Genetic Disorders tests in Dubai & UAE

Compare available Genetic 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

136

Listed price range

1,100.00–4,800.00 AED

Clinical preparation

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Genetic Disorders test prices

Showing 31–45 of 136 matching tests.

Genetic Disorders diagnostic tests, details, and listed prices
Test and description	Specimen	Typical duration	Price	Options
TEST-5210 COL5A2 Gene Classical Ehlers-Danlos Syndrome (cEDS) NGS Test This test evaluates the COL5A2 gene for pathogenic variants associated with classical Ehlers-Danlos syndrome.	Whole blood (EDTA), extracted DNA, or dried blood spot on FTA card	21–28 working days	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["COL5A2 gene sequence", "Single nucleotide variants", "Small insertions", "Small deletions"] Parameters [] Preparation ["No special preparation or fasting is required."] Indications ["Clinical suspicion of classical Ehlers-Danlos syndrome", "Family history of cEDS"] Measurement technique Confirm with laboratory Codes LOINC: 94219-3 ICD-10: Q79.6 Clinical summary This test evaluates the COL5A2 gene for pathogenic variants associated with classical Ehlers-Danlos syndrome.
TEST-5141 COL7A1 Gene Dystrophic Epidermolysis Bullosa (DEB) Genetic Test This genetic test evaluates the COL7A1 gene for pathogenic variants associated with Dystrophic Epidermolysis Bullosa (DEB).	Peripheral blood, extracted DNA, or dried blood spot	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 COL7A1 gene", "Type VII collagen gene mutations"] Parameters [] Preparation ["Inform healthcare provider about medications", "No specific fasting required"] Indications ["Suspected diagnosis of Dystrophic Epidermolysis Bullosa (DEB)", "Family history of DEB", "Genetic counselling for affected families"] Measurement technique Confirm with laboratory Codes LOINC: 21638-7 ICD-10: Q81.2 Clinical summary This genetic test evaluates the COL7A1 gene for pathogenic variants associated with Dystrophic Epidermolysis Bullosa (DEB).
TEST-3271 COX4I2 Gene Dyserythropoietic Anemia Genetic Test This test identifies pathogenic variants in the COX4I2 gene associated with congenital dyserythropoietic anemia type IV.	Whole Blood (Peripheral Venipuncture)	21–28 calendar days	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the COX4I2 gene", "Single nucleotide variants", "Small insertions/deletions", "Copy number variations"] Parameters [] Preparation ["No fasting or special preparation is required"] Indications ["Suspected congenital dyserythropoietic anemia type IV (CDA IV)", "Family history suggestive of inherited bone marrow failure syndrome"] Measurement technique Confirm with laboratory Codes LOINC: 21663-1 ICD-10: D64.4 Clinical summary This test identifies pathogenic variants in the COX4I2 gene associated with congenital dyserythropoietic anemia type IV.
TEST-4154 CR1 Gene CR1 Deficiency Genetic Test This test evaluates the CR1 gene for pathogenic variants associated with complement deficiency disorders and related neurological conditions.	Peripheral blood (EDTA 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 CR1 gene", "Single nucleotide variants (SNVs)", "Small insertions/deletions (indels)", "Copy number variations (CNVs)"] Parameters [] Preparation [] Indications ["Suspected complement deficiency", "Evaluation of unexplained neurological symptoms", "Family history of complement deficiency disorders"] Measurement technique Confirm with laboratory Codes LOINC: 81339-1 ICD-10: D84.1 Clinical summary This test evaluates the CR1 gene for pathogenic variants associated with complement deficiency disorders and related neurological conditions.
TEST-2384 CREBBP Gene Rubinstein‑Taybi Syndrome Genetic Test This genetic test analyzes the CREBBP gene to identify mutations associated with Rubinstein‑Taybi syndrome.	Peripheral Whole Blood (EDTA)	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 CREBBP gene"] Parameters [] Preparation ["No specific fasting required", "Inform lab of recent blood transfusions"] Indications ["Clinical suspicion of Rubinstein‑Taybi syndrome", "Confirmation of diagnosis", "Genetic counseling"] Measurement technique Confirm with laboratory Codes LOINC: 81268-8 ICD-10: Q87.2, Z15.09, Z31.438 Clinical summary This genetic test analyzes the CREBBP gene to identify mutations associated with Rubinstein‑Taybi syndrome.
