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Test Price

2,800 AED

✅ Home Collection Available

MED12 Gene Lujan-Fryns Syndrome Genetic Test in Dubai | 2800 AED | DHA Licensed Laboratory

Executive Summary & Core Metrics

  • Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 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).
  • Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
  • Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

The MED12 Gene Lujan-Fryns Syndrome Genetic Test is a targeted next-generation sequencing analysis that identifies pathogenic variants in the MED12 gene associated with X-linked intellectual disability and marfanoid habitus. This comprehensive assay reads the entire coding region, ensuring no variant is missed.

Feature Our Test Closest Alternative
Precision Full MED12 gene sequencing (NGS, >99.9% sensitivity) Targeted single-exon Sanger sequencing (limited resolution)
Method NGS with CNV detection & bioinformatic triad filtering Multiplex Ligation-dependent Probe Amplification (MLPA) only
Speed 3-4 Weeks (comprehensive report with clinical annotation) 6-8 Weeks (fragmented workflow)

Physician Insight & Safety Protocols

“As a clinical geneticist, I remind every family that a genetic test result is a single piece of a larger clinical puzzle. The MED12 test provides clarity, but it must be interpreted alongside a detailed dysmorphology exam and developmental history. Early diagnosis paves the way for tailored developmental interventions and family planning.”

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

Advisory: Medication Warning

Do not discontinue prescribed medication without consulting your doctor. This genetic test does not substitute for ongoing clinical management or acute medical care.

Exclusion Criteria & Emergency Red Flags

  • Exclusion criteria: Patient unable to provide informed consent (or legal guardian consent under UAE Personal Data Protection Law). Active febrile illness requiring immediate medical attention.
  • Sample limitations: Blood draw from a non-fasting state does not affect DNA quality; however, heavily hemolyzed or clotted samples may require recollection.
  • Emergency red flags: This test is not intended for acute diagnosis. If the proband is in respiratory distress, severe seizure, or acute cardiovascular decompensation, seek emergency care before proceeding with sample collection.

Patient FAQ & Clinical Guidance

1. Why is NGS used for the MED12 gene instead of a single-exon test?

Next‑Generation Sequencing reads the entire MED12 coding region in one assay, ensuring no pathogenic variant is missed even if clinical features are atypical. This provides comprehensive coverage and higher diagnostic yield.

2. Can this test detect carrier status in female family members?

Yes, the assay identifies heterozygous pathogenic variants, directly confirming carrier status and enabling precision reproductive counselling and preimplantation genetic diagnosis planning.

3. Is the home collection service compliant with UAE genetic data privacy laws?

Absolutely, all procedures adhere to the UAE Personal Data Protection Law (Federal Decree-Law No. 45 of 2021) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Samples are coded, transported under cold-chain, and processed in an ISO 9001:2015 certified facility.

UAE Regulatory & Data Privacy Adherence

Regulatory Compliance & Data Protection

This test is performed under DHA Facility License Number 1143. All data handling complies with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 regarding health information and communication technology. Clinical safety and patient consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability.

Clinical & Logistical Metadata

Test Name MED12 Gene Lujan-Fryns Syndrome Genetic Test
Price (AED) 2,800
Turnaround Time 3-4 Weeks (21-28 Days)
Sample Type / Matrix Peripheral Whole Blood (EDTA)
Methodology Used Next-Generation Sequencing (NGS) with CNV Detection
ICD-10-CM Code Q87.8
LOINC Code 51968-8
DHA Facility License & Laboratory Address License 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE

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All reports reviewed by DHA-Certified physicians