Test Price
2,800 AED✅ Home Collection Available
PTH Gene Hypoparathyroidism Genetic Test in UAE | 2800 AED | DNA Labs UAE
Executive Summary & Core Metrics
This advanced NGS-based genetic test delivers comprehensive sequencing of the entire PTH gene to identify pathogenic variants linked to hypoparathyroidism. Processed in our ISO 9001:2015 certified laboratory (Cert: INT/EGQ/2509DA/3139) under DHA-licensed supervision at DNA Labs UAE, results are returned within 3–4 weeks with 99.9% diagnostic sensitivity. The service includes hospital-grade cold-chain VIP Mobile Phlebotomy home collection (8 AM – 11 PM daily), mandatory pre-test genetic counselling, and post-test telephonic clinical guidance to support informed healthcare decisions.
Test Overview & Methodology
The PTH Gene Hypoparathyroidism Genetic Test is a comprehensive single-gene sequencing assay that examines the entire coding region of the parathyroid hormone (PTH) gene for pathogenic mutations, deletions, and insertions associated with hereditary and idiopathic hypoparathyroidism. Utilizing Next Generation Sequencing (NGS), the test identifies both known and novel variants, enabling definitive molecular diagnosis for patients presenting with persistently low parathyroid hormone levels, unexplained hypocalcemia, or a family history suggestive of inherited parathyroid disorders.
| Parameter | Our NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Diagnostic Precision | 99.9% Sensitivity | Full Gene Coverage | ~95% Sensitivity | Targeted Exon Analysis Only |
| Methodology | NGS (Next Generation Sequencing) – LC-MS/MS Validated | Capillary Electrophoresis Sanger Sequencing |
| Variant Detection | SNVs, Indels, CNVs & Novel Variants | Known Point Mutations & Small Indels Only |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Regulatory Compliance | UAE PDPL, Federal Law No. 2 of 2019, DHA Licensed | Variable | May Lack UAE-Specific Certifications |
Physician Insight & Safety Protocols
Clinical Perspective — Lina Osama Zaki Quteineh (DHA: 9294403), Consultant Medical Genetics: "Comprehensive NGS sequencing of the PTH gene offers definitive molecular confirmation for hereditary hypoparathyroidism when correlated with biochemical profiles including serum calcium, phosphate, and intact PTH levels. Pre-test genetic counselling is essential to construct a three-generation pedigree and discuss implications for at-risk relatives. A negative result does not exclude autoimmune or secondary causes, and all patients should maintain prescribed therapy under specialist supervision while awaiting molecular results."
MEDICATION SAFETY NOTICE
Do not discontinue prescribed calcium supplements, vitamin D analogues (calcitriol/alfacalcidol), or recombinant PTH therapy without consulting your treating physician. Abrupt cessation of these medications can precipitate life-threatening hypocalcemic tetany, seizures, or cardiac arrhythmia. This genetic test is a diagnostic adjunct and does not replace ongoing clinical management.
Patient Safety: Exclusion Criteria & Emergency Red Flags
Exclusion Criteria for Sample Collection
- Severe bleeding diathesis or therapeutic anticoagulation with INR > 3.0 (relative contraindication — requires clinical clearance)
- Inability to provide informed consent due to cognitive impairment without legal guardian authorization
- Minors under 18 years: Mandatory parental or legal guardian consent as per Federal Decree-Law No. 4 of 2016 on Medical Liability
- Active severe hypocalcemia (corrected serum calcium < 1.9 mmol/L) — stabilize clinically before elective genetic testing
- Known hypersensitivity to latex or antiseptic agents used in phlebotomy (alternative materials available upon request)
Emergency Red Flags — Seek Immediate Medical Attention
- Tetany: Involuntary muscle cramps, carpopedal spasm, or Chvostek/Trousseau sign positivity
- Laryngospasm: Sudden difficulty breathing, stridor, or voice changes
- Cardiac Symptoms: Palpitations, prolonged QTc interval on ECG, or syncope
- Seizures: New-onset generalized or focal seizures unresponsive to standard anticonvulsants
- Altered Mental Status: Confusion, disorientation, or hallucinations associated with severe hypocalcemia
Patient FAQ & Clinical Guidance
1. What is the PTH Gene Hypoparathyroidism Genetic Test and how does it work?
This advanced genetic test analyzes the entire PTH gene using Next Generation Sequencing to examine all coding exons, intron-exon boundaries, and regulatory regions of the parathyroid hormone gene located on chromosome 11p15. DNA is extracted from your blood sample, enriched for target regions, and sequenced at high depth to identify single nucleotide variants (SNVs), small insertions/deletions (indels), and copy number variations (CNVs). Results are interpreted by clinical geneticists against established pathogenic variant databases, providing a definitive molecular diagnosis for hereditary hypoparathyroidism.
2. Who should consider undergoing this PTH genetic test?
Individuals with persistent unexplained low calcium, undetectable or inappropriately normal PTH levels, family history of parathyroid disorders, or suspected genetic hypoparathyroidism syndromes should consider this test. This includes neonates and children with early-onset hypocalcemic seizures (with parental consent per Federal Decree-Law No. 4 of 2016), adults diagnosed with idiopathic hypoparathyroidism after excluding autoimmune causes, and asymptomatic family members of confirmed PTH mutation carriers seeking predictive genetic screening. Endocrinologists, general physicians, and clinical geneticists may also recommend this test as part of a broader endocrine disorder workup.
3. How is the sample collected, what are the requirements, and when will I receive my results?
A certified phlebotomist collects a standard whole blood sample during a scheduled home visit between 8 AM and 11 PM daily through our VIP Mobile Phlebotomy service. Pre-test requirements include a mandatory genetic counselling session to document your clinical history and construct a detailed family pedigree chart identifying relatives affected by PTH gene hypoparathyroidism. Fasting is not required. Samples are transported under ISO-certified cold-chain protocols to our laboratory. Results are delivered within 3 to 4 weeks via secure electronic report, with an optional telephonic consultation for result interpretation.
UAE Regulatory & Data Privacy Adherence
Patient Support & Insurance Verification: WhatsApp +971 54 548 8731 | Available Daily 8 AM – 11 PM
Reviewed by Lina Osama Zaki Quteineh (DHA: 9294403) | DNA Labs UAE
Clinical & Logistical Metadata
| Test Name | PTH Gene Hypoparathyroidism Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (Peripheral Venous) — VIP Mobile Phlebotomy Home Collection Available |
| Methodology Used | Next Generation Sequencing (NGS) – Full Gene Coverage |
| ICD-10-CM Code | E20.0, E20.8, Z13.228 |
| LOINC Code | 94474-6 |
| DHA Facility License & Laboratory Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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