Joubert Syndrome tests in Dubai & UAE

Compare available Joubert Syndrome tests, their listed prices and the information provided for each option. Test selection and preparation should be discussed with your clinician.

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Listed price range

2,800.00 AED

Clinical preparation

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Joubert Syndrome test prices

Showing 1–2 of 2 matching tests.

Joubert Syndrome diagnostic tests, details, and listed prices
Test and description	Specimen	Typical duration	Price	Options
TEST-4595 NPHP1 Gene (Joubert Syndrome Type 4) Genetic Test This test evaluates the NPHP1 gene for pathogenic variants associated with Joubert Syndrome Type 4 and nephronophthisis.	Peripheral Whole Blood (5-10 mL) or Extracted Genomic DNA	3 to 4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["NPHP1 gene sequence", "Pathogenic variants in NPHP1"] Parameters [] Preparation ["Do not discontinue prescribed medications without consulting your physician."] Indications ["Suspected Joubert Syndrome Type 4", "Suspected nephronophthisis", "Family history of NPHP1-related disorders"] Measurement technique Confirm with laboratory Codes LOINC: 81265-9 ICD-10: Q04.3, Q61.9 Clinical summary This test evaluates the NPHP1 gene for pathogenic variants associated with Joubert Syndrome Type 4 and nephronophthisis.
TEST-4591 TCTN2 Gene Joubert Syndrome Type 24 Genetic Test This test identifies pathogenic variants within the TCTN2 gene, which are causative for Joubert syndrome type 24.	Peripheral whole blood (3–5 mL in EDTA tube)	3–4 weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the TCTN2 gene", "Full gene coverage including intronic regions"] Parameters [] Preparation ["No specific fasting required", "Do not discontinue prescribed medication"] Indications ["Clinical suspicion of Joubert syndrome type 24", "Family history of Joubert syndrome"] Measurement technique Confirm with laboratory Codes LOINC: 101391-0 ICD-10: Q04.3 Clinical summary This test identifies pathogenic variants within the TCTN2 gene, which are causative for Joubert syndrome type 24.

Category overview

Joubert Syndrome: overview

Confronting low muscle tone, abnormal breathing patterns, or the distinct "molar tooth sign" on a brain MRI requires specialized diagnostic insight to guide a child's developmental journey. Representing a rare-disease specialty in our Genetics department, Joubert Syndrome testing evaluates your DNA for inherited mutations in genes associated with primary cilia function, such as AHI1 or CEP290. By leveraging state-of-the-art sequencing technology, this precise molecular screening helps confirm this complex neurological disorder, offering the definitive data necessary to safely guide proactive respiratory monitoring, tailored pediatric neurology, and specialized physical therapies. Trusted for sensitive pediatric diagnostics across premier diagnostic labs in Dubai and the UAE, DNA Labs ensures strict patient confidentiality, exceptional analytical precision, and prompt, reliable reporting. Empower your child’s customized care—schedule your Joubert syndrome testing in UAE, coordinate a comfortable clinical sample collection, or reach out to our dedicated medical team.

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Use the test details as a conversation starter

The right diagnostic option depends on your reason for testing and individual circumstances. Check the listed specimen and timing, then confirm any preparation requirements with the ordering clinician or laboratory before collection.