Test Price
2,800 AED✅ Home Collection Available
PSPH Gene Phosphoserine Phosphatase Deficiency Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 15189:2022 accredited next‑generation sequencing workflow.
Premium Logistics: VIP mobile phlebotomy & temperature‑controlled cold‑chain home collection across all seven Emirates (8 AM to 11 PM daily).
Clinical Guidance: Complimentary post‑test telephonic result interpretation by a DHA‑licensed consultant medical geneticist.
Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The PSPH gene phosphoserine phosphatase deficiency genetic test employs high‑depth next‑generation sequencing (NGS) to detect pathogenic and likely pathogenic variants in the PSPH gene, which are causative of autosomal recessive serine biosynthesis defects including Neu‑Laxova syndrome. This comprehensive molecular analysis delivers a definitive diagnosis for inherited metabolic disorders, enables targeted metabolic supplementation therapy, and facilitates recurrence risk counseling for families.
Comparative Sequencing Approaches
| Features | Our PSPH NGS Test | Single‑Gene Sanger Sequencing |
|---|---|---|
| Method | High‑depth NGS with copy number variation (CNV) analysis | Targeted capillary sequencing of pre‑specified exons |
| Scope | Complete PSPH gene (coding exons ± 20 bp flanking intronic regions) | Limited to one or two known familial variants |
| Analytic Sensitivity | >99.9% (validated by orthogonal Sanger confirmation) | ~99.0% for single‑nucleotide substitutions |
| Turnaround Time | 3–4 weeks | 2–3 weeks |
| Price | 2,800 AED | 1,800 – 2,200 AED (variable) |
Physician Insight & Safety Protocols
“As a DHA‑licensed consultant medical geneticist, I stress that this NGS test provides a powerful molecular diagnosis for phosphoserine phosphatase deficiency. A positive result confirms a genetic basis for serine metabolism dysfunction, but may not predict the full spectrum of clinical severity. Conversely, a negative result cannot rule out all rare or deep‑intronic variants not captured by this assay. I strongly recommend that all results be reviewed during a structured genetic counseling session with a qualified specialist before making any therapeutic or reproductive decisions.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Precautions
⛔ Exclusion Criteria & Safety Red Flags
- Blood transfusion or bone marrow transplantation within the preceding 2 weeks – donor‑derived DNA may confound variant interpretation.
- Minors (under 18 years) require documented parental or guardian consent per UAE Federal Decree‑Law No. 4 of 2016 on Medical Liability and pediatric protection standards.
- Acute febrile illness or active infection – sample collection should be deferred until full clinical recovery to prevent specimen degradation.
🚨 Seek Emergency Care Immediately If:
- New onset of seizures, severe hypotonia, encephalopathy, or rapid neurological deterioration.
- Genetic test results are not intended for acute emergency management; always follow your treating physician’s guidance.
Patient FAQ & Clinical Guidance
1. What is the PSPH gene test used for?
The PSPH gene test identifies pathogenic mutations that cause phosphoserine phosphatase deficiency, a rare autosomal recessive inborn error of serine metabolism. This condition can manifest as severe neurological impairment, intrauterine growth restriction, microcephaly, and congenital contractures (Neu‑Laxova syndrome). Early molecular diagnosis through this NGS assay enables prompt initiation of L‑serine and glycine supplementation, which may improve neurodevelopmental outcomes. The test also informs recurrence risk assessment for parents and at‑risk relatives.
2. What sample type is required, and how long do results take?
Results are available within 3 to 4 weeks from sample receipt. Acceptable specimen types include: 2–3 mL of whole blood collected in a lavender‑top EDTA tube, 5–10 µg of extracted genomic DNA, or a dried blood spot on an FTA card. All samples must be accompanied by a completed clinical history form and a three‑generation pedigree chart from a pre‑test genetic counseling session. For pediatric patients, a minimum of 1 mL of blood is sufficient.
3. Is home sample collection available in Dubai and across the UAE?
Yes, we provide VIP mobile phlebotomy and temperature‑controlled cold‑chain home collection, available daily from 8 AM to 11 PM. Our DHA‑licensed nurses serve all Emirates – Dubai, Abu Dhabi, Sharjah, Ajman, Umm Al Quwain, Ras Al Khaimah, and Fujairah – using strict aseptic technique and validated transport boxes that maintain specimen integrity. For patients outside the UAE, an international courier pickup can be arranged with pre‑approved shipping materials.
4. Can I proceed with the test without prior genetic counseling?
Pre‑test genetic counseling is strongly recommended and is available at no extra cost as part of our service. Our consultant medical geneticist will discuss the benefits, limitations, and potential implications of testing, including the possibility of incidental findings, variant of uncertain significance (VUS) results, and psychosocial impact. Informed consent is mandatory before sample collection proceeds.
5. Will my health insurance cover the cost of the test?
We can verify your insurance coverage directly via WhatsApp at +971 54 548 8731. Our billing team works with major UAE insurers and can provide a pre‑authorization letter if required. The self‑pay price is 2,800 AED, inclusive of all laboratory processing, bioinformatics analysis, and the post‑test consultation.
UAE Regulatory & Data Privacy Adherence
Data Protection & Compliance Framework
DNA Labs UAE operates under the governance of the Dubai Health Authority (DHA) Facility License Number 1143. All genetic data processing, storage, and transmission adhere strictly 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. Patient samples are de‑identified and encrypted throughout the clinical workflow; raw sequencing data is retained for a maximum of 10 years and can be securely deleted upon written request. No genetic information is shared with third parties without explicit, written informed consent.
Clinical & Logistical Metadata
| Test Name | PSPH Gene Phosphoserine Phosphatase Deficiency Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks from sample receipt |
| Sample Type / Matrix | Whole blood (EDTA), extracted genomic DNA, or dried blood spot (FTA card) |
| Methodology Used | High‑depth next‑generation sequencing (NGS) with CNV analysis, Sanger confirmation of reported variants |
| ICD‑10‑CM Code | E72.8 (Other specified disorders of amino‑acid metabolism) |
| LOINC Code | 82289‑0 (PSPH gene full sequencing in Blood) |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab Branding: DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians