Single Gene Disorders tests in Dubai & UAE

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

Tests in this category

133

Listed price range

2,800.00–4,000.00 AED

Clinical preparation

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Single Gene Disorders test prices

Showing 121–133 of 133 matching tests.

Single Gene Disorders diagnostic tests, details, and listed prices
Test and description	Specimen	Typical duration	Price	Options
TEST-4577 TMEM138 Gene Joubert Syndrome Type 16 Genetic Test This test evaluates the TMEM138 gene for pathogenic variants associated with Joubert syndrome type 16.	Peripheral whole blood (EDTA) or dried blood spot (DBS)	3–4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["TMEM138 gene sequence", "Deletion/duplication analysis of TMEM138"] Parameters [] Preparation ["No special preparation required"] Indications ["Suspected Joubert syndrome type 16 based on clinical and imaging findings", "Family history of Joubert syndrome type 16"] Measurement technique Confirm with laboratory Codes LOINC: 81409-1 ICD-10: Q04.3 Clinical summary This test evaluates the TMEM138 gene for pathogenic variants associated with Joubert syndrome type 16.
TEST-4686 TNFRSF11A Gene Sequencing for Autosomal Recessive Osteopetrosis Type 7 (NGS) Test This test evaluates the TNFRSF11A gene for mutations associated with autosomal recessive osteopetrosis type 7.	Whole blood (EDTA) or FTA card	3–4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["TNFRSF11A gene sequence", "Single-nucleotide variants", "Small insertions and deletions", "Copy-number variants"] Parameters [] Preparation [] Indications ["Clinical suspicion of osteopetrosis type 7", "Family history of osteopetrosis", "Genetic counselling for at-risk relatives", "Reproductive planning"] Measurement technique Confirm with laboratory Codes LOINC: 81322-7 ICD-10: Q78.2 Clinical summary This test evaluates the TNFRSF11A gene for mutations associated with autosomal recessive osteopetrosis type 7.
TEST-3739 TREX1 Gene Aicardi-Goutières Syndrome Type 1 Genetic Test This test evaluates the TREX1 gene for pathogenic variants associated with Aicardi-Goutières syndrome type 1.	Peripheral Whole Blood (EDTA) or Extracted DNA	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 TREX1 gene", "Single nucleotide variants", "Small insertions/deletions", "Copy number changes"] Parameters [] Preparation ["Do not discontinue prescribed therapy without consulting your physician", "A formal genetic counselling session is required"] Indications ["Clinical suspicion of Aicardi-Goutières syndrome type 1", "Family history of Aicardi-Goutières syndrome"] Measurement technique Confirm with laboratory Codes LOINC: 21636-6 ICD-10: G04.81 Clinical summary This test evaluates the TREX1 gene for pathogenic variants associated with Aicardi-Goutières syndrome type 1.
TEST-5454 TRIP11 Gene Achondrogenesis Type 1A Genetic Test (NGS) This test identifies pathogenic variants in the TRIP11 gene associated with Achondrogenesis Type 1A.	Peripheral whole blood, extracted DNA, or FTA card blood spot	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 TRIP11 gene", "Single nucleotide variants (SNVs)", "Small insertions/deletions (indels)", "Copy number variants (CNVs)"] Parameters [] Preparation ["No specific patient preparation required"] Indications ["Confirmation of clinical suspicion of Achondrogenesis Type 1A", "Prenatal diagnosis when family history or ultrasound findings are suggestive"] Measurement technique Confirm with laboratory Codes LOINC: 51966-0 ICD-10: Q77.1 Clinical summary This test identifies pathogenic variants in the TRIP11 gene associated with Achondrogenesis Type 1A.
TEST-6257 TRMT5 Gene Test This test identifies pathogenic variants in the TRMT5 gene associated with Combined Oxidative Phosphorylation Deficiency Type 26 (COXPD26).	Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (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 TRMT5 gene", "Single nucleotide variants", "Small insertions/deletions"] Parameters [] Preparation ["No specific fasting required", "Do not discontinue prescribed therapy without consultation"] Indications ["Suspected Combined Oxidative Phosphorylation Deficiency Type 26 (COXPD26)", "Individuals with clinical features suggestive of mitochondrial disorders"] Measurement technique Confirm with laboratory Codes LOINC: 55233-1 ICD-10: E74.81 Clinical summary This test identifies pathogenic variants in the TRMT5 gene associated with Combined Oxidative Phosphorylation Deficiency Type 26 (COXPD26).
