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Test Price

2,800 AED

✅ Home Collection Available

DVL1 Gene (Robinow Syndrome, Autosomal Dominant Type 2) Genetic Test in UAE

Executive Summary & Core Metrics

  • Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified Processing.
  • Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
  • Clinical Guidance: Complimentary Telephonic Post-Test Clinical Guidance for result interpretation.
  • Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
  • Price: 2,800 AED — All-inclusive (testing, counseling, and logistics).

Test Overview & Methodology

The DVL1 gene next-generation sequencing (NGS) test diagnoses autosomal dominant Robinow syndrome type 2 with greater than 99% accuracy. It detects pathogenic variants in the DVL1 gene using comprehensive NGS technology with confirmatory Sanger sequencing for all clinically significant findings. This test is essential for UAE patients presenting with dysmorphic facial features, mesomelic limb shortening, genital hypoplasia, and a family history suggestive of Robinow syndrome. Results guide clinical management, surveillance, and informed reproductive planning.

Feature Our Test (DVL1 NGS + Sanger) Closest Alternative (Sanger Only)
Diagnostic Precision 99.9% sensitivity (NGS + Sanger confirmation covers deep intronic and large deletion/duplication variants) ~92% sensitivity (misses deep intronic regions and large structural rearrangements)
Methodology NGS on Illumina platform with orthogonal Sanger confirmation, ACMG 2024 variant classification Sanger sequencing of selected exons only
Turnaround Time 3 – 4 Weeks 4 – 6 Weeks

Physician Insight & Safety Protocols

"Genetic confirmation of Robinow syndrome provides families with a definitive diagnosis, enabling precise management and informed reproductive decisions. The DVL1 gene analysis using NGS delivers comprehensive coverage of clinically relevant variants. Results must always be interpreted in the context of the full clinical phenotype and family history."

— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Important Medication Advisory

⚠️ Do not discontinue, alter, or initiate any prescribed medication without consulting your treating physician. Genetic test results may inform medication management, but therapeutic changes must be made only under direct medical supervision.

Exclusion Criteria & Emergency Red Flags

  • Exclusion: Recent blood transfusion (within 2 weeks) may interfere with germline DNA analysis; confirm a transfusion-free interval before sample collection.
  • Exclusion: Inadequate blood volume or improper FTA card drying; ensure correct collection technique per provided instructions.
  • Exclusion: Prenatal diagnosis without formal genetic counseling and written maternal consent is not performed.
  • Emergency Red Flag: Acute respiratory distress, severe skeletal deformity with neurological compromise, or signs of spinal cord compression — proceed to emergency care before scheduling genetic testing.

Patient FAQ & Clinical Guidance

1. What does the DVL1 gene test for?

The DVL1 gene test precisely confirms Robinow syndrome type 2 by detecting pathogenic DVL1 variants using NGS with Sanger confirmation. This genetic test examines the entire coding sequence and splice junctions of the DVL1 gene to identify mutations responsible for the characteristic facial dysmorphism, mesomelic limb shortening, and genital hypoplasia seen in autosomal dominant Robinow syndrome type 2. Results guide clinical management, surveillance protocols, and family planning decisions.

2. How is the test performed?

A simple peripheral blood sample or a capillary blood drop on an FTA card is collected. Our VIP Mobile Phlebotomy service sends a certified phlebotomist to your location between 8 AM and 11 PM daily. After DNA extraction, next-generation sequencing is performed on the Illumina platform with confirmatory Sanger sequencing for all clinically significant variants, ensuring comprehensive and reliable results. The process follows ISO 9001:2015 certified protocols.

3. What is the turnaround time for results?

Test results are delivered within 3 to 4 weeks from sample receipt at the laboratory. The report includes a detailed interpretation of identified variants, their clinical significance according to current ACMG guidelines, inheritance information, and recommendations for clinical follow-up. Pre-test and post-test genetic counseling sessions are available in English and Arabic.

4. Who should consider this genetic test?

This test is indicated for individuals with clinical features suggestive of Robinow syndrome including characteristic facial appearance (hypertelorism, broad nasal bridge, triangular mouth), mesomelic limb shortening, genital hypoplasia, and for family members of individuals with a confirmed DVL1 pathogenic variant. It is also appropriate for couples with a family history of Robinow syndrome seeking reproductive risk assessment.

UAE Regulatory & Data Privacy Adherence

This service operates in full compliance with UAE federal regulations governing genetic testing, medical data protection, and patient rights:

  • Data Privacy: Adheres to Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) — all genetic data is encrypted, access-controlled, and processed with explicit patient consent.
  • Health Data Framework: Complies with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields — ensuring secure electronic health information exchange.
  • Clinical Safety & Consent: Follows Federal Decree-Law No. 4 of 2016 on Medical Liability — mandating informed consent, genetic counseling, and patient safety protocols for all genetic testing procedures.
  • Quality Certification: ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139).

Clinical & Logistical Metadata

Test Name DVL1 Gene (Robinow Syndrome, Autosomal Dominant Type 2) Genetic Test – NGS with Sanger Confirmation
Price (AED) 2,800
Turnaround Time 3 – 4 Weeks
Sample Type / Matrix Peripheral Whole Blood (EDTA tube) or Capillary Blood on FTA Card – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM
Methodology Used Next-Generation Sequencing (NGS) on Illumina platform with orthogonal Sanger confirmation for all clinically significant variants; ACMG variant classification guidelines
ICD-10-CM Code Q87.1 (Congenital malformation syndromes predominantly associated with short stature – Robinow syndrome)
LOINC Code 21636-6 (DNA mutation analysis 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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Available in Arabic, English, Hindi & Urdu

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All reports reviewed by DHA-Certified physicians