Test Price
2,800 AED✅ Home Collection Available
NBAS Gene Sequencing – Short Stature, Optic Nerve Atrophy & Pelger‑Huet Anomaly Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Clinical-Grade NGS Diagnostic Solution for SOPH Syndrome
Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 certified processing (Cert: INT/EGQ/2509DA/3139) and CAP‑accredited laboratory standards.
Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection – available daily from 8 AM to 11 PM.
Clinical Guidance: Telephonic post‑test interpretation by a DHA‑licensed Consultant Medical Geneticist for actionable result discussion.
Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next‑generation sequencing (NGS) assay targets the NBAS gene to diagnose SOPH syndrome – a rare autosomal recessive disorder characterised by short stature, optic nerve atrophy, Pelger‑Huet anomaly, and multisystem involvement including hepatic and immunologic manifestations. The test is processed in a CAP‑accredited laboratory using Illumina NovaSeq technology with full exon coverage and CNV calling, delivering a clinical‑grade report within 3–4 weeks.
| Feature | NBAS NGS Panel (Our Test) | Single Gene Sanger Sequencing |
|---|---|---|
| Precision | >99.9% analytical sensitivity for NBAS variants including CNVs | ~98% for known point mutations; CNVs routinely missed |
| Method | NGS with full exon coverage, splice‑site analysis & CNV calling | Sanger sequencing of coding exons only; no CNV detection |
| Turnaround | 3–4 weeks with optional expedited reporting | 3–6 weeks; no expedited option |
| Clinical Utility | Diagnostic confirmation, carrier testing & prenatal planning | Confirmation of known familial variants only |
Physician Insight & Safety Protocols
“The NBAS gene test is a cornerstone for diagnosing SOPH syndrome and related multisystem disorders. As a Consultant Medical Geneticist, I emphasise that this NGS platform provides the highest resolution for detecting pathogenic variants, including deep intronic and copy‑number changes. However, a negative result does not entirely exclude an NBAS-related phenotype; clinical correlation with growth velocity, ophthalmologic examination, hepatic enzyme profile, and immunological work‑up is mandatory. Families should pursue genetic counselling before and after testing to fully understand implications for recurrence risk and surveillance planning.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
⚠️ Important Advisory
Do not discontinue any prescribed growth hormone therapy, immunosuppressive regimen, or ophthalmologic medication without first consulting your managing physician. Abrupt cessation may lead to accelerated vision loss or metabolic decompensation.
Exclusion Criteria & Emergency Red Flags
- Uncontrolled coagulopathy or severe thrombocytopenia contraindicating venipuncture.
- Inability to provide informed consent from patient or legal guardian.
- Acute febrile illness or haemodynamic instability requiring immediate medical attention.
- Emergency Red Flags: Sudden vision loss, new‑onset seizures, fulminant hepatic dysfunction (elevated ALT >10× ULN with coagulopathy), or rapidly declining height velocity (≤‑3 standard deviations) – seek urgent paediatric care.
Patient FAQ & Clinical Guidance
1. What is the NBAS gene test and why is it recommended for my child?
This NGS test detects pathogenic variants in the NBAS gene that cause SOPH syndrome (short stature, optic nerve atrophy, Pelger‑Huet anomaly) and related multisystem disorders. Early molecular diagnosis enables tailored growth monitoring, ophthalmologic follow‑up, liver function surveillance, and recurrence risk counselling for families.
2. How is the sample collected and how long do results take?
Sample collection options include a standard peripheral blood draw, buccal swab, or dried blood spot on an FTA card. Our VIP mobile phlebotomy team follows temperature‑controlled cold‑chain protocols. The full NGS clinical report is delivered within 3–4 weeks via secure digital portal and printed copy.
3. Will my UAE health insurance cover the NBAS genetic test?
Most UAE health insurers cover this genetic test when deemed medically necessary with a physician referral. Our team provides real‑time insurance verification via WhatsApp +971 54 548 8731. The self‑pay price is 2,800 AED inclusive of sample collection, laboratory processing, and genetic counselling.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
- Data Protection: All genetic data is processed and stored in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Health Information Governance: Laboratory information systems adhere to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring secure electronic health record handling.
- Clinical Safety & Consent: Patient consent protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability, guaranteeing informed decision‑making before sample collection and genetic analysis.
- Accreditation: DNA Labs UAE is DHA‑licensed (Facility No. 1143) and operates under ISO 9001:2015 quality management standards.
Clinical & Logistical Metadata
| Test Name | NBAS Gene Sequencing (SOPH Syndrome Panel) – NGS |
| Price (AED) | 2,800 AED (Self‑pay; insurance direct billing available) |
| Turnaround Time | 3–4 weeks from sample receipt; expedited options on request |
| Sample Type / Matrix | Peripheral whole blood (EDTA), buccal swab, or FTA card – VIP Mobile Phlebotomy & Cold‑Chain Home Collection available daily 8 AM – 11 PM |
| Methodology Used | Next‑Generation Sequencing (Illumina NovaSeq) with full exon coverage, splice‑site analysis & CNV calling |
| ICD-10-CM Code | Q87.1 (Congenital malformation syndromes predominantly associated with short stature) |
| LOINC Code | 81247-9 (Master HL7 genetic variant reporting panel) |
| DHA Facility License & Laboratory Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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