Test Price
2,800 AEDโ Home Collection Available
PCK1 Gene Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic Genetic Test in UAE | 2800 AED | DHA Licensed Genetic Diagnostics
Executive Summary & Core Metrics
- Diagnostic Precision: 99.9% sensitivity for single nucleotide variants, indels, and copy number variations via ISO 9001:2015 accredited NGS workflow (Cert: INT/EGQ/2509DA/3139).
- Home Collection Available: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection daily from 8 AM to 11 PM for standard whole blood, extracted DNA, or dried blood spot samples.
- Post-Test Consultation: Complimentary telephonic result interpretation led by a DHA-licensed Consultant Medical Genetics specialist.
- Insurance Billing: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing test screens the entire coding sequence of the PCK1 gene for pathogenic variants associated with cytosolic phosphoenolpyruvate carboxykinase deficiency, a rare autosomal recessive disorder of gluconeogenesis. It delivers a definitive molecular diagnosis for metabolic acidosis-prone patients, enabling precise lifetime management and family counselling.
| Feature | Our Test (DHA-Adherent NGS) | Closest Alternative (Biochemical / PCR) |
|---|---|---|
| Methodology | Full-gene Next-Generation Sequencing (NGS) with CNV analysis | Targeted PCR + Sanger confirmation, no CNV detection |
| Diagnostic Yield | 99.9% for SNVs, indels, and intragenic deletions/duplications | ~90%, limited to known hotspots; misses deep intronic variants |
| Turnaround Time | 3 โ 4 Weeks (ISO cold-chain, from receipt) | 4 โ 6 Weeks (fragmented logistics) |
| Sample Types | Whole Blood, Extracted DNA, Dried Blood Spot (FTA Card) | Whole Blood only |
| Price (AED) | 2800 | 2700 โ 3100 (variable) |
Physician Insight & Safety Protocols
โAs a DHA-licensed Consultant Medical Genetics specialist (Registration ID: 9294403), I confirm that a positive PCK1 result must be correlated with fasting glucose, lactate, and acid-base profiles. The genetic finding guides targeted dietary intervention to prevent hypoketotic hypoglycemia, yet ongoing clinical monitoring remains indispensable for patient safety.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, Dubai
Medication Advisory & Clinical Precautions
Do Not Adjust Medication Independently
Genetic results may indicate the need for dietary or therapeutic adjustments, but these must only be made under the supervision of a qualified physician. Never discontinue or modify prescribed treatments without consulting your doctor.
Exclusion Criteria & Emergency Red Flags
- Severe needle phobia or acute illness requiring urgent medical attention โ reschedule home collection.
- If the patient develops sudden lethargy, vomiting, rapid breathing, or seizures after sample collection, seek immediate emergency care (call 998).
- This test is not intended for asymptomatic minors without a documented family history, in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability concerning genetic testing consent and patient safety.
- Do not use in place of newborn screening; biochemical confirmation (plasma amino acids, urine organic acids) should be performed concomitantly.
Patient FAQ & Clinical Guidance
1. What is the PCK1 gene test and why is it needed?
This next-generation sequencing test comprehensively analyzes the PCK1 gene to confirm or rule out cytosolic phosphoenolpyruvate carboxykinase deficiency, a rare inherited disorder causing dangerous hypoketotic hypoglycemia. The molecular diagnosis is essential for lifetime dietary management and informed family planning.
2. How accurate is the NGS test for PCK1 deficiency?
With 99.9% diagnostic sensitivity, our ISO-certified NGS method provides precise detection of single nucleotide variants, small insertions/deletions, and copy number variations in the PCK1 gene, meeting DHAโs stringent analytic validation standards.
3. What samples are accepted and how fast do I get results?
We accept whole blood (2โ4 mL EDTA), extracted DNA, or a dried blood spot on an FTA card. Turnaround time is 3 to 4 weeks from sample receipt, supported by our hospital-grade cold-chain logistics.
4. Is home collection available for this genetic test?
Yes, VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection is available daily from 8 AM to 11 PM for standard whole blood, extracted DNA, or dried blood spot specimens. No hospital visit required for these sample types.
UAE Regulatory & Data Privacy Adherence
Data Protection: All genetic data is processed 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. Patient consent and clinical safety protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Laboratory Accreditation: ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139) with DHA Facility License No. 1143.
Patient Support: WhatsApp +971 54 548 8731 | Home Collection Hours: 8 AM โ 11 PM daily.
Clinical & Logistical Metadata
| Test Name | PCK1 Gene Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic Genetic Test |
| Price (AED) | 2800 |
| Turnaround Time | 3 โ 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, Dried Blood Spot (FTA Card) |
| Methodology Used | NextโGeneration Sequencing (NGS) with CNV Analysis |
| ICD-10-CM Code | E74.89 |
| LOINC Code | 55233-1 |
| DHA Facility License & Laboratory Address | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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