Test Price
2,800 AED✅ Home Collection Available
PITX1 Gene Clubfoot Genetic Test in UAE – 2,800 AED
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited processing.
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (8 AM – 11 PM).
Clinical Guidance: Complimentary telephonic post-test clinical correlation with a DHA-licensed genetic counsellor.
Insurance Support: Direct billing verification via WhatsApp +971 54 548 8731.
Core Metrics
- Test Price: 2,800 AED (all-inclusive)
- Turnaround Time: 3–4 weeks
- Sample Type: Blood (EDTA), DNA, or FTA card
- Methodology: Next-Generation Sequencing (Illumina)
- DHA License: 1143
Test Overview & Methodology
The PITX1 Gene Clubfoot Genetic Test sequences the entire coding region and splice sites of the PITX1 gene using next-generation sequencing (Illumina platform). It detects pathogenic variants associated with isolated and syndromic congenital talipes equinovarus (clubfoot), including single nucleotide variants, small insertions/deletions, and copy-number variations (confirmed by MLPA). The test provides definitive molecular confirmation for infants, children, and adults requiring precise dysmorphology work‑up or genetic counselling.
| Feature | PITX1 Clubfoot NGS (Our Test) | Sanger Sequencing PITX1 (Single-Gene) |
|---|---|---|
| Precision | 99.9% sensitivity; full coding region + splice sites + CNVs | ~98% sensitivity; limited to SNVs and small indels |
| Methodology | Next-Generation Sequencing (Illumina®) + MLPA for CNVs | Capillary electrophoresis (single-amplicon sequencing) |
| Turnaround Time | 3–4 weeks | 2–3 weeks |
| Cost (AED) | 2,800 | ~2,200 |
| Clinical Scope | Detects SNVs, indels, CNVs (MLPA confirmed) | Primarily SNVs and small indels |
Physician Insight & Safety Protocols
“As a DHA‑licensed Consultant Medical Geneticist, I emphasise that this test is a powerful tool for confirming the molecular aetiology of isolated clubfoot, but it must always be interpreted in the context of a thorough clinical evaluation by a paediatric orthopaedist or clinical geneticist. A negative result does not exclude all genetic causes, and parental expectations should be managed with post‑test counselling.”
– Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Note
⚠️ Do not discontinue any prescribed medication or orthopaedic treatment without consulting your managing physician. The test result should not replace clinical judgement.
Exclusion Criteria & Emergency Red Flags
- Active febrile illness or systemic infection contraindicating elective venipuncture.
- Known severe bleeding diathesis (e.g., haemophilia A/B) without prior haematologist clearance.
- Infants with significant cardiorespiratory instability requiring continuous monitoring – home collection is not appropriate.
- If the child develops cyanosis, respiratory distress, or unresponsiveness during the collection process, terminate immediately and call 998 (UAE ambulance).
- Any visible infection at the venipuncture site (cellulitis, abscess).
Patient FAQ & Clinical Guidance
1. What is the purpose of the PITX1 gene clubfoot test?
The test identifies pathogenic variants in the PITX1 gene that cause congenital talipes equinovarus (clubfoot). A positive result confirms the genetic basis of isolated clubfoot and provides accurate recurrence risk counselling (autosomal dominant with reduced penetrance). It also guides decisions regarding serial casting, bracing, or surgical intervention when combined with clinical findings.
2. How is the sample collected for this test?
We deploy DHA‑licensed phlebotomists to your residence between 8 AM and 11 PM for VIP Mobile Phlebotomy. Acceptable samples include 2‑3 mL of whole blood in EDTA tube, 1 µg of extracted genomic DNA, or a single drop of blood dried on an FTA card. The sample is transported in a temperature‑controlled (2‑8 °C) chain‑of‑custody kit to our ISO‑certified laboratory within 2 hours of collection to guarantee DNA integrity.
3. What is the turnaround time and how will I receive my results?
Results are typically available within 3 to 4 weeks after sample receipt. Following NGS library preparation, sequencing, and bioinformatic analysis (aligned against GRCh38), a board‑certified molecular geneticist interprets the variants. The final report includes genetic nomenclature, zygosity, ClinVar classification, and therapeutic implications. A telephonic consultation with a clinical geneticist is scheduled to explain the findings.
UAE Regulatory & Data Privacy Adherence
Compliance Framework
- DHA Facility License Number: 1143
- Physical Address: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE
- All genetic data is processed in accordance 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, ensuring patient consent and confidentiality.
- For minors, testing fully complies with the Federal Decree‑Law No. 4 of 2016 on Medical Liability requiring parental/guardian approval and genetic counselling.
- Data privacy is reinforced by anonymisation of samples before analysis; reports are shared exclusively with the ordering physician and authorised guardians.
- Laboratory operations are certified to ISO 9001:2015, guaranteeing standardised workflows and traceable quality control.
Clinical & Logistical Metadata
| Test Name | PITX1 Gene Clubfoot Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole blood (EDTA), extracted DNA, or dried blood spot (FTA card) |
| Methodology Used | Next-Generation Sequencing (Illumina®) with CNV confirmation by MLPA |
| ICD-10-CM Code | Q66.0, Q66.89, Z15.89 |
| LOINC Code | 92917-4 |
| DHA Facility License & Laboratory Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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