Test Price
2,800 AED✅ Home Collection Available
PKD1L1 Gene Heterotaxy, Visceral Type 8, Autosomal Recessive Genetic Test in UAE
Executive Summary & Core Metrics
Clinical Excellence Guarantee
- Diagnostic Accuracy 99.9% via NGS with Sanger confirmation, performed in an ISO 9001:2015 Certified Lab (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: Paid hospital-grade cold-chain home collection (8 AM–11 PM) by DHA-licensed phlebotomists; VIP Mobile Phlebotomy Service.
- Clinical Guidance: Complimentary telephonic post-test clinical guidance with a genetic counselor after report release.
- Insurance: Direct billing verification via WhatsApp at +971 54 548 8731. We coordinate with your provider.
Test Overview & Methodology
The PKD1L1 gene encodes polycystin-1-like protein 1; biallelic loss-of-function variants cause autosomal recessive visceral heterotaxy type 8 (HTX8), a disorder of left-right asymmetry leading to complex congenital heart defects, situs inversus, or situs ambiguus. This next-generation sequencing (NGS) test analyzes the entire coding region and splice sites to detect pathogenic mutations, enabling accurate diagnosis, recurrence risk counseling, and prenatal/preimplantation genetic testing.
| Feature | Our PKD1L1 NGS Test | Single-Gene Sanger Sequencing |
|---|---|---|
| Methodology | NGS (Illumina) with CNV detection + confirmatory Sanger | Sanger sequencing of coding exons only |
| Coverage | 100% of coding region, splice sites, and large rearrangements | ~95% of point mutations; misses deletions/duplications |
| Turnaround Time | 3 – 4 weeks | 6 – 8 weeks |
| Clinical Sensitivity | 99.9% | 85 – 90% |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics with extensive experience in pediatric genetic disorders, I recognize the emotional burden that accompanies a diagnosis of heterotaxy. This test must be interpreted alongside comprehensive imaging and genetic counseling to fully characterize the phenotype. Genetic results provide direction, but they never replace the compassionate care we owe every family.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory: Medication and Clinical Safety
⚠️ Medication Safety Notice
Do not discontinue any prescribed medication, including heart failure drugs such as diuretics or beta-blockers, without consulting your managing physician. Genetic findings may clarify the cause but do not alter immediate pharmacotherapy. All clinical procedures comply with Federal Decree-Law No. 4 of 2016 on Medical Liability.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria:
- Individuals without a confirmed family history or suspicious prenatal/neonatal imaging findings.
- Minors (<18 years) without legal guardian consent and a pre-test genetic counseling session.
- Acute decompensated heart failure or hemodynamic instability – prioritize stabilization before elective genetic testing.
Emergency Red Flags – Seek Immediate ER:
- Central cyanosis, severe tachypnea, or oxygen saturation <90%.
- Suspected duct-dependent lesion with shock, acidosis, or collapse.
- New-onset seizures or altered mental status in a child with known complex congenital heart disease.
Patient FAQ & Clinical Guidance
1. What does a positive PKD1L1 test mean for my child’s health?
A positive result indicates the presence of two pathogenic mutations, confirming autosomal recessive visceral heterotaxy type 8 and predicting a high likelihood of complex congenital heart defects such as atrioventricular septal defect, transposition of great arteries, or dextrocardia, requiring immediate pediatric cardiology evaluation.
2. Can this test be performed during pregnancy?
Yes, prenatal diagnosis is possible via amniocentesis or chorionic villus sampling after 15 weeks; however, it requires documented parental mutations and comprehensive genetic counseling to discuss recurrence risk, which is 25% for each pregnancy when both parents are carriers.
3. How do I prepare for the blood collection at home?
No fasting is needed; a DHA-licensed phlebotomist will collect 2–3 mL of whole blood in an EDTA tube using cold-chain transport; ensure the patient is well-hydrated and calm, and have the consent form and Emirates ID ready for verification.
4. What is the turnaround time for results?
Routine turnaround is 3 to 4 weeks from sample receipt. An expedited option may be available upon request; contact our team for details.
UAE Regulatory & Data Privacy Adherence
Data Privacy and Compliance Framework
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All genetic data is processed with explicit consent, stored securely, and used solely for diagnostic purposes.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Electronic health records and telemedicine services adhere to strict security standards.
- Federal Decree-Law No. 4 of 2016 on Medical Liability: All clinical procedures, including sample collection and genetic counseling, follow this law for patient safety and consent.
- ISO 9001:2015 Certified Lab (Cert: INT/EGQ/2509DA/3139) – consistent quality management.
- DHA Facility License No. 1143 – fully licensed for genetic testing in Dubai Healthcare City.
For any inquiries, please WhatsApp +971 54 548 8731.
Clinical & Logistical Metadata
| Test Name | PKD1L1 Full Gene Analysis (NGS) – Visceral Heterotaxy Type 8 |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 – 4 weeks (routine) |
| Sample Type / Matrix | Whole blood (EDTA) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM – 11 PM |
| Methodology Used | Next-Generation Sequencing (Illumina) with CNV detection plus confirmatory Sanger sequencing |
| ICD-10-CM Code | Q89.3 (Situs inversus), Q24.8 (Other congenital malformations of heart), Z14.8 (Genetic susceptibility) |
| LOINC Code | 93338-0 (PKD1L1 gene full mutation analysis in Blood or Tissue) |
| DHA Facility License & Laboratory Address | DHA License: 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE (DNA Labs UAE) |
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