Test Price
2,800 AEDโ Home Collection Available
ESCO2 Gene Roberts Syndrome Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Comprehensive next-generation sequencing (NGS) analysis of the ESCO2 gene for definitive diagnosis of Roberts syndrome. Achieves 99.9% diagnostic sensitivity in an ISO 9001:2015 accredited laboratory. Includes VIP mobile phlebotomy home collection with temperature-controlled cold-chain logistics and post-test telephonic clinical guidance by DHA-licensed genetic counselors.
- โ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
- โ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Daily 8 AM โ 11 PM).
- โ Clinical Guidance: Telephonic Post-Test Clinical Guidance in Result Interpretation by DHA-Licensed Counselors.
- โ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This ESCO2 gene sequencing test employs next-generation sequencing to analyze all coding exons, splice junctions, and known deep intronic hotspots. It is essential for affected children, families, and clinicians to guide early intervention, genetic counseling, and reproductive planning. The assay detects single nucleotide variants, small insertions and deletions, and copy number alterations within the ESCO2 gene with high analytical sensitivity.
| Feature | ESCO2 NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Method | Full Gene Sequencing (NGS) | Targeted single-variant analysis |
| Detection Range | All exonic regions, splice sites, and known deep intronic hotspots | One predefined mutation only |
| Sensitivity (SNV/indels) | >99.9% | ~99.5% (limited to known variant) |
| Turnaround Time | 3โ4 Weeks | 2โ4 Weeks |
| Clinical Utility | Comprehensive diagnosis, carrier testing, family screening | Only confirms previously known family variant |
Physician Insight & Safety Protocols
โAs a Consultant Medical Geneticist, I recognize the profound responsibility that accompanies a genetic diagnosis for any family. The ESCO2 gene test offers precise molecular confirmation of Roberts syndrome, yet results must always be contextualized within the full clinical presentation and family pedigree. A negative result does not completely exclude the syndrome, as rare structural rearrangements or deep intronic variants may remain undetected by standard NGS. Comprehensive pre-test and post-test genetic counseling is essential.โ โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
โ ๏ธ Important Clinical Advisory
Genetic test results should never be used as the sole basis for altering a patient's medication or therapeutic regimen. All clinical decisions must be made in consultation with the managing physician or a qualified genetics specialist. Do not discontinue any prescribed therapy without explicit medical guidance.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Sample collection may be deferred if the patient has an acute febrile illness or is hemodynamically unstable; consult our team.
- Exclusion: Recent whole blood transfusion (< 2 weeks) may cause mixed chimerism, potentially interfering with germline DNA analysis.
- Red Flag โ ER Visit: If the child develops severe respiratory distress, cyanosis, uncontrolled seizures, or signs of sepsis, seek immediate emergency care before proceeding with the test.
Patient FAQ & Clinical Guidance
1. What is the ESCO2 Gene Roberts Syndrome NGS Test used for?
Snippet: It identifies ESCO2 gene mutations responsible for Roberts syndrome, enabling accurate diagnosis and family risk assessment.
This next-generation sequencing test analyzes the entire coding region of the ESCO2 gene to detect pathogenic variants linked to Roberts syndrome, a rare autosomal recessive disorder. The result helps clinicians confirm the diagnosis, differentiate from other dysmorphologic conditions, provide recurrence risk for family members, and plan appropriate medical and surgical management. Genetic counseling before and after testing is strongly recommended to interpret the implications fully.
2. How is the sample collected for this genetic test?
Snippet: Blood sample, extracted DNA, or blood spot on FTA card collected by our home phlebotomy team for genetic analysis.
We offer multiple sample options: a standard venipuncture whole blood draw (3โ5 mL in EDTA tube), previously extracted DNA, or a simple finger-stick drop of blood dried on an FTA card. Our VIP mobile phlebotomy home-collection service operates from 8 AM to 11 PM daily, using temperature-controlled cold-chain logistics to preserve DNA integrity. The collection is performed by DHA-licensed phlebotomists and is virtually painless for children. After collection, the sample is transported immediately to our ISO-certified laboratory for processing.
3. Does a positive result mean my child will have severe symptoms?
Snippet: A positive result confirms the genetic diagnosis, but symptom severity varies; genetic counseling provides detailed prognosis and management guidance.
A positive ESCO2 mutation confirms the underlying genetic cause of Roberts syndrome, but the clinical spectrum ranges from severe phocomelia and early lethality to milder limb reduction defects and facial dysmorphism without intellectual disability. Multiple factors, including the type of mutation and epigenetic modifiers, influence severity. Your genetic counselor will correlate the specific variant with published outcomes and help you understand the likely trajectory, as well as coordinate care with neonatology, orthopedics, and craniofacial specialists.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
- โ Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ Full Data Privacy Compliance
- โ Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields โ Health Data Protection
- โ Federal Decree-Law No. 4 of 2016 on Medical Liability โ Clinical Safety & Patient Consent
- โ Laboratory Accreditation: ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139)
- โ DHA Facility License No. 1143 โ Dubai Healthcare City, Dubai, UAE
Clinical & Logistical Metadata
| Test Name | ESCO2 Gene Roberts Syndrome Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (NGS) โ Full Gene Coverage |
| ICD-10-CM Code | Q87.2 |
| LOINC Code | 81315-5 |
| DHA Facility License & Laboratory Address | License No. 1143 โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE โ DNA Labs UAE |
ุฏุนู ุซูุงุฆู ุงููุบุฉ ู ุชุงุญ
ุงูุชุญูู ู ู ุงูุชุบุทูุฉ ุงูุชุฃู ูููุฉ
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
ุชููู ุนู ุงูุชุฎู ูู. ุฃุฑุณู ุตูุฑุฉ ู ู ุจุทุงูุฉ ุงูุชุฃู ูู ููุตูุฉ ุงูุทุจูุจ ุฅูู ูุฑูู ุงูุชุญูู ุงูู ุนุชู ุฏ ู ู ููุฆุฉ ุงูุตุญุฉ ุจุฏุจู ุนุจุฑ ุงููุงุชุณุงุจ. ุงุญุตู ุนูู ุชุญุฏูุซ ุงูุญุงูุฉ ูู ุฏูุงุฆู.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians