Test Price
2,800 AED✅ Home Collection Available
SCO1 Gene Mutation Analysis (Hepatic Failure & Early-Onset Neurologic Disorder) – Genetic Test in UAE | AED 2800 | DHA Licensed
Executive Summary & Core Metrics
Executive Summary: A high-precision next-generation sequencing (NGS) genetic test that identifies pathogenic variants in the SCO1 gene associated with early-onset hepatic failure and progressive neurologic disorder. This analysis is performed under stringent DHA-mandated clinical standards and fully complies with UAE personal data protection regulations.
Test Overview & Methodology
The SCO1 gene NGS test is a definitive molecular diagnostic tool that identifies pathogenic variants linked to early-onset hepatic failure and progressive neurologic disorder. In the UAE, this test is processed under DHA-mandated standards to confirm or exclude mitochondrial hepatocerebral syndrome, enabling precise clinical management and family genetic counselling. The condition typically presents in infancy with hepatomegaly, cholestasis, and hypoglycaemia, followed by developmental regression, hypotonia, and movement disorders. Early molecular confirmation allows families to make informed reproductive choices and supports targeted nutritional and supportive care.
| Feature | Our Test (DHA-Certified) | Standard Commercial Panel |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) – full SCO1 gene with ≥100× coverage, ACMG 2025 interpretation | PCR-based targeted genotyping (limited mutation set) |
| Turnaround Time | 3–4 Weeks (report delivered digitally) | 4–6 Weeks |
| Clinical Support | Pre- & post-test genetic counselling, direct DHA-licensed specialist interpretation | Generic report only; support varies |
Physician Insight & Safety Protocols
“As a DHA-licensed Consultant Medical Genetics, I emphasise that a positive SCO1 mutation result confirms a rare mitochondrial hepatocerebral disorder, but it must always be interpreted in the context of full clinical history, liver biochemistry, and neuroimaging. A negative result does not exclude phenocopies or other genetic aetiologies; therefore, ongoing specialist follow-up and family counselling remain essential.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Medication & Clinical Context
⚠️ Critical Notice
Never discontinue any prescribed medication without consulting your treating physician. This genetic test is a supplementary diagnostic aid that must be used alongside full clinical assessment, not as a replacement for professional medical judgement.
Exclusion Criteria & Emergency Red Flags
Who Should Not Take This Test
- Exclusion: Testing of asymptomatic minors requires written consent from a legal guardian and mandatory pre-test genetic counselling as per Federal Decree-Law No. 4 of 2016 on Medical Liability. Carrier screening without clinical indication is not routinely performed.
- Exclusion: Patients unable to provide a venous blood sample or dried blood spot after a certified phlebotomy attempt (alternative arrangements may be discussed with the referring physician).
Emergency Red Flags
Seek immediate emergency care if the patient develops acute jaundice, easy bruising or bleeding, altered consciousness, seizures, or signs of hepatic encephalopathy. These symptoms may indicate rapid progression of liver failure and require urgent medical intervention.
Patient FAQ & Clinical Guidance
1. What is the SCO1 gene and why is it tested?
SCO1 encodes a mitochondrial copper transport protein essential for cellular respiration; mutations cause early-onset hepatic failure and progressive neurologic decline. This test sequences the entire SCO1 gene to detect single nucleotide variants, insertions, deletions, and copy-number changes that underlie a devastating autosomal recessive disorder. The condition typically presents in infancy with hepatomegaly, cholestasis, and hypoglycaemia, followed by developmental regression, hypotonia, and movement disorders. Early molecular confirmation allows families to make informed reproductive choices and supports targeted nutritional and supportive care.
2. How is the test performed and what is the turnaround time?
A blood sample (EDTA tube) or dried blood spot on an FTA card is collected at your home by a certified phlebotomist between 8 AM and 11 PM daily. The specimen is transported under strict cold-chain conditions to our ISO-accredited laboratory. DNA is extracted and subjected to NGS with bioinformatics analysis against the latest human reference genome. A comprehensive clinical report is issued within 3 to 4 weeks, reviewed by a DHA-licensed genetic counsellor, and discussed with you telephonically.
3. Is this test covered by insurance in the UAE?
Before scheduling, our team will request your insurance details via a secure WhatsApp link (+971 54 548 8731). We directly bill major UAE insurers and obtain pre-approval for SCO1 testing when supported by a specialist referral or symptoms of early-onset liver disease and neurologic impairment. Co-payments, if applicable, are clearly communicated upfront. Patients paying out-of-pocket receive a detailed invoice that can be submitted for reimbursement. For minors, genetic testing is covered only with guardian consent and documented medical necessity in line with Federal Decree-Law No. 4 of 2016 on Medical Liability.
4. What does a positive or negative result mean for my family?
A positive result confirms the presence of a pathogenic SCO1 mutation and establishes a molecular diagnosis of mitochondrial hepatocerebral syndrome, guiding treatment decisions and recurrence risk counselling for family planning. A negative result significantly reduces the likelihood of SCO1-related disease but does not exclude other genetic or acquired causes of hepatic and neurologic dysfunction. In either case, post-test genetic counselling with a DHA-licensed specialist is provided to discuss implications for the patient and at-risk relatives.
UAE Regulatory & Data Privacy Adherence
Trust & Compliance Framework
DNA Labs UAE operates under the oversight of the Dubai Health Authority (DHA Facility License Number 1143) and strictly adheres to the following UAE federal data protection and healthcare information security regulations:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – Governing the collection, processing, storage, and transfer of personal health data with explicit patient consent and data minimization principles.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – Ensuring secure handling of electronic health records, telemedicine communications, and digital diagnostic reporting.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – Defining the legal framework for clinical responsibility, informed consent protocols, and patient safety in diagnostic procedures.
All genetic data is encrypted, access-controlled, and retained only for the duration required by UAE law. Patients have the right to access, correct, and request deletion of their personal data in accordance with PDPL provisions.
Clinical & Logistical Metadata
| Test Name | SCO1 Gene Mutation Analysis (Hepatic Failure & Early-Onset Neurologic Disorder) |
| Price (AED) | AED 2,800 |
| Turnaround Time | 3–4 Weeks (digital report issued) |
| Sample Type / Matrix | Whole Blood (EDTA) or Dried Blood Spot (FTA card) |
| Methodology Used | Next-Generation Sequencing (NGS) – full gene coverage ≥100× |
| ICD-10-CM Code | E88.89 (Other specified metabolic disorders – mitochondrial hepatocerebral syndrome), G31.89 (Other specified degenerative diseases of nervous system) |
| LOINC Code | 21660-3 (Gene mutations identified [Identifier] in Blood or Tissue by Molecular genetics method) |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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