Genetic Disease tests in Dubai & UAE

Compare available Genetic Disease 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

2,800.00–4,000.00 AED

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Genetic Disease test prices

Showing 1–15 of 23 matching tests.

Genetic Disease diagnostic tests, details, and listed prices
Test and description	Specimen	Typical duration	Price	Options
TEST-5917 ALAS2 Gene Erythropoietic Protoporphyria, X‑Linked Genetic Test This genetic test identifies gain-of-function mutations in the ALAS2 gene, confirming a diagnosis of X-linked erythropoietic protoporphyria (XLP).	Peripheral Whole Blood	3–4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["ALAS2 gene mutations", "Gain-of-function variants"] Parameters [] Preparation ["No specific fasting required", "Inform lab of any medications"] Indications ["Suspected X-linked erythropoietic protoporphyria (XLP)", "Family history of XLP", "Severe photosensitivity unresponsive to standard treatment"] Measurement technique Confirm with laboratory Codes LOINC: 21672-8 ICD-10: E80.0 Clinical summary This genetic test identifies gain-of-function mutations in the ALAS2 gene, confirming a diagnosis of X-linked erythropoietic protoporphyria (XLP).
TEST-4003 BMPR2 Gene Test This test identifies pathogenic variants in the BMPR2 gene associated with heritable pulmonary arterial hypertension (HPAH).	Peripheral whole blood, 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 BMPR2 gene", "DNA sequence coverage of coding, intronic, and regulatory regions"] Parameters [] Preparation ["A formal genetic counselling session is mandatory before sample collection.", "A three-generation pedigree must be completed before sample collection."] Indications ["Diagnosis of heritable pulmonary arterial hypertension (HPAH)", "Family risk assessment for HPAH", "Cascade testing in at-risk relatives"] Measurement technique Confirm with laboratory Codes LOINC: 21643-5 ICD-10: I27.0 Clinical summary This test identifies pathogenic variants in the BMPR2 gene associated with heritable pulmonary arterial hypertension (HPAH).
TEST-4654 CEP41 Gene Joubert Syndrome Type 15 Genetic Test This test identifies pathogenic variants in the CEP41 gene associated with Joubert syndrome type 15.	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 ["Pathogenic variants in the CEP41 gene"] Parameters [] Preparation ["No special preparation required", "Pre-test genetic counselling recommended"] Indications ["Symptomatic patients suspected of Joubert syndrome type 15", "At-risk families", "Researchers"] Measurement technique Confirm with laboratory Codes LOINC: 81315-1 ICD-10: Q04.3 Clinical summary This test identifies pathogenic variants in the CEP41 gene associated with Joubert syndrome type 15.
TEST-3781 CFB Gene Hemolytic Uremic Syndrome (aHUS) Genetic Test This test identifies pathogenic variants within the CFB gene, a key factor in the development of atypical Hemolytic Uremic Syndrome (aHUS). It provides a definitive molecular diagn...	Whole Blood (EDTA) or Extracted DNA	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 CFB gene", "Complement Factor B gene sequence"] Parameters [] Preparation ["No specific fasting required", "Inform lab of any recent blood transfusions (within 4 weeks)"] Indications ["Patients with unexplained TMA", "Patients with suspected atypical HUS", "Patients with a family history of aHUS", "Differential diagnosis from other TMAs (STEC-HUS, TTP)"] Measurement technique Confirm with laboratory Codes LOINC: 101078-3 ICD-10: D59.3 Clinical summary This test identifies pathogenic variants within the CFB gene, a key factor in the development of atypical Hemolytic Uremic Syndrome (aHUS). It provides a definitive molecular diagnosis for guiding treatment and risk assessment.
TEST-2684 CHD7 Gene Analysis for Kallmann Syndrome Type 5 (Genetic Test) This test evaluates the CHD7 gene for mutations associated with Kallmann syndrome type 5, a condition characterized by impaired sense of smell and delayed or absent puberty.	Blood, FTA card, extracted DNA	3–4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["CHD7 gene sequence", "Copy Number Variants (CNVs) in CHD7 gene"] Parameters [] Preparation [] Indications ["Suspected Kallmann syndrome type 5", "Evaluation of hypogonadotropic hypogonadism with anosmia", "Genetic counseling for families with Kallmann syndrome"] Measurement technique Confirm with laboratory Codes LOINC: 81247-9 ICD-10: E23.0 Clinical summary This test evaluates the CHD7 gene for mutations associated with Kallmann syndrome type 5, a condition characterized by impaired sense of smell and delayed or absent puberty.
