Test Price
2,800 AED✅ Home Collection Available
L2HGDH Gene L-2-Hydroxyglutaric Aciduria Genetic Test in UAE | 2800 AED | DHA Compliant
Executive Summary & Core Metrics
This targeted genetic test analyses the entire coding region of the L2HGDH gene to diagnose L-2-hydroxyglutaric aciduria, a rare neurometabolic disorder. The assay employs next-generation sequencing (NGS) with 500x average depth coverage to detect single nucleotide variants, small insertions and deletions, and copy number variations at 99.9% analytical sensitivity. The test is processed under ISO 15189 and ISO 9001:2015 accredited protocols and includes telephonic post-test clinical guidance from a DHA-licensed consultant medical geneticist.
Test Overview & Methodology
The L2HGDH NGS assay sequences the complete coding region and exon-intron boundaries of the L2HGDH gene using Illumina NovaSeq X Plus dual-strand consensus chemistry. Bioinformatics analysis applies population frequency filters (gnomAD, ClinVar) and in silico pathogenicity predictors (SIFT, PolyPhen-2, CADD) to classify variants per ACMG/AMP guidelines. All reportable variants are confirmed by Sanger sequencing before final release.
| Feature | Our Test (L2HGDH NGS) | Closest Alternative |
|---|---|---|
| Precision | Full gene sequencing + CNV analysis; analytical sensitivity >99.9% | Single-exon MLPA or enzymatic assay – lower diagnostic accuracy |
| Method | Illumina NovaSeq X Plus with dual-strand consensus sequencing | Sanger sequencing of selected hotspots only |
| Speed | 3–4 Weeks with expedited DHA-compliant report | 6–8 Weeks with limited bioinformatic interpretation |
Physician Insight & Safety Protocols
“A molecular diagnosis of L-2-hydroxyglutaric aciduria requires careful integration of clinical presentation, biochemical markers (elevated 2-hydroxyglutaric acid in urine), and imaging findings. A negative result or a variant of uncertain significance does not rule out the disorder. I strongly recommend that patients continue prescribed riboflavin and anticonvulsant therapy unless explicitly instructed otherwise by their treating neurologist.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Critical Medication Advisory
Abrupt discontinuation of anticonvulsant medications or riboflavin can precipitate acute metabolic decompensation with life-threatening acidosis. Always consult your managing physician before making any changes to prescribed therapies.
Exclusion Criteria & Emergency Red Flags
- Inability to provide written informed consent; for minors, guardian consent is mandatory under UAE Federal Law No. 2 of 2019.
- Active febrile illness – postpone sample collection until the patient has been afebrile for 24 hours if a home draw is planned.
- Insufficient sample quality (hemolyzed blood or severely degraded DNA) may require redraw.
- Sudden worsening of seizures, loss of consciousness, or severe metabolic acidosis requires immediate emergency care; inform the emergency team about suspected L-2-hydroxyglutaric aciduria.
Patient FAQ & Clinical Guidance
1. How accurate is the L2HGDH NGS test for detecting L-2-hydroxyglutaric aciduria?
A: The NGS test delivers 99.9% analytical sensitivity and greater than 99% specificity by sequencing the complete L2HGDH gene at 500x average depth, enabling detection of both known pathogenic variants and novel mutations that may be missed by targeted hotspot assays.
2. Can I provide a buccal swab or FTA card instead of a blood draw?
A: Yes, we accept one drop of blood on an FTA card, extracted DNA, or a buccal swab. All alternative specimen types achieve identical analytical performance when collected using our ISO-certified kit and maintained under cold-chain conditions.
3. Is genetic counselling included, and can I receive my result in Arabic?
A: A pre-test pedigree assessment and a post-test telephonic counselling session with a DHA-licensed consultant medical geneticist are provided at no additional cost. The interpretative report and counselling are both available in formal medical Arabic upon request.
4. How long does it take to receive my results?
A: The standard turnaround time is 3–4 weeks from sample receipt. Expedited processing is available for urgent clinical cases and includes a preliminary verbal report within 15 business days.
5. Will my health insurance cover this genetic test?
A: Many UAE insurers provide partial or full coverage for diagnostic genetic testing when ordered by a specialist. Our billing team can verify your direct billing eligibility via WhatsApp at +971 54 548 8731 before sample collection.
UAE Regulatory & Data Privacy Adherence
Data Protection & Legal Compliance
All genetic data generated by this test is processed and stored in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Clinical safety and patient consent protocols adhere strictly to Federal Decree-Law No. 4 of 2016 on Medical Liability. Results are released only to the ordering physician or the patient after verified identity confirmation. No genetic data is shared with third parties without explicit written consent.
Clinical & Logistical Metadata
| Test Name | L2HGDH Gene L-2-Hydroxyglutaric Aciduria Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks (expedited available) |
| Sample Type / Matrix | Whole Blood, FTA Card, Buccal Swab, or Extracted DNA |
| Methodology Used | Next Generation Sequencing (NGS) – Illumina NovaSeq X Plus with dual-strand consensus chemistry and CNV analysis |
| ICD-10-CM Code | E72.3 (Disorders of lysine and hydroxylysine metabolism) |
| LOINC Code | 94222-8 (L2HGDH gene mutation analysis in Blood or Tissue by Molecular genetics method) |
| DHA Facility License & Laboratory Address | License: 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
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians