 hours), severe flank pain, acute abdominal distension, or rectal bleeding require immediate emergency evaluation — these may indicate complications of underlying renal or anogenital malformations.
Patient FAQ & Clinical Guidance
1. What does the FAM58A gene test diagnose?
This test detects pathogenic variants in the FAM58A (CCNQ) gene that cause STAR syndrome — a rare congenital disorder featuring toe syndactyly, telecanthus (widely spaced eyes), anogenital malformations, and structural renal anomalies. The comprehensive NGS analysis covers all coding exons, flanking intronic regions, and enables copy number variant (CNV) detection. A positive result provides a definitive molecular diagnosis, guiding medical surveillance, surgical timing, and family planning discussions.
2. How is the sample collected for this genetic test?
Sample collection is performed via a simple finger‑prick blood spot onto an FTA card or via standard venipuncture. A DHA‑licensed phlebotomist conducts the collection at your home using temperature‑controlled cold‑chain logistics. Alternatively, you may provide a previously extracted DNA sample or a whole blood tube. Pre-test genetic counseling is mandatory and will be scheduled before sample collection to document a detailed family pedigree and confirm informed consent.
3. How long does it take to receive FAM58A gene results in the UAE?
Results are available within 21 to 28 days from the date of sample receipt at our ISO‑certified laboratory in Dubai Healthcare City. The turnaround time includes DNA extraction, library preparation, NGS sequencing, bioinformatics analysis, variant classification per ACMG guidelines, and clinical report sign‑off by a Consultant Medical Geneticist. You will receive a secure WhatsApp notification when your report is ready for download.
UAE Regulatory & Data Privacy Adherence
Your genetic data is processed in full 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. All identifiable health information is encrypted, access‑controlled, and stored within secure UAE‑based servers. Results are released only to the ordering physician or the patient (with valid Emirates ID verification). No genetic data is shared with third parties without explicit, written consent as defined under applicable UAE health data protection frameworks.
Clinical & Logistical Metadata
| Test Name | FAM58A (CCNQ) Gene Sequencing & CNV Analysis — STAR Syndrome Panel |
| Price (AED) | 2,800 AED |
| Turnaround Time | 21–28 days from sample receipt |
| Sample Type / Matrix | Whole Blood, Dried Blood Spot (FTA Card), or Extracted DNA |
| Methodology Used | Next‑Generation Sequencing (Illumina, paired‑end 150 bp, >50× depth) with CNV bioinformatics pipeline |
| ICD-10-CM Code | Q87.8 |
| LOINC Code | 94303-5 |
| 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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All reports reviewed by DHA-Certified physicians