Test Price
2,800 AED✅ Home Collection Available
CYP7B1 Gene Bile Acid Synthesis Defect Type 3 Congenital Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Clinical Intelligence Brief
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Post-Test Support: Telephonic Interpretation Session with Consultant Medical Genetics specialist.
- Insurance & Billing: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This advanced next‑generation sequencing test examines the entire coding region of the CYP7B1 gene to diagnose congenital bile acid synthesis defect type 3, a rare autosomal recessive disorder that can cause progressive liver disease and spastic paraplegia. The assay employs targeted capture enrichment on an Illumina platform with confirmation of all pathogenic findings by Sanger sequencing, providing comprehensive detection of single nucleotide variants, small insertions/deletions, and copy number alterations across all exonic and flanking intronic regions.
| Feature | Our Test (CYP7B1 NGS) | Closest Alternative (Biochemical & Sanger) |
|---|---|---|
| Precision | >99.9% analytical sensitivity for SNVs, indels, CNVs | Limited to known common mutations; misses deep intronic variants |
| Methodology | NGS on Illumina platform with Sanger confirmation of all pathogenic variants | Urinary bile acid profiling or single‑exon Sanger sequencing |
| Turnaround Time | 3–4 Weeks | 5–8 Weeks if sequencing multiple exons |
| Sample Requirement | Whole Blood (2–3 mL EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) | Fasting urine collection; fresh DNA sample |
| Price | 2,800 AED | Variable, often >3,500 AED |
Physician Insight & Safety Protocols
“Interpretation of CYP7B1 gene variants requires correlation with hepatic function markers and neurological examination findings. An abnormal molecular result does not independently predict clinical severity; comprehensive metabolic profiling and family pedigree analysis are essential. Genetic counseling should always accompany disclosure of results to guide informed medical management and reproductive planning.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
⚠️ Medication Advisory
Do not discontinue or alter any prescribed medication without consulting your treating physician. Genetic test results must be integrated into a holistic clinical management plan overseen by your healthcare provider.
Critical Safety & Exclusion Criteria
Test Exclusion Criteria
- Acute hepatic decompensation with encephalopathy
- Unstable neonatal intensive care patients
- Recent blood transfusion (within 2 weeks) that may interfere with DNA extraction
Emergency Red Flags — Seek Immediate Care
- Rapidly worsening jaundice or signs of liver failure
- Unexplained seizures or severe neurological deterioration
- Persistent vomiting, lethargy, or hypoglycemia
Patient FAQ & Clinical Guidance
1. What is the accuracy of CYP7B1 NGS testing for congenital bile acid synthesis defect type 3?
Our NGS test achieves 99.9% diagnostic sensitivity for all pathogenic variants in the CYP7B1 gene. The methodology follows current international standards and includes confirmation of every clinically relevant alteration by a secondary orthogonal Sanger technique, ensuring near‑certain detection of point mutations, small insertions/deletions, and copy number changes across all coding regions.
2. What sample types are accepted and how is home collection arranged?
We accept whole blood in EDTA, extracted DNA, or a dried blood spot on an FTA card for maximum flexibility. Our VIP mobile phlebotomy service operates daily from 8 AM to 11 PM; a trained phlebotomist arrives at your location, verifies your identity, and transports the sample in a temperature‑monitored cold‑chain container directly to our ISO‑certified laboratory for processing.
3. How will I receive results and what support is provided after testing?
Results are delivered within 3 to 4 weeks via a secure, encrypted report with detailed clinical interpretation. A dedicated consultant in medical genetics is available for a telephonic post‑test guidance session to explain the findings in the context of your family history and recommend next steps, including referral to pediatric hepatology or neurology specialists as indicated.
4. Is pre‑test genetic counseling required before undergoing this test?
Yes, pre‑test genetic counseling is strongly recommended and is included in the service. A board‑certified genetic counselor will discuss the implications of possible results, the inheritance pattern of congenital bile acid synthesis defect type 3, and the risks to family members. Informed consent is obtained prior to specimen collection, in accordance with Federal Decree‑Law No. 4 of 2016 on Medical Liability.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
All genetic testing services at DNA Labs UAE are conducted under the regulatory oversight of the Dubai Health Authority (DHA Facility License No. 1143). Patient data is handled 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. Clinical procedures and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Laboratory operations are ISO 9001:2015 certified, ensuring the highest standards of quality management and data security.
Clinical & Logistical Metadata
| Test Name | CYP7B1 Gene Sequencing – Congenital Bile Acid Synthesis Defect Type 3 |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (2–3 mL EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) |
| Methodology Used | Next‑Generation Sequencing (Illumina platform) with Sanger confirmation of all pathogenic variants |
| ICD-10-CM Code | E78.70 |
| LOINC Code | 92791-8 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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