TEST-4771 CHRNA1 Gene Analysis for Multiple Pterygium Syndrome (Lethal Type) Test This test identifies pathogenic variants in the CHRNA1 gene associated with lethal multiple pterygium syndrome.	Peripheral whole blood (EDTA), extracted genomic DNA, or dried blood spot (FTA card)	3–4 weeks (expedited available for prenatal cases)	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the CHRNA1 gene", "Copy Number Variants (CNVs) in the CHRNA1 gene"] Parameters [] Preparation [] Indications ["Suspected diagnosis of lethal multiple pterygium syndrome (LMPS)", "Family history of LMPS", "Prenatal diagnosis in high-risk pregnancies"] Measurement technique Confirm with laboratory Codes LOINC: 81265-5 ICD-10: Q79.8 Clinical summary This test identifies pathogenic variants in the CHRNA1 gene associated with lethal multiple pterygium syndrome.
TEST-4734 COL1A2 Gene Osteogenesis Imperfecta Genetic Test This test evaluates the COL1A2 gene for pathogenic variants associated with Osteogenesis Imperfecta.	Whole blood (EDTA), extracted DNA (≥50 ng/µL), 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 in COL1A2", "Small insertions and deletions in COL1A2", "Splice-site mutations in COL1A2"] Parameters [{"name": "Read Depth", "reference_range": ">200x across all coding exons and flanking intronic regions"}] Preparation ["No fasting required", "Inform phlebotomist of anticoagulant use"] Indications ["Clinical suspicion of Osteogenesis Imperfecta", "Family history of Osteogenesis Imperfecta", "Prenatal diagnosis", "Carrier screening"] Measurement technique Confirm with laboratory Codes LOINC: 21661-4 ICD-10: Q78.0 Clinical summary This test evaluates the COL1A2 gene for pathogenic variants associated with Osteogenesis Imperfecta.
TEST-1673 Cystic Fibrosis CFTR Full Gene Sequence Analysis Test This test analyzes the entire CFTR gene to identify mutations associated with cystic fibrosis.	Peripheral whole blood (EDTA) or Amniotic fluid	4 – 6 weeks from sample receipt	4,000.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["CFTR gene sequence", "Point mutations", "Small insertions/deletions", "Copy number variations"] Parameters [] Preparation ["No fasting required", "Valid physician prescription mandatory"] Indications ["Confirming cystic fibrosis diagnosis", "Carrier screening", "Prenatal genetic assessment", "Guiding targeted therapy decisions"] Measurement technique Confirm with laboratory Codes LOINC: 94219-8 ICD-10: E84.9 Clinical summary This test analyzes the entire CFTR gene to identify mutations associated with cystic fibrosis.
TEST-5279 EFEMP2 Gene Cutis Laxa Type 1B (Autosomal Recessive) Genetic Test This test identifies disease-causing mutations in the EFEMP2 gene associated with autosomal recessive cutis laxa type 1B.	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 EFEMP2 gene", "Full coding sequence and splice sites"] Parameters [] Preparation [] Indications ["Suspected diagnosis of autosomal recessive cutis laxa type 1B", "Family history of cutis laxa"] Measurement technique Confirm with laboratory Codes LOINC: 21665-7 ICD-10: Q82.8 Clinical summary This test identifies disease-causing mutations in the EFEMP2 gene associated with autosomal recessive cutis laxa type 1B.
TEST-6269 FANCC Gene Fanconi Anemia Type C Genetic Test This test evaluates the entire FANCC gene for mutations associated with Fanconi anemia type C.	Whole blood (1–3 mL), 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 ["FANCC gene sequence", "Point mutations", "Insertions/Deletions", "Splice-site variants"] Parameters [] Preparation ["No specific fasting required.", "Do not discontinue prescribed medication without explicit instruction from your treating physician."] Indications ["Suspected Fanconi anemia type C", "Family history of Fanconi anemia", "Hematologic abnormalities suggestive of bone marrow failure"] Measurement technique Confirm with laboratory Codes LOINC: 94574-1 ICD-10: D61.09 Clinical summary This test