Single Gene Disorder tests in Dubai & UAE

Compare available Single Gene Disorder 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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2,800.00 AED

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Single Gene Disorder test prices

Showing 46–60 of 72 matching tests.

Single Gene Disorder diagnostic tests, details, and listed prices
Test and description	Specimen	Typical duration	Price	Options
TEST-6159 MARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 25 (COXPD25) Genetic Test This genetic test identifies pathogenic variants in the MARS2 gene associated with Combined Oxidative Phosphorylation Deficiency Type 25 (COXPD25).	Whole blood (EDTA or FTA card), or extracted DNA	3–4 Weeks (average 18 working days)	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the MARS2 gene", "Single nucleotide variants", "Small insertions/deletions", "Splice-site mutations"] Parameters [] Preparation ["Pre-test genetic counselling with pedigree chart required"] Indications ["Suspected mitochondrial disease", "Family history warranting carrier screening"] Measurement technique Confirm with laboratory Codes LOINC: 82304-5 ICD-10: E88.4 Clinical summary This genetic test identifies pathogenic variants in the MARS2 gene associated with Combined Oxidative Phosphorylation Deficiency Type 25 (COXPD25).
TEST-5366 MYH8 Gene Arthrogryposis, Distal, Type 7 Genetic Test This diagnostic test evaluates the MYH8 gene for pathogenic variants associated with distal arthrogryposis type 7.	Whole Blood or FTA Card Sample	3 to 4 weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the MYH8 gene", "Single Nucleotide Variants (SNVs)", "Insertions/Deletions (Indels)", "Copy Number Variants (CNVs)"] Parameters [] Preparation ["No specific fasting required", "Inform phlebotomist of any medications"] Indications ["Suspected distal arthrogryposis type 7", "Family history of MYH8-related disorders", "Genetic counseling for family planning"] Measurement technique Confirm with laboratory Codes LOINC: 91890-3 ICD-10: Q74.3 Clinical summary This diagnostic test evaluates the MYH8 gene for pathogenic variants associated with distal arthrogryposis type 7.
TEST-5078 NEXMIF Gene Genetic Test (X-linked Intellectual Disability, Non-Syndromic) This genetic test detects pathogenic variants in the NEXMIF gene associated with X-linked non-syndromic intellectual disability.	Peripheral whole blood (3–5 ml in EDTA tube) or FTA card	3–4 weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["NEXMIF gene pathogenic variants", "SNVs", "Indels", "Exon-level CNVs"] Parameters [{"name": "Diagnostic Sensitivity", "reference_range": ">99.9% for covered alterations"}] Preparation ["No fasting needed", "No need to withhold food or adjust current medications", "Pre-test genetic counselling session required"] Indications ["Diagnosis of X-linked non-syndromic intellectual disability", "Carrier testing in female relatives", "Prenatal counselling"] Measurement technique Confirm with laboratory Codes LOINC: 94051-0 ICD-10: F70.9 Clinical summary This genetic test detects pathogenic variants in the NEXMIF gene associated with X-linked non-syndromic intellectual disability.
TEST-3055 NOD2 Gene Blau Syndrome Genetic Test This genetic test evaluates the NOD2 gene for pathogenic variants associated with Blau syndrome.	Whole blood (EDTA), extracted DNA, or FTA card	3–4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["NOD2 gene sequence", "Copy number variants in NOD2 gene"] Parameters [] Preparation ["No fasting required", "Inform phlebotomist about recent blood transfusions"] Indications ["Suspected Blau syndrome", "Early-onset granulomatous arthritis", "Uveitis", "Dermatitis"] Measurement technique Confirm with laboratory Codes LOINC: 77774-9 ICD-10: M04.8 Clinical summary This genetic test evaluates the NOD2 gene for pathogenic variants associated with Blau syndrome.
TEST-3066 PLCB4 Gene Auriculocondylar Syndrome Type 2 Genetic Test This test identifies pathogenic variants in the PLCB4 gene to confirm a diagnosis of Auriculocondylar syndrome type 2.	Peripheral whole blood (EDTA), 2–5 mL; alternative: extracted DNA (≥1 μg) or buccal swab (with prior approval)	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 PLCB4 gene"] Parameters [] Preparation [] Indications ["Clinical suspicion of Auriculocondylar syndrome type 2 (ARCND2)"] Measurement technique Confirm with laboratory Codes LOINC: 81347-8 ICD-10: Q87.0, Q16.0, Q18.8 Clinical summary This test identifies pathogenic variants in the PLCB4 gene to confirm a diagnosis of Auriculocondylar syndrome type 2.
