Test Price
2,800 AED✅ Home Collection Available
SARDH Gene Sarcosinemia Genetic Test in UAE | 2800 AED | DHA Licensed Molecular Diagnostics
Executive Summary & Core Metrics
Guaranteed Diagnostic Excellence – SARDH Gene NGS Analysis
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 15189 accredited Next-Generation Sequencing (NGS) with Sanger confirmation for all variant classes.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM for whole blood or DNA FTA card specimens.
- Clinical Guidance: Complimentary post-test telephonic interpretation session with a DHA-licensed Consultant Medical Geneticist including family pedigree counselling.
- Insurance: Quick Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This advanced Next-Generation Sequencing (NGS) test deciphers the entire SARDH gene for pathogenic variants linked to sarcosinemia, a rare autosomal recessive inborn error of amino acid metabolism caused by sarcosine dehydrogenase deficiency. Unlike biochemical screens that only quantify sarcosine levels, this molecular assay provides definitive genotype–phenotype correlation.
Designed for patients with unexplained developmental delay, intellectual disability, speech impairment, epilepsy, or a family history of metabolic disorders. Recommended by Consultant Medical Geneticists, Metabolic Paediatricians, and General Practitioners for confirmatory diagnosis after abnormal newborn screening or elevated plasma sarcosine.
| Feature | Our Test: SARDH NGS DNA | Closest Alternative: Tandem MS/MS Metabolic Screen |
|---|---|---|
| Precision | 99.9% diagnostic sensitivity for SARDH mutations; identifies all variant types (missense, nonsense, splice-site, deletions, duplications). | Only quantifies sarcosine and sarcosine:creatinine ratio; cannot distinguish genetic subtypes or carrier status. |
| Methodology | Next-Generation Sequencing (Illumina® NovaSeq™) with orthogonal Sanger confirmation and bioinformatic analysis aligned to ACMG/AMP 2024 guidelines. | Tandem Mass Spectrometry (MS/MS) – biochemical screening only. |
| Turnaround Time | 3–4 weeks (comprehensive report with genetic counselling referral included). | 48–72 hours (rapid but non-confirmatory). |
Physician Insight & Safety Protocols
“As a DHA-licensed Consultant Medical Geneticist, I emphasise that this NGS test provides definitive molecular confirmation for sarcosinemia, yet results must always be interpreted alongside clinical symptoms, biochemical markers, and family history. A pathogenic or likely pathogenic variant in SARDH informs dietary management (methionine-restricted diet) and recurrence risk counselling. However, no genetic test replaces longitudinal clinical assessment. Never discontinue or adjust prescribed therapies—including sodium benzoate or anticonvulsants—without direct medical supervision.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Exclusion Criteria
- Inability to provide informed consent (or minor without legal guardian consent as per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability).
- Refusal to participate in mandatory pre-test genetic counselling session (essential for informed decision-making and pedigree analysis).
- Acute intercurrent illness with fever >38.5°C – reschedule to avoid stress on sample quality and patient safety.
Advisory Guidelines
- Medication Warning: Do not discontinue any prescribed medication (e.g., sodium benzoate, anti-epileptics, vitamin co-factors) without consulting your treating physician. Genetic results may inform management but require medical supervision.
- Emergency Red Flags: Sudden severe vomiting, lethargy, altered consciousness, progressive developmental regression, new-onset seizures, or signs of acute acidosis (rapid breathing, confusion). Seek immediate hospital care; do not wait for this test result.
- Pre-test counselling includes discussion of potential secondary findings and implications for family members. All data handled under strict confidentiality protocols.
Patient FAQ & Clinical Guidance
1. What is the SARDH Gene Sarcosinemia Genetic Test and why is it performed?
The SARDH Genetic Test scans the entire SARDH gene for disease-causing mutations linked to sarcosinemia, an autosomal recessive disorder of amino acid metabolism caused by deficient sarcosine dehydrogenase enzyme activity. This test is indicated when a patient presents with developmental delay, speech impairment, intellectual disability, or elevated sarcosine on newborn metabolic screening. It delivers a definitive molecular diagnosis that guides dietary intervention, metabolic monitoring, and genetic family planning.
2. How is the sample collected and are there special preparations?
A standard whole blood sample (3–5 mL in EDTA) or a dried blood spot on a DNA FTA card is collected by our temperature-controlled cold-chain phlebotomist at your home. No fasting is required for genomic DNA analysis. A mandatory pre-test genetic counselling session (via telephone or video) will record your clinical history, construct a three-generation pedigree, and explain all possible outcomes and implications. Your personal data is protected under 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. Collection is available daily from 8 AM to 11 PM.
3. What do the results mean and how will I receive them?
A DHA-licensed Consultant Medical Geneticist will interpret your report, which classifies all identified variants according to ACMG/AMP 2024 criteria (Pathogenic, Likely Pathogenic, Variant of Uncertain Significance, Benign). You will receive a digitally signed report within 3–4 weeks via our secure patient portal. A 30-minute complimentary telephonic interpretation session is included to explain the findings, discuss recurrence risks, and coordinate a referral to a metabolic specialist or genetic counsellor if a pathogenic variant is identified.
UAE Regulatory & Data Privacy Adherence
Your Data, Your Rights – Full Compliance with UAE Federal Law
- Data Protection: All genetic and personal data are processed exclusively under Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL). Your data are encrypted, access-controlled, and never shared with third parties without explicit written consent.
- Health Information Governance: We adhere strictly to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring secure electronic health record handling and audit trail integrity.
- Medical Liability & Consent: Pre-test counselling and informed consent follow the standards set by Federal Decree-Law No. 4 of 2016 on Medical Liability. You retain the right to withdraw consent at any stage prior to sample processing.
- DHA Oversight: Our laboratory operates under DHA Facility License Number 1143 and is subject to periodic inspection and quality audits by the Dubai Health Authority.
Clinical & Logistical Metadata
| Test Name | SARDH Gene Sarcosinemia Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or DNA FTA Card |
| Methodology Used | Next-Generation Sequencing (Illumina® NovaSeq™) with Sanger Confirmation |
| ICD-10-CM Code | E72.5 |
| LOINC Code | 94222-4 |
| 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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