Test Price
2,800 AED✅ Home Collection Available
SLC25A19 Gene Sequencing (Amish Microcephaly Type) in UAE | 2,800 AED | DNA Labs UAE
Executive Summary & Core Metrics
Test Overview & Methodology
This definitive genetic test analyzes the SLC25A19 gene via Next-Generation Sequencing (NGS) with full CNV analysis. The test is critical for differential diagnosis in neonates presenting with profound microcephaly, seizures, and 2-ketoglutaric aciduria, distinguishing Amish microcephaly from other dysmorphologies by detecting pathogenic variants in the mitochondrial thiamine pyrophosphate carrier gene.
| Feature | Our Test (DHA-Licensed Lab) | Closest Alternative |
|---|---|---|
| Methodology | Full Gene NGS with CNV Analysis | Targeted Mutation Panel or Whole Exome |
| Diagnostic Precision | 99.9% Sensitivity for Coding Region Variants | May miss deep intronic or large del/dup variants |
| Turnaround Time | 3 to 4 Weeks (Expedited Options Available) | 6–12 Weeks (Standard Research Labs) |
Physician Insight & Safety Protocols
"Families carrying the diagnostic odyssey of unexplained neonatal microcephaly deserve the clarity that only definitive molecular testing can provide. This SLC25A19 gene sequencing assay, performed with full NGS coverage and CNV detection, offers a conclusive answer for a devastating condition. I counsel every family that the result, whether positive or negative, must be integrated with biochemical profiles and neuroimaging to guide management. A negative result does not rule out all genetic causes, and a positive result opens the door to targeted metabolic support and recurrence risk counseling for future pregnancies."
— Ms. Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Critical Medication Advisory
Do not discontinue or modify any prescribed medications, especially antiepileptics, without explicit consultation with your managing physician. Genetic diagnosis guides long-term care but does not replace acute symptom management.
Patient Safety Exclusion Criteria & Emergency Red Flags
Exclusion Criteria for Home Collection:
- Neonate with current, unstable sepsis or critical care admission.
- Active seizure episode at the time of phlebotomy.
- Inability to verify informed consent by legal guardian.
Emergency Red Flags (Proceed to ER Immediately):
- New-onset respiratory distress or apneic episodes.
- Status epilepticus or seizure lasting >5 minutes.
- Severe metabolic acidosis with altered consciousness.
Patient FAQ & Clinical Guidance
1. What is the SLC25A19 gene test for Amish-type microcephaly and how does NGS technology provide a definitive diagnosis?
This genetic test conclusively identifies disease-causing variants in the SLC25A19 gene, which causes lethal microcephaly by disrupting mitochondrial thiamine transport critical for brain development. Full gene NGS with CNV analysis captures point mutations, small indels, and large deletions or duplications across all coding exons.
2. Why is a genetic counseling session required before proceeding with the SLC25A19 test for my child?
Pre-test genetic counseling is mandatory to construct an accurate pedigree, discuss recurrence risks, and ensure informed consent. This session connects the clinical phenotype with the molecular findings, enabling precise diagnostic interpretation and avoiding ambiguous results.
3. Is an FTA card sample as reliable as a standard blood draw for DNA extraction in neonates?
DNA extracted from a properly collected FTA dried blood spot yields equivalent high-quality genomic material for NGS sequencing, with the added benefits of safer transport, room-temperature stability, and minimal distress for the pediatric patient.
UAE Regulatory & Data Privacy Adherence
All genetic data is processed in 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 are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | SLC25A19 Gene Sequencing (Amish Microcephaly Type) |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood or FTA Dried Blood Spot Card |
| Methodology Used | Next-Generation Sequencing (NGS) with CNV Analysis |
| ICD-10-CM Code | Q02 (Microcephaly), E75.5 (Mitochondrial thiamine pyrophosphate carrier deficiency) |
| LOINC Code | 58217-2 |
| DHA Facility License & Laboratory Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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