TEST-5560 PQBP1 Gene (Renpenning Syndrome) Next‑Generation Sequencing DNA Test This test identifies pathogenic variants within the coding region of the PQBP1 gene associated with Renpenning syndrome.	Peripheral whole blood (EDTA)	3–4 weeks from sample receipt	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the PQBP1 gene"] Parameters [] Preparation [] Indications ["Individuals with clinical features suggestive of Renpenning syndrome", "Carrier testing in at-risk female relatives"] Measurement technique Confirm with laboratory Codes LOINC: 103150-1 ICD-10: Q87.8 Clinical summary This test identifies pathogenic variants within the coding region of the PQBP1 gene associated with Renpenning syndrome.
TEST-3841 PRPS1 Gene (Arts Syndrome) Genetic Test This genetic test analyzes the PRPS1 gene for mutations associated with Arts syndrome, an X-linked neurological disorder.	Peripheral whole blood	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 PRPS1 gene", "Full coding region coverage (all exons ±10 bp intronic boundaries)"] Parameters [] Preparation ["No specific fasting required.", "Inform the lab of any current medications."] Indications ["Suspected Arts syndrome based on clinical presentation", "Family history of X-linked neurological disorders"] Measurement technique Confirm with laboratory Codes LOINC: 88552-8 ICD-10: Q87.8 Clinical summary This genetic test analyzes the PRPS1 gene for mutations associated with Arts syndrome, an X-linked neurological disorder.
TEST-2191 RAB3GAP1 Gene Genetic Test for Warburg Micro Syndrome Type 1 This test identifies pathogenic variants in the RAB3GAP1 gene, confirming a diagnosis of Warburg micro syndrome type 1.	Peripheral whole blood	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 RAB3GAP1 gene"] Parameters [] Preparation [] Indications ["Clinical suspicion of Warburg micro syndrome type 1", "Confirmation of diagnosis"] Measurement technique Confirm with laboratory Codes LOINC: 81317-7 ICD-10: Q87.8 Clinical summary This test identifies pathogenic variants in the RAB3GAP1 gene, confirming a diagnosis of Warburg micro syndrome type 1.
TEST-3511 RBM8A Gene Thrombocytopenia‑Absent Radius Syndrome Genetic Test This test detects pathogenic variants in the RBM8A gene to confirm Thrombocytopenia‑Absent Radius syndrome.	Peripheral Whole Blood or FTA Card	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 RBM8A gene"] Parameters [] Preparation ["Genetic counseling is mandatory before sample collection", "A three-generation pedigree chart of affected family members is highly recommended"] Indications ["Confirmation of TAR syndrome diagnosis", "Familial risk assessment", "Reproductive planning"] Measurement technique Confirm with laboratory Codes LOINC: 21636-6 ICD-10: Q87.2 Clinical summary This test detects pathogenic variants in the RBM8A gene to confirm Thrombocytopenia‑Absent Radius syndrome.
TEST-2816 SATB2 Gene (Glass Syndrome) Genetic Test This test evaluates the SATB2 gene for mutations associated with Glass syndrome.	Whole Blood (3-5 mL K2-EDTA), Extracted DNA, or Dried Blood Spot (FTA Card)	3 to 4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["SATB2 gene mutations", "Single Nucleotide Variants (SNVs)", "Insertions/Deletions (Indels)", "Copy Number Variants (CNVs)"] Parameters [] Preparation [] Indications ["Clinical suspicion of Glass syndrome", "Neurodevelopmental disorder with features consistent with SATB2-associated syndrome"] Measurement technique Confirm with laboratory Codes LOINC: 28446-7 ICD-10: Q87.89 Clinical summary This test evaluates the SATB2 gene for mutations associated with Glass syndrome.
TEST-2217 SCARF2 Gene Van den Ende-Gupta Syndrome Genetic Test This test detects pathogenic variants in the SCARF2 gene associated with Van den Ende-Gupta syndrome.	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 SCARF2 gene"] Parameters [] Preparation [] Indications ["Suspected Van den Ende-Gupta syndrome", "Family history of Van den Ende-Gupta syndrome"] Measurement technique Confirm with laboratory Codes LOINC: 95149-3 ICD-10: Q87.8 Clinical summary This test detects pathogenic variants in the SCARF2 gene associated with Van den Ende-Gupta syndrome.
