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Test Price

2,800 AED

✅ Home Collection Available

SLC22A5 Gene Carnitine Deficiency Genetic Test in UAE | 2800 AED | DHA Licensed

Executive Summary & Core Metrics

  • Test: SLC22A5 Gene Sequencing for Primary Carnitine Deficiency
  • Price: 2,800 AED
  • Turnaround Time: 3–4 Weeks
  • Accuracy: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Laboratory
  • Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (8 AM–11 PM)
  • Clinical Guidance: Complimentary telephonic post-test interpretation by a DHA-licensed Genetic Consultant
  • Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

The SLC22A5 gene test detects primary carnitine deficiency using next-generation sequencing (NGS) to identify pathogenic variants in the organic cation transporter gene. This analysis enables precise risk assessment, carrier screening, and targeted metabolic management—essential for adults and children with suspected metabolic disorders.

Parameter Our Test (NGS) Closest Alternative (Targeted Genotyping)
Precision Comprehensive variant detection (SNVs, indels, CNVs) across entire coding region Limited to predefined hotspot mutations
Method Next Generation Sequencing (Illumina® platform, 100x depth) PCR + Sanger sequencing of selected exons
Turnaround Time 3 to 4 Weeks 4 to 6 Weeks

Physician Insight & Safety Protocols

“As a medical geneticist, I emphasize that this NGS-based test provides comprehensive coverage of the SLC22A5 gene. However, a negative result does not completely rule out carnitine deficiency; correlation with biochemical markers and clinical presentation is essential. Pre-test genetic counselling is mandatory to ensure informed decision-making.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Medication Advisory

⚠️ Do not discontinue prescribed carnitine supplements, anticonvulsants, or any chronic medication without consulting your treating physician. Abrupt withdrawal can precipitate metabolic decompensation.

Exclusion Criteria & Emergency Red Flags

  • Exclusion: Acute febrile illness, active infection, or recent blood transfusion within 4 weeks. Known interfering medication (valproic acid) requires special handling.
  • ER Alert: Seek immediate medical attention if the patient experiences sudden heart palpitations, chest pain, severe muscle weakness, hypoglycemic confusion, or seizures—possible signs of cardiac or metabolic crisis regardless of test results.

Patient FAQ & Clinical Guidance

1. What does the SLC22A5 genetic test detect and how reliable is it?

This test detects pathogenic DNA variants in the entire SLC22A5 gene using high-coverage Next Generation Sequencing, delivering >99.9% analytical sensitivity for known mutations.

2. What sample types are accepted and how is the collection performed?

We accept whole blood (EDTA), extracted DNA, or one drop of blood on an FTA card. Collection is performed through our VIP cold-chain home phlebotomy service.

3. Is genetic counselling included and what pre-test information is required?

Yes, a mandatory pre-test genetic counselling session is provided to draw a family pedigree and explain results implications. Clinical history and pedigree chart of affected family members must be provided.

UAE Regulatory & Data Privacy Adherence

This service strictly adheres to 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. All genetic data is processed in an ISO 9001:2015 certified facility (Cert: INT/EGQ/2509DA/3139) with encrypted storage and restricted access.

Clinical & Logistical Metadata

Test Name SLC22A5 Gene (Carnitine Deficiency) Sequencing
Price (AED) 2,800
Turnaround Time 3–4 Weeks
Sample Type / Matrix Peripheral Whole Blood (EDTA), Extracted DNA, or FTA Card
Methodology Used Next Generation Sequencing (NGS) – Illumina® Platform, 100x Depth
ICD-10-CM Code E71.42
LOINC Code 83092-2
DHA Facility License & Laboratory Address DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE — DNA Labs UAE

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