TEST-3488 TYR Gene Genetic Test for Oculocutaneous Albinism Type 1A This genetic test identifies pathogenic variants within the TYR gene associated with oculocutaneous albinism type 1A.	Whole Blood, Extracted DNA, or One-drop Blood on 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 TYR gene", "Single-nucleotide variants", "Small insertions/deletions", "Copy number changes"] Parameters [] Preparation ["No specific fasting required", "Inform phlebotomy team if on anticoagulants (e.g., warfarin, clopidogrel)"] Indications ["Suspected diagnosis of oculocutaneous albinism type 1A", "Family history of albinism", "Need for definitive genetic diagnosis for family planning"] Measurement technique Confirm with laboratory Codes LOINC: 48004-8 ICD-10: E70.30 Clinical summary This genetic test identifies pathogenic variants within the TYR gene associated with oculocutaneous albinism type 1A.
TEST-3515 UBE3B Gene Blepharophimosis-Ptosis-Intellectual Disability Syndrome Genetic Test This test identifies pathogenic variants within the UBE3B gene associated with Blepharophimosis-Ptosis-Intellectual Disability syndrome (BPID). It uses Next Generation Sequencing (...	Peripheral whole blood (EDTA), FTA card, or extracted DNA	3–4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Single nucleotide variants (SNVs)", "Small insertions/deletions (indels)", "Copy number variations (CNVs)"] Parameters [{"name": "UBE3B Gene Coverage", "reference_range": "100% coverage"}, {"name": "Mean Depth of Coverage", "reference_range": ">200x"}] Preparation ["No specific fasting required.", "No medication or diet restrictions."] Indications ["Suspected Blepharophimosis-Ptosis-Intellectual Disability syndrome (BPID)", "Congenital eye malformations with developmental delay"] Measurement technique Confirm with laboratory Codes LOINC: 92807-8 ICD-10: Q87.89, Q10.3 Clinical summary This test identifies pathogenic variants within the UBE3B gene associated with Blepharophimosis-Ptosis-Intellectual Disability syndrome (BPID). It uses Next Generation Sequencing (NGS) to analyze the gene's coding regions and flanking introns.
TEST-5068 USP9X Gene Mental Retardation, X-linked Type 99 Genetic Test This test identifies genetic variants in the USP9X gene associated with X-linked mental retardation type 99.	Peripheral whole blood	3–4 weeks from sample receipt	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Single-nucleotide variants (SNVs)", "Small insertions/deletions (indels)", "Copy-number variants (CNVs) in the USP9X gene"] Parameters [] Preparation ["No fasting required"] Indications ["Confirmation of genetic aetiology in patients with unexplained intellectual disability", "Personalised care", "Accurate recurrence risk assessment", "Informed family planning"] Measurement technique Confirm with laboratory Codes LOINC: 55233-1 ICD-10: F78 Clinical summary This test identifies genetic variants in the USP9X gene associated with X-linked mental retardation type 99.
TEST-3160 WAS Gene (X‑Linked Intermittent Thrombocytopenia) Genetic Test This test evaluates the entire WAS gene for pathogenic variants associated with X‑linked intermittent thrombocytopenia (XLT). It identifies single nucleotide variants, insertions/d...	Peripheral Whole Blood	3–4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["WAS gene pathogenic variants", "Single nucleotide variants (SNVs)", "Insertions/deletions (indels)", "Exonic rearrangements", "Copy number variations (CNV)"] Parameters [] Preparation ["No specific fasting required", "Inform lab of recent blood transfusions"] Indications ["Suspected X‑linked intermittent thrombocytopenia", "Family history of XLT", "Need for carrier testing", "Genetic counselling for family members"] Measurement technique Confirm with laboratory Codes LOINC: 103204-5 ICD-10: D69.4 Clinical summary This test evaluates the entire WAS gene for pathogenic variants associated with X‑linked intermittent thrombocytopenia (XLT). It identifies single nucleotide variants, insertions/deletions, and copy number variations.
TEST-4885 WDR81 Gene Analysis (CAMRQ2 Syndrome) Test This test detects pathogenic variants in the WDR81 gene associated with CAMRQ2 syndrome.	Whole Blood EDTA, Extracted DNA ≥ 1 µg, or FTA Card	21–28 Days (3–4 Weeks)	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in WDR81 gene", "SNVs", "Indels", "Copy number variants (CNVs)", "Novel pathogenic variants"] Parameters [] Preparation ["No fasting required", "No medication discontinuation unless directed by physician"] Indications ["Symptomatic individuals requiring molecular confirmation", "Asymptomatic siblings for carrier screening", "Couples with a known family history seeking preconception genetic counselling"] Measurement technique Confirm with laboratory Codes LOINC: 81264-8 ICD-10: G11.1 Clinical summary This test detects pathogenic variants in the WDR81 gene associated with CAMRQ2 syndrome.
TEST-2283 WNT10B Gene Split-Hand/Foot Malformation Type 6 Genetic Test This test analyzes the WNT10B gene for mutations associated with split-hand/foot malformation type 6 (SHFM6). It helps confirm a diagnosis and assess genetic risk.	Whole Blood or DNA FTA Card	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 WNT10B gene", "Single Nucleotide Variants (SNVs)", "Insertions/Deletions (Indels)", "Copy Number Variations (CNVs)"] Parameters [] Preparation ["No specific fasting required", "Inform lab of recent transfusions or transplants"] Indications ["Suspected diagnosis of split-hand/foot malformation type 6 (SHFM6)", "Family history of SHFM6", "Genetic counseling for recurrence risk assessment"] Measurement technique Confirm with laboratory Codes LOINC: 51966-0 ICD-10: Q71.6 Clinical summary This test analyzes the WNT10B gene for mutations associated with split-hand/foot malformation type 6 (SHFM6). It helps confirm a diagnosis and assess genetic risk.
TEST-4859 XK Gene (McLeod Syndrome with or without Chronic Granulomatous Disease) Genetic Test This test evaluates the entire XK gene for pathogenic variants associated with McLeod syndrome and potentially Chronic Granulomatous Disease (CGD). It utilizes Next-Generation Sequ...	Peripheral Whole Blood (EDTA), 3–5 mL	3–4 Weeks (Expedited available)	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the XK gene", "Deletion/duplication analysis of the XK gene"] Parameters [] Preparation ["No fasting or special preparation is needed."] Indications ["Suspected McLeod syndrome", "Suspected Chronic Granulomatous Disease (CGD)", "Unexplained neurological symptoms consistent with neuroacanthocytosis"] Measurement technique Confirm with laboratory Codes LOINC: 21649-0 ICD-10: G24.8, E75.6 Clinical summary This test evaluates the entire XK gene for pathogenic variants associated with McLeod syndrome and potentially Chronic Granulomatous Disease (CGD). It utilizes Next-Generation Sequencing (NGS) with deletion/duplication analysis.
TEST-5055 ZNF674 Gene Mental Retardation, X-Linked Type 92 Genetic Test This test identifies pathogenic variants in the ZNF674 gene associated with X-linked intellectual disability type 92.	Whole Blood (peripheral venous or capillary FTA card)	3–4 weeks from sample receipt	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["ZNF674 gene sequence", "Single-nucleotide variants", "Small insertions and deletions", "Copy number variants"] Parameters [] Preparation ["No specific fasting required", "Inform lab of any recent blood transfusions"] Indications ["Suspected X-linked intellectual disability type 92", "Family history of X-linked intellectual disability", "Genetic counselling for developmental delay"] Measurement technique Confirm with laboratory Codes LOINC: 86246-4 ICD-10: F79, Q99.8, Z14.8 Clinical summary This test identifies pathogenic variants in the ZNF674 gene associated with X-linked intellectual disability type 92.

Category overview

Single Gene Disorders: overview

Understanding your family's risk for specific hereditary conditions empowers you to make proactive, highly informed health and reproductive decisions. As a core pillar of our advanced Genetics department, comprehensive testing for Single Gene Disorders evaluates your DNA for a curated selection of mutations known to cause distinct monogenic conditions. Utilizing state-of-the-art sequencing technology, this empowering molecular screening provides the critical clarity needed to assess carrier status, safely guiding informed family planning, IVF decisions, and specialized reproductive counseling. Widely respected for compassionate family planning among top diagnostic labs in the UAE, DNA Labs ensures absolute patient confidentiality, uncompromising analytical accuracy, and rapid, dependable reporting. Safeguard your family’s future—schedule your single gene disorders testing in UAE, arrange a comfortable clinic or home sample collection, or connect with our dedicated reproductive specialists.

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