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Test Price

2,800 AED

โœ… Home Collection Available

TPMT Genotyping by NGS โ€“ Thiopurine Methyltransferase Deficiency Screening in UAE | 2800 AED

Executive Summary & Core Metrics

Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 certified NGS processing (Cert: INT/EGQ/2509DA/3139).

Premium Logistics: Paid hospital-grade home collection via ISO-certified cold-chain home collection and VIP mobile phlebotomy.

Clinical Guidance: Complimentary telephonic post-test clinical result interpretation by our DHA-licensed genetics experts.

Insurance: Direct billing verification via WhatsApp +971 54 548 8731.

Thiopurine methyltransferase genotyping by next-generation sequencing provides comprehensive pharmacogenetic assessment before initiating thiopurine therapies. This assay identifies all clinically relevant TPMT gene variants enabling precise dose individualization and prevention of life-threatening myelosuppression. The test is fully compliant with Dubai Health Authority standards and UAE federal data protection regulations.

Test Overview & Methodology

Clinical Application

TPMT genotyping is indicated for patients requiring thiopurine medications including azathioprine, 6-mercaptopurine, and thioguanine. Common clinical scenarios include organ transplantation, inflammatory bowel disease, autoimmune hepatitis, rheumatologic conditions, and childhood acute lymphoblastic leukemia. The NGS methodology interrogates the full TPMT gene sequence including promoter regions and all exons detecting both common variants (TPMT*2, TPMT*3A, TPMT*3C) and rare or novel mutations that allele-specific approaches miss.

Feature NGS TPMT Genotyping (Our Test) Targeted Mutation Analysis (Alternative)
Detection Rate >99% of clinically significant variants Approximately 80% (3โ€“4 common mutations only)
Methodology Next Generation Sequencing โ€“ full gene sequencing PCR-based allele-specific genotyping
Turnaround Time 3โ€“4 weeks 1โ€“2 weeks
Sample Flexibility Whole blood, extracted DNA, or FTA card blood spot Whole blood only

Physician Insight & Safety Protocols

Specialist Commentary

"TPMT genotyping by NGS represents the gold standard for pharmacogenetic safety evaluation prior to thiopurine therapy. The comprehensive coverage of all known variants allows precise risk stratification enabling tailored dosing from the first prescription. Clinicians must interpret results alongside complete blood counts and hepatic function tests throughout treatment. This test transforms a previously unpredictable drug safety profile into a manageable personalised medicine paradigm."

โ€” Ms. Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Medication Safety Advisory

Important Medication Warning

Do not discontinue or adjust prescribed thiopurine medications without explicit guidance from your treating physician. TPMT genotyping provides baseline pharmacogenetic guidance but does not replace ongoing clinical monitoring including periodic blood counts and therapeutic drug level measurements. Always consult your healthcare provider before making any medication changes.

Exclusion Criteria & Red Flags

Safety Alert โ€“ Patient Selection & Referral Guidance

  • Exclusion Criteria: This test is not intended for emergency diagnostic evaluation of acute drug toxicity. It does not replace NUDT15 genotyping when clinically indicated for individuals of East Asian ancestry.
  • Sample Rejection: Hemolyzed whole blood specimens or severely degraded DNA may be rejected requiring recollection. Minimum DNA concentration of 10 ng/ยตL is required for reliable NGS results.
  • Immediate Medical Attention Required: Patients experiencing unexplained fever, persistent sore throat, oral ulcerations, unusual bruising or bleeding, or pallor while receiving thiopurine therapy require urgent medical evaluation for potential severe myelosuppression.

Patient FAQ & Clinical Guidance

1. What is TPMT genotyping and why is it essential before taking azathioprine?

TPMT genotyping identifies inherited variations in the TPMT gene that directly control how your body metabolises thiopurine drugs including azathioprine. Approximately one in 300 individuals inherits complete TPMT deficiency placing them at near-certain risk of life-threatening bone marrow suppression with standard doses. This NGS panel detects all clinically actionable variants enabling your doctor to prescribe a radically reduced dose or select an alternative therapy entirely.

2. How long does the TPMT genetic test result take at DNA Labs UAE?

The final report is issued within three to four weeks from sample receipt. Our laboratory uses next-generation sequencing technology to ensure comprehensive coverage of all relevant TPMT gene mutations. You can track your sample status anytime via WhatsApp at +971 54 548 8731.

3. Can I provide a simple blood spot on an FTA card for TPMT genotyping and how is home collection arranged?

Yes we accept one drop of blood on a Whatman FTA card in addition to whole blood or extracted DNA samples. Our DHA-licensed phlebotomist visits your preferred location between 8 AM and 11 PM daily. The blood spot or venous sample is immediately stabilised and transported under temperature-controlled cold-chain conditions to our ISO-certified laboratory for processing.

4. What does the test result mean for my medication dose?

Results classify your TPMT enzyme activity phenotype into three categories: normal (wild-type), intermediate (heterozygous), or deficient (homozygous variant). Patients with intermediate activity typically require 30โ€“50% dose reduction while deficient patients may need 90% reduction or complete avoidance of standard thiopurine therapy. Your physician will integrate these findings with your full clinical profile to determine the safest starting dose.

UAE Regulatory & Data Privacy Adherence

Federal Compliance & Data Protection Framework

This diagnostic service operates under strict adherence to Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) ensuring all genetic information is collected, processed, and stored with the highest confidentiality standards. Additionally, Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields governs the secure electronic health data infrastructure supporting our laboratory information system. Clinical safety and patient consent protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability which mandates informed consent prior to genetic testing and clear communication of result implications.

DNA Labs UAE maintains full compliance with DHA licensing requirements and ISO 9001:2015 quality management certification (Certificate No: INT/EGQ/2509DA/3139). All genetic data is encrypted and access-restricted to authorised clinical personnel only.

Clinical & Logistical Metadata

Test Name TPMT Genotyping by Next Generation Sequencing for Thiopurine Methyltransferase Deficiency
Price (AED) 2800
Turnaround Time 3โ€“4 weeks
Sample Type / Matrix Whole blood (EDTA), extracted DNA, or dried blood spot on FTA card. VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM.
Methodology Used Next Generation Sequencing (NGS) โ€“ full gene sequencing including promoter region and all coding exons
ICD-10-CM Code Z13.89 โ€“ Encounter for screening for other disorder; Z13.0 โ€“ Encounter for screening for upper gastrointestinal disorder (if IBD indication); Z01.818 โ€“ Encounter for preprocedural laboratory examination (if pre-transplant)
LOINC Code 92806-3 โ€“ TPMT gene mutations detected in Blood or Tissue by Molecular genetics method
DHA Facility License & Laboratory Address Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE โ€“ Corporate Lab Branding

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