TEST-5036 CTSC Gene Haim-Munk Syndrome (Papillon-Lefèvre Spectrum) Genetic Test This genetic test identifies pathogenic mutations in the CTSC gene associated with Haim-Munk syndrome and Papillon-Lefèvre spectrum disorders.	Blood (EDTA), Extracted DNA, or One Drop Blood on FTA Card	3 to 4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Single nucleotide variants (SNVs)", "Indels", "Copy number variations (CNVs) in CTSC gene coding exons"] Parameters [] Preparation ["Completion of a detailed clinical history form", "Pre-test genetic counseling session", "Disclosure of current retinoid, immunosuppressant, or anti-inflammatory biologic use"] Indications ["Suspected Haim-Munk syndrome", "Suspected Papillon-Lefèvre syndrome", "Differential diagnosis of palmoplantar keratoderma with severe periodontitis", "Pre-surgical risk stratification for bone loss"] Measurement technique Confirm with laboratory Codes LOINC: 54257-1 ICD-10: Q82.8 Clinical summary This genetic test identifies pathogenic mutations in the CTSC gene associated with Haim-Munk syndrome and Papillon-Lefèvre spectrum disorders.
TEST-5897 DCXR Gene Pentosuria Genetic Test This test identifies genetic variants in the DCXR gene associated with essential pentosuria.	Peripheral Whole Blood	15–18 Business Days	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the DCXR gene", "Full gene coverage", "CNV detection"] Parameters [] Preparation ["Provide detailed clinical history", "Provide symptom diary", "Pre-test genetic counselling session"] Indications ["Diagnosis of essential pentosuria", "Pre-conception genetic counselling", "Family history of carbohydrate metabolism disorders"] Measurement technique Confirm with laboratory Codes LOINC: 55233-1 ICD-10: E74.8 Clinical summary This test identifies genetic variants in the DCXR gene associated with essential pentosuria.
TEST-6117 DDC Gene (Aromatic L-Amino Acid Decarboxylase Deficiency, AADC) Next‑Generation Sequencing (NGS) Genetic Test This genetic test evaluates the DDC gene for variants associated with Aromatic L-Amino Acid Decarboxylase deficiency (AADC), a severe neurometabolic disorder.	Peripheral whole blood (EDTA), saliva, or FTA card (extracted DNA accepted)	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 DDC gene", "Single nucleotide variants (SNVs)", "Insertions/deletions (indels)", "Copy number variations (CNVs)"] Parameters [] Preparation ["No fasting required", "Complete pre-genetic counselling session with pedigree charting", "Continue all regular medications unless advised otherwise by a specialist", "Inform phlebotomist of bleeding disorders or recent blood transfusions"] Indications ["Suspected AADC deficiency based on clinical presentation", "Confirmation of clinical diagnosis", "Carrier screening in families with a history of AADC deficiency", "Prenatal diagnosis"] Measurement technique Confirm with laboratory Codes LOINC: 94477-3 ICD-10: E70.81 Clinical summary This genetic test evaluates the DDC gene for variants associated with Aromatic L-Amino Acid Decarboxylase deficiency (AADC), a severe neurometabolic disorder.
TEST-2460 DDX59 Gene Orofaciodigital Syndrome Type 5 Genetic Test This diagnostic test evaluates the DDX59 gene for pathogenic variants associated with Orofaciodigital Syndrome Type 5 (OFD5).	Whole blood (EDTA) or FTA card finger-prick; also accepts extracted genomic DNA	3–4 weeks (21–28 calendar days)	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["DDX59 gene sequence", "Pathogenic variants in DDX59"] Parameters [] Preparation [] Indications ["Suspected Orofaciodigital Syndrome Type 5", "Family history of OFD5", "Genetic counselling for related conditions"] Measurement technique Confirm with laboratory Codes LOINC: 94223-5 ICD-10: Q87.0, Q87.8 Clinical summary This diagnostic test evaluates the DDX59 gene for pathogenic variants associated with Orofaciodigital Syndrome Type 5 (OFD5).
TEST-2295 DHCR7 Gene (Smith‑Lemli‑Opitz Syndrome) Genetic Test This test identifies pathogenic variants in the DHCR7 gene, confirming a diagnosis of Smith‑Lemli‑Opitz syndrome.	Whole Blood (EDTA) or Dried Blood Spot	3–4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["DHCR7 gene variants", "Single-nucleotide variants", "Small insertions/deletions", "Copy-number variants"] Parameters [] Preparation ["Pre-test genetic counseling required", "Informed consent required"] Indications ["Diagnostic confirmation in symptomatic individuals", "Carrier screening in at-risk families", "Prenatal or preimplantation genetic testing"] Measurement technique Confirm with laboratory Codes LOINC: 21636-6 ICD-10: E78.72 Clinical summary This test identifies pathogenic variants in the DHCR7 gene, confirming a diagnosis of Smith‑Lemli‑Opitz syndrome.
TEST-5485 DNAH11 Gene Primary Ciliary Dyskinesia Type 7 Genetic Test This genetic test detects pathogenic variants in the DNAH11 gene, which are responsible for Primary Ciliary Dyskinesia type 7.	Peripheral Whole Blood	3 – 4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["DNAH11 gene variants", "Pathogenic mutations"] Parameters [] Preparation ["No specific fasting required", "Inform phlebotomist of any medications"] Indications ["Suspected Primary Ciliary Dyskinesia", "Family history of PCD", "Chronic respiratory infections unresponsive to standard treatment"] Measurement technique Confirm with laboratory Codes LOINC: 21636-6 ICD-10: Q34.8 Clinical summary This genetic test detects pathogenic variants in the DNAH11 gene, which are responsible for Primary Ciliary Dyskinesia type 7.
