TCTN2 Gene Joubert Syndrome Type 24 Genetic Test in UAE | 2800 AED | DHA Licensed

Executive Summary & Core Metrics

Executive Summary:

This advanced genetic test using Next-Generation Sequencing (NGS) accurately detects pathogenic variants in the TCTN2 gene associated with Joubert syndrome type 24, with 99.9% diagnostic sensitivity in an ISO-accredited laboratory. The service includes VIP Mobile Phlebotomy & temperature-controlled cold-chain home collection, comprehensive genetic counseling, and direct insurance verification via WhatsApp. Telephonic post-test clinical guidance supports result interpretation.

Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8 AM – 11 PM).
Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

This Next-Generation Sequencing (NGS) test screens the TCTN2 gene for pathogenic variants causing Joubert syndrome type 24, a rare ciliopathy with neurological manifestations. The test provides full gene coverage, including intronic regions, and detects both known and novel variants.

Feature	Our Test (DNA Labs UAE)	Closest Alternative (Regional Lab)
Precision	NGS with 99.9% sensitivity	Sanger sequencing (limited to known hotspots)
Methodology	Illumina NovaSeq – full gene coverage	Capillary sequencing
Turnaround Time	3–4 weeks	6–8 weeks

Physician Insight & Safety Protocols

"As a consultant medical geneticist, I recommend this test for families with clinical suspicion of Joubert syndrome type 24. A positive result should be correlated with neurological and radiological findings, including the molar tooth sign on MRI. Genetic counseling is essential to discuss recurrence risks and implications for family planning."

– Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Medication Warning

Do not discontinue prescribed medication without consulting your doctor. Genetic test results do not replace ongoing neurological management.

Safety Exclusion Criteria & ER Red Flags

Patients with acute respiratory distress or uncontrolled seizures should not delay emergency care for genetic testing.
If you experience sudden worsening of balance, vision loss, or breathing difficulties, seek immediate medical attention.
This test requires a clinical referral from a neurologist or geneticist; self-referral is not advised for symptomatic minors under UAE Federal Decree-Law No. 4 of 2016 on Medical Liability.

Patient FAQ & Clinical Guidance

1. What does a positive TCTN2 result mean for my child’s development?

A positive result confirms a diagnosis of Joubert syndrome type 24, guiding early intervention strategies such as physical, occupational, and speech therapy to maximize developmental potential.

2. How is home sample collection performed safely for infants?

A trained pediatric phlebotomist visits your home with a cold-chain kit, collecting a small blood volume via heel prick or venipuncture under aseptic conditions; the sample is transported at 2–8°C to our ISO lab.

3. Does the test require parental consent in the UAE?

Yes, under 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, written consent from both parents or legal guardians is mandatory for genetic testing of minors.

UAE Regulatory & Data Privacy Adherence

Compliant with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – your genetic data is encrypted and accessible only to authorized clinicians.
Adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – secure electronic health records and telemedicine support.
DHA-licensed facility (License No. 1143) operating under Dubai Healthcare City regulations.

Clinical & Logistical Metadata

Test Name	TCTN2 Gene Sequencing for Joubert Syndrome Type 24
Price (AED)	2,800
Turnaround Time	3–4 weeks
Sample Type / Matrix	Peripheral whole blood (3–5 mL in EDTA tube) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM–11 PM
Methodology Used	Next-Generation Sequencing (NGS) on Illumina NovaSeq 6000
ICD-10-CM Code	Q04.3
LOINC Code	101391-0
DHA Facility License & Laboratory Address	License No. 1143 \| Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE