Test Price
2,800 AED✅ Home Collection Available
SEC23B Gene CDAN2 (Congenital Dyserythropoietic Anemia Type II) Genetic Test in UAE
Executive Summary & Core Metrics
A definitive molecular diagnostic test utilizing Next Generation Sequencing (NGS) to detect pathogenic variants in the SEC23B gene responsible for Congenital Dyserythropoietic Anemia Type II (CDA II). This DHA-licensed, ISO 9001:2015 accredited assay provides 99.9% diagnostic sensitivity for confirmed clinical decision-making.
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- ✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM, all Emirates).
- ✓ Clinical Guidance: Telephonic Post-Test Clinical Guidance for result interpretation with DHA-Licensed specialists.
- ✓ Insurance: Direct Billing Verification via WhatsApp: +971 54 548 8731.
LICENSED
Facility: 1143
ISO 9001:2015
Test Overview & Methodology
The SEC23B Gene CDAN2 Genetic Test is a comprehensive full-gene sequencing analysis that identifies pathogenic mutations causing Congenital Dyserythropoietic Anemia Type II, a rare autosomal recessive hematological disorder marked by ineffective erythropoiesis, jaundice, splenomegaly, and progressive iron overload. The test utilizes Next Generation Sequencing (NGS) at a minimum of 1000x depth of coverage to analyze the entire coding and flanking intronic regions of the SEC23B gene.
This test is essential for patients presenting with unexplained chronic anemia, abnormal red blood cell morphology on peripheral smear, and a suspected hereditary hemolytic condition. It is also indicated for at-risk family members seeking carrier screening and for couples planning pregnancy who wish to assess reproductive risk.
| Feature | Our SEC23B NGS Test (DHA-Accredited) | Closest Alternative (Targeted Panel / Sanger) |
|---|---|---|
| Diagnostic Sensitivity | 99.9% – Full gene coverage including deep intronic regions | ~85% – Limited to pre-selected known mutations only |
| Methodology | NGS (Next Generation Sequencing) at 1000x depth of coverage | Sanger Sequencing or Targeted Genotyping (limited loci) |
| Turnaround Time | 3 to 4 Weeks – Comprehensive bioinformatics analysis included | 2 to 3 Weeks – Limited bioinformatics pipeline |
| Clinical Utility | Complete – Novel variant discovery enabled | Partial – Misses rare or novel pathogenic variants |
| ISO Accreditation | ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) | Variable – Often unaccredited |
Physician Insight & Safety Protocols
"As a Consultant Medical Geneticist, I view the SEC23B gene test as a critical tool in the diagnostic workup of CDA Type II. Its strength lies in its comprehensive genomic coverage, but its value is fully realized when interpreted alongside the patient's hematological phenotype, bone marrow findings, and iron metabolism studies. Dedicated pre- and post-test genetic counselling is non-negotiable for ethical and informed clinical decision-making regarding the patient and their family."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA ID: 9294403)
Medication & Clinical Advisory
⚠️ CLINICAL NOTICE: Do not discontinue any prescribed medication, including iron chelators, folic acid supplements, or blood transfusion schedules, without consulting your treating physician. Genetic test results are diagnostic adjuncts — not replacements for ongoing clinical management.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria (Do Not Proceed Without Physician Clearance):
- Active acute hemolytic crisis requiring emergency transfusion
- Recent blood transfusion within 14 days (may interfere with DNA extraction from whole blood; use buccal swab or FTA card alternative)
- Known bone marrow failure with pancytopenia — requires concurrent hematology consultation
- Minors under 18 years without parental/guardian consent (per UAE Federal Law No. 2 of 2019 and Federal Decree-Law No. 4 of 2016)
ER Red Flags — Seek Immediate Medical Attention If:
- Sudden severe pallor, syncope, or hemodynamic instability
- Acute abdominal pain with distension (suggestive of splenic sequestration)
- High-grade fever (>38.5°C) with rigors in a known CDA patient
- Dark urine with acute fatigue — possible hemolytic crisis
Patient FAQ & Clinical Guidance
1. What is the SEC23B Gene CDAN2 NGS Test, and who should undergo it?
The SEC23B gene NGS test is a comprehensive full-gene sequencing analysis that identifies pathogenic mutations causing Congenital Dyserythropoietic Anemia Type II, a rare hereditary blood disorder marked by ineffective red blood cell production, chronic anemia, jaundice, and progressive iron overload. This test is recommended for individuals of any age presenting with unexplained chronic hemolytic anemia, abnormal erythroblast morphology on bone marrow examination, elevated ferritin without clear etiology, or a positive family history of CDA. It is also critical for carrier screening in siblings of confirmed patients and for couples with consanguineous marriages who are planning pregnancy, as CDA II follows an autosomal recessive inheritance pattern. Genetic counselling is mandatory before and after testing.
2. How is the SEC23B genetic test performed and what is the expected turnaround time?
The test is performed on a blood sample, extracted DNA, or a single drop of blood collected on a DNA FTA card via our DHA-licensed VIP mobile phlebotomy service, with results delivered in 3 to 4 weeks. Our ISO-certified phlebotomist arrives at your home between 8 AM and 11 PM for a quick, virtually painless blood draw (3-5 mL of whole blood). The sample is transported in a validated temperature-controlled cold-chain system directly to our molecular genetics laboratory, where DNA is extracted and the entire SEC23B gene is sequenced using Next Generation Sequencing (NGS) at a minimum of 1000x depth of coverage. Bioinformatics analysis identifies single nucleotide variants (SNVs), small insertions/deletions, and copy number variations. Every pathogenic or likely pathogenic variant is confirmed by orthogonal methods. You receive a comprehensive clinical report reviewed by a DHA-licensed hematologist and a clinical geneticist.
3. What do my SEC23B test results mean for me and my family members?
A positive result confirms a molecular diagnosis of CDAN2, identifying the specific SEC23B mutation responsible for your condition, enabling targeted family cascade screening and informed reproductive planning through genetic counselling. If two pathogenic variants are identified (one inherited from each parent), the diagnosis of CDA Type II is molecularly confirmed. This result allows your hematologist to tailor management — including iron chelation therapy, folic acid supplementation, and transfusion protocols — to your specific genetic profile. A negative result (no pathogenic variant found) significantly reduces but does not entirely eliminate the possibility of CDA II, as rare deep intronic or regulatory mutations may escape detection. Variants of uncertain significance (VUS) require periodic reanalysis as scientific knowledge evolves. All results are discussed in a dedicated post-test telephonic consultation.
UAE Regulatory & Data Privacy Adherence
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All genomic data is encrypted, stored on UAE-based secure servers, and never shared with third parties without explicit patient authorization.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: This genetic test is performed strictly within the scope of DHA-licensed diagnostic services, adhering to all provisions on medical liability and patient consent.
- Federal Decree-Law No. 4 of 2016 on Medical Liability: Genetic testing of minors requires documented informed consent from both parents or legal guardians, with mandatory pre-test genetic counselling.
- ISO 9001:2015 Certification: Cert: INT/EGQ/2509DA/3139 — ensuring standardized quality management across all pre-analytical, analytical, and post-analytical phases.
Clinical & Logistical Metadata
| Test Name | SEC23B Gene CDAN2 (Congenital Dyserythropoietic Anemia Type II) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Peripheral Blood (3-5 mL), Buccal Swab, or FTA Card |
| Methodology Used | Next Generation Sequencing (NGS) with 1000x depth of coverage |
| ICD-10-CM Code | D56.4 |
| LOINC Code | 101464-8 |
| DHA Facility License & Address | DNA Labs UAE (DHA License No. 1143) – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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