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Test Price

2,800 AED

✅ Home Collection Available

LHCGR Gene Leydig Cell Hypoplasia Type 1 Genetic Test in UAE | 2800 AED | DHA Licensed

Executive Summary & Core Metrics

Executive Summary – Clinical Confidence, UAE Logistics

  • Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS processing.
  • 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 LHCGR (Luteinizing Hormone/Choriogonadotropin Receptor) gene NGS test uncovers pathogenic variants causing Leydig cell hypoplasia type 1—a rare autosomal recessive 46,XY disorder of sex development that leads to complete lack of masculinization. This definitive molecular diagnosis guides sex assignment decisions, hormone therapy planning, and genetic counselling for affected families.

Methodology: Next Generation Sequencing (NGS) with Sanger validation of all detected variants. The test targets the entire coding region and splice sites of the LHCGR gene with a minimum coverage depth of 100x, ensuring 99.9% sensitivity for single nucleotide variants and small insertions/deletions.

Parameter Our LHCGR NGS Test Hormonal Profiling + Imaging
Diagnostic Precision 99.9% sensitivity for LHCGR mutations Suggestive but non-confirmatory; cannot differentiate from other androgen synthesis defects
Methodology Next Generation Sequencing (NGS) with Sanger validation LC-MS/MS for testosterone/DHT ratio, ultrasound/MRI for gonads
Turnaround Time 3 to 4 Weeks 3–5 working days (but inconclusive)
Clinical Utility Identifies carrier status, recurrence risk, and definitive diagnosis Limited to phenotypic description

Physician Insight & Safety Protocols

Insight from Consultant Medical Genetics – Lina Osama Zaki Quteineh | DHA Registration ID: 9294403

“Leydig cell hypoplasia type 1 is a life-altering diagnosis that demands absolute clarity. Our NGS-based approach provides that clarity, but it must be interpreted within the full clinical picture—endocrine profiles, imaging, and family history. I personally ensure that every family receives post-test counselling to navigate the complex decisions ahead.”

Advisory – Medication and Hormonal Therapy

⚠️ Do not discontinue prescribed medication or hormonal therapy without consulting your DHA-licensed physician.

Patient Safety – Exclusion Criteria & Emergency Red Flags

  • Exclusion Criteria: Individuals who have received an allogeneic bone marrow or stem cell transplant within the previous 12 months should opt for buccal swab DNA collection to avoid donor DNA contamination.
  • Exclusion Criteria: Active severe bleeding disorders; discuss with your phlebotomist.
  • ER Red Flags: If your newborn displays severe vomiting, dehydration, lethargy, or shock alongside ambiguous genitalia, seek immediate ER care—not solely for this test. While Leydig cell hypoplasia itself does not cause adrenal crisis, these symptoms warrant urgent exclusion of congenital adrenal hyperplasia (CAH) or salt-wasting disorders.
  • ER Red Flags: Sudden testicular pain or swelling in a pubertal-age child with known Leydig cell hypoplasia could indicate germ cell tumor risk and requires urgent urological assessment.

Patient FAQ & Clinical Guidance

1. What is LHCGR gene Leydig cell hypoplasia type 1 and who should be tested?

The LHCGR gene mutation causes complete Leydig cell hypoplasia type 1—a condition where XY fetuses develop female external genitalia despite normal testes. This definitive genetic test identifies the mutation and is recommended for newborns with ambiguous genitalia, family history of sex development disorders, or confirmation before sex assignment surgery.

2. How is the NGS test performed and what is the turnaround time?

A single blood draw (or one drop on an FTA card) is collected by a certified phlebotomist at your home via our VIP Mobile Phlebotomy service. DNA is then extracted and sequenced using high-coverage NGS with Sanger validation of pathogenic variants. The laboratory turnaround time is 3 to 4 weeks from sample receipt.

3. Is this LHCGR gene test covered by insurance in the UAE?

Direct billing verification via WhatsApp (+971 54 548 8731) confirms coverage with leading UAE insurers including Daman, NAS, Neuron, and MedGulf based on policy terms and clinical necessity. We handle all pre-authorization paperwork and insurance correspondence.

UAE Regulatory & Data Privacy Adherence

This genetic test is performed in full compliance with UAE federal regulations: Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) governs all patient data handling, and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields ensures secure electronic health records. Clinical testing safety and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE holds DHA Facility License No. 1143 and is ISO 9001:2015 certified (INT/EGQ/2509DA/3139).

Clinical & Logistical Metadata

Test Name LHCGR Gene Sequencing – Leydig Cell Hypoplasia Type 1
Price (AED) 3,800
Turnaround Time 3 to 4 Weeks
Sample Type / Matrix Whole Blood (EDTA) or 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) with Sanger Validation
ICD-10-CM Code E29.1 (Testicular hypofunction)
LOINC Code 81264-5 (Hereditary endocrine system disorder gene sequencing panel)
DHA Facility License & Laboratory Address DHA Facility License Number: 1143
Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE
Corporate Lab: DNA Labs UAE

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