Test Price
2,800 AED✅ Home Collection Available
PSAT1 Gene NGS Test for Phosphoserine Aminotransferase Deficiency – 2800 AED – DHA Licensed Laboratory
Executive Summary & Core Metrics
Trusted UAE Lab Executive Summary
- 99.9% Diagnostic Sensitivity – ISO 9001:2015 accredited NGS (Next-Generation Sequencing) with full PSAT1 gene coverage including all coding exons and splice junctions, zero ambiguity.
- Premium Home Collection – DHA-licensed, ISO-certified cold-chain VIP mobile phlebotomy; peripheral whole blood, extracted DNA, or FTA card accepted daily from 8 AM to 11 PM.
- Clinical Guidance – Complimentary telephonic post-test result interpretation by a Consultant Medical Geneticist with a detailed actionable report.
- Direct Insurance Billing – Instant verification via WhatsApp +971 54 548 8731; pre-authorisation support included.
Test Overview & Methodology
The PSAT1 gene NGS test detects pathogenic variants across the entire coding region and conserved splice sites of the PSAT1 gene, diagnosing phosphoserine aminotransferase deficiency — a rare autosomal recessive neurometabolic disorder that typically presents in infancy with severe developmental delay, progressive microcephaly, intractable seizures, and serine deficiency. Early molecular confirmation enables targeted L-serine supplementation therapy and informed family counselling.
| Feature | Our Test (PSAT1 NGS) | Closest Alternative (Single‑Gene Sanger) |
|---|---|---|
| Methodology | Next‑Generation Sequencing (NGS) – full coding region + splice sites | Sanger sequencing of selected exons only |
| Diagnostic Yield | >99.9 % – detects point mutations, small indels, and copy‑number variants* | ~85 % – may miss deep intronic or copy‑number changes |
| Turnaround Time | 3–4 weeks | 6–8 weeks |
| Sample Type | Peripheral whole blood, extracted DNA, or one drop on FTA card | Venous whole blood only |
| ISO Accreditation | ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) | Varies by laboratory |
*Copy‑number variant (CNV) detection available by MLPA reflex when clinically indicated.
Physician Insight & Safety Protocols
"A molecular diagnosis of phosphoserine aminotransferase deficiency is a critical step toward initiating L-serine supplementation and preventing irreversible neurological damage. However, genetic test results must always be interpreted within the full clinical context — including biochemical profiles, neuroimaging, and family history. I strongly advise sharing this report with your treating paediatric neurologist or metabolic specialist for integrated care."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Advisory
Do not alter or discontinue any prescribed medication — including L-serine, anticonvulsants, or dietary supplements — without consulting your treating specialist. Therapy adjustments must be guided by a qualified healthcare professional based on complete clinical and laboratory data.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Pregnant individuals should consult their obstetrician before proceeding with genetic testing. This test is not a substitute for urgent clinical evaluation or acute metabolic management.
- LEGAL Per UAE Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, minors require explicit written parental consent and a documented pre‑test genetic counselling session.
- ER Red Flags – Seek Immediate Medical Attention if You Observe:
- Sudden worsening of neurological symptoms — new or escalating seizures, loss of consciousness, severe hypotonia.
- Respiratory distress, extreme lethargy, or refusal to feed in an infant.
- Clinical signs suggestive of metabolic acidosis or hyperammonaemia (known associations with serine deficiency disorders).
Patient FAQ & Clinical Guidance
1. What is the PSAT1 gene test and what conditions does it diagnose?
The PSAT1 gene NGS test sequences the entire coding region and splice junctions of the PSAT1 gene to identify pathogenic mutations responsible for phosphoserine aminotransferase deficiency — a rare neurometabolic disorder characterised by infantile-onset developmental delay, microcephaly, spasticity, and treatment‑resistant epilepsy. Molecular confirmation is essential for initiating serine replacement therapy and providing accurate recurrence risk counselling.
2. How is sample collection performed, and when will I receive the results?
A DHA-licensed phlebotomist will visit your home between 8 AM and 11 PM under a temperature-controlled cold chain to collect a peripheral whole blood sample, extracted DNA, or a single dried blood spot on an FTA card. Your comprehensive NGS report with variant interpretation and clinical recommendations is delivered via a secure online portal within 3 to 4 weeks.
3. Does UAE health insurance cover the PSAT1 genetic test?
We offer direct insurance billing verification through WhatsApp +971 54 548 8731. Most major UAE insurers provide coverage when a valid physician referral and clinical justification are submitted. Our team handles the complete pre‑authorisation process on your behalf, minimising out‑of‑pocket expenses.
4. Who should consider this genetic test?
This test is indicated for infants, children, or adults presenting with unexplained developmental delay, microcephaly, seizures, or biochemical evidence of serine deficiency. It is also appropriate for asymptomatic siblings of an affected individual when carrier or confirmatory testing is requested by a clinical geneticist.
UAE Regulatory & Data Privacy Adherence
Your Data. Your Rights. Our Commitment.
- All genetic data 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 testing safety and informed consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Your genetic information is encrypted, access-controlled, and never shared with third parties without your explicit written consent.
- You have the right to access, rectify, and request deletion of your personal data in accordance with UAE PDPL Article 9.
Clinical & Logistical Metadata
| Test Name | PSAT1 Gene NGS Test for Phosphoserine Aminotransferase Deficiency |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks from sample receipt |
| Sample Type / Matrix | Peripheral whole blood, extracted DNA, or FTA card specimen – VIP mobile phlebotomy & temperature-controlled cold-chain home collection available daily 8 AM – 11 PM |
| Methodology Used | Next-Generation Sequencing (NGS) – full coding region and splice site analysis on Illumina platform, minimum 100× average depth of coverage |
| ICD-10-CM Code | E72.8 – Other specified disorders of amino-acid metabolism |
| LOINC Code | 94236-7 – DNA sequence analysis of specified gene for inherited disease |
| DHA Facility License & Laboratory Address | DHA Facility License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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