TEST-1933 SDHC Gene Pheochromocytoma Type 3 Genetic Test This test identifies germline mutations in the SDHC gene associated with hereditary paraganglioma‑pheochromocytoma syndrome type 3.	Peripheral whole blood (3–5 mL in EDTA tube) or saliva collection kit	3–4 weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["SDHC gene coding sequence", "Germline mutations"] Parameters [] Preparation ["No specific fasting required", "Do not discontinue prescribed medications without consulting your physician"] Indications ["Oncology patients with early-onset or bilateral pheochromocytoma", "Individuals with a strong family history", "Researchers enrolling in genetic studies"] Measurement technique Confirm with laboratory Codes LOINC: 78059-5 ICD-10: D44.1 Clinical summary This test identifies germline mutations in the SDHC gene associated with hereditary paraganglioma‑pheochromocytoma syndrome type 3.
TEST-6115 SLC25A13 Gene Citrin Deficiency Genetic Test This genetic test identifies pathogenic variants in the SLC25A13 gene, confirming citrin deficiency.	Peripheral whole blood (3–5 mL in EDTA tube) or FTA card	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 SLC25A13 gene", "Presence of mutations causing citrin deficiency"] Parameters [] Preparation ["Attend a free genetic counselling session", "Bring a detailed three-generation family health history", "Schedule home collection"] Indications ["Diagnosis of citrin deficiency (citrullinemia type II, NICCD)", "Family planning for individuals with a family history of citrin deficiency", "Evaluation of unexplained liver disease or hyperammonaemia"] Measurement technique Confirm with laboratory Codes LOINC: 98514-5 ICD-10: E72.23, E72.0, Z13.8 Clinical summary This genetic test identifies pathogenic variants in the SLC25A13 gene, confirming citrin deficiency.
TEST-5538 SLC2A1 Gene Paroxysmal Exercise‑Induced Dyskinesia with Epilepsy and/or Hemolytic Anemia Genetic Test This test evaluates the SLC2A1 gene for pathogenic variants associated with Glucose Transporter Type 1 Deficiency Syndrome (GLUT1-DS).	Peripheral Whole Blood	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 SLC2A1 gene", "Copy Number Variants (CNVs) in SLC2A1"] Parameters [] Preparation ["No fasting required", "Ensure skin is clean and free of lotions"] Indications ["Suspected Glucose Transporter Type 1 Deficiency Syndrome (GLUT1-DS)", "Paroxysmal exercise-induced dyskinesia", "Epilepsy with specific features", "Hemolytic anemia with neurological symptoms"] Measurement technique Confirm with laboratory Codes LOINC: 21641-9 ICD-10: E74.8 Clinical summary This test evaluates the SLC2A1 gene for pathogenic variants associated with Glucose Transporter Type 1 Deficiency Syndrome (GLUT1-DS).
TEST-3733 SLC2A9 Gene Hypouricemia, Renal Type 2 Genetic Test This genetic test identifies mutations in the SLC2A9 gene associated with renal hypouricemia type 2.	Whole Blood (EDTA / Lithium Heparin), Extracted DNA, or FTA Card	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 SLC2A9 gene", "Single nucleotide variants", "Insertions", "Deletions", "Splice-site aberrations"] Parameters [] Preparation ["No fasting required", "Inform clinical team of all medications and supplements"] Indications ["Diagnosis of renal hypouricemia type 2", "Identification of individuals at risk for exercise-induced acute kidney injury", "Family counselling for inherited kidney disorders"] Measurement technique Confirm with laboratory Codes LOINC: 82126-0 ICD-10: E79.8 Clinical summary This genetic test identifies mutations in the SLC2A9 gene associated with renal hypouricemia type 2.

Category overview

Single Gene Disorder: overview

Finding the exact biological cause of a suspected genetic condition brings empowering clarity and a clear path to targeted relief and long-term management. Representing an advanced subspecialty in our Molecular Genetics department, Single Gene Disorder testing utilizes cutting-edge diagnostic technology to pinpoint the exact inherited mutation responsible for a specific clinical presentation. By analyzing the targeted gene with extreme precision, this essential screening provides your healthcare provider with the definitive data needed to safely guide personalized medical oversight, genetic counseling, and proactive family planning. Consistently trusted by specialists across diagnostic labs in Dubai and the UAE, DNA Labs guarantees absolute patient confidentiality, exceptional analytical accuracy, and remarkably fast turnaround times. Take control of your diagnostic journey—book your single gene disorder testing in UAE, coordinate a seamless home sample collection, or consult our specialized genetics team today.

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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.