TEST-6305 DPAGT1 Gene Glycosylation Disorder Type 1J Genetic Test This test sequences the DPAGT1 gene to identify pathogenic variants associated with Congenital Disorder of Glycosylation Type 1J (CDG-1J).	Whole blood (EDTA), dried blood spot (FTA card), 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 ["DPAGT1 gene sequence", "Pathogenic variants (SNVs, indels, copy-number variants)"] Parameters [] Preparation ["No fasting required.", "Mandatory pre-test genetic counselling session."] Indications ["Confirm CDG‑1J diagnosis", "Cascade family screening", "Guide reproductive options", "Integrate genetic findings with biochemical phenotype", "Correlate DPAGT1 variants with neurological manifestations"] Measurement technique Confirm with laboratory Codes LOINC: 81309-8 ICD-10: E77.8 Clinical summary This test sequences the DPAGT1 gene to identify pathogenic variants associated with Congenital Disorder of Glycosylation Type 1J (CDG-1J).
TEST-6367 DPM1 Gene Congenital Disorder of Glycosylation Type Ie (CDG‑Ie) Genetic Test This test evaluates the DPM1 gene for mutations associated with Congenital Disorder of Glycosylation Type Ie (CDG‑Ie).	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 ["DPM1 gene sequence", "Pathogenic variants in DPM1"] Parameters [] Preparation ["A genetic counselling session must be completed before sample collection.", "Submit a detailed clinical history including metabolic symptoms.", "No fasting required.", "Avoid hemolyzed blood samples.", "Ensure correct finger-prick technique for FTA cards."] Indications ["Infants and children presenting with unexplained hypotonia, hypoglycemia, coagulation abnormalities, and developmental delays.", "Suspected CDG‑Ie based on metabolic screening or family history."] Measurement technique Confirm with laboratory Codes LOINC: 21665-7 ICD-10: E77.8 Clinical summary This test evaluates the DPM1 gene for mutations associated with Congenital Disorder of Glycosylation Type Ie (CDG‑Ie).
TEST-5147 DSE Gene (Ehlers-Danlos Syndrome, Musculocontractural Type 2) Genetic Test This test identifies mutations in the DSE gene associated with Ehlers-Danlos Syndrome, musculocontractural type 2.	Whole Blood (EDTA), Buccal Swab, 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 ["DSE gene mutations", "Single nucleotide variants (SNVs)", "Small insertions/deletions (indels)", "Copy number variations (CNVs)"] Parameters [] Preparation ["No specific fasting required", "Inform lab of any medications"] Indications ["Suspected Ehlers-Danlos Syndrome, musculocontractural type 2", "Family history of Ehlers-Danlos Syndrome, musculocontractural type 2"] Measurement technique Confirm with laboratory Codes LOINC: 81249-1 ICD-10: Q79.6 Clinical summary This test identifies mutations in the DSE gene associated with Ehlers-Danlos Syndrome, musculocontractural type 2.
TEST-4326 EEF1A2 Gene Early Infantile Epileptic Encephalopathy Type 33 Genetic Test This test identifies pathogenic variants in the EEF1A2 gene associated with Early Infantile Epileptic Encephalopathy Type 33.	Peripheral blood (3–5 mL EDTA) or buccal swab	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 EEF1A2 gene", "Single Nucleotide Variants (SNVs)", "Insertions/Deletions (Indels)", "Copy Number Variations (CNVs)"] Parameters [] Preparation ["No fasting required"] Indications ["Diagnosis of Early Infantile Epileptic Encephalopathy Type 33 (EIEE33)", "Identification of pathogenic variants in the EEF1A2 gene"] Measurement technique Confirm with laboratory Codes LOINC: 91847-8 ICD-10: G40.4 Clinical summary This test identifies pathogenic variants in the EEF1A2 gene associated with Early Infantile Epileptic Encephalopathy Type 33.

Category overview

Genetic 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 Genetic Disorders evaluates your DNA for a curated selection of mutations known to cause distinct, multi-system hereditary conditions. Utilizing state-of-the-art sequencing technology, this empowering molecular screening provides the critical clarity needed to assess carrier status and diagnostic risks, safely guiding informed family planning, proactive medical interventions, and specialized reproductive counseling. Widely respected for compassionate diagnostic excellence among premier diagnostic labs in Dubai and the UAE, DNA Labs ensures strict patient confidentiality, uncompromising analytical accuracy, and rapid, dependable reporting. Safeguard your family’s future—book your genetic disorders testing in UAE, arrange a comfortable clinic or home sample collection, or connect with our specialized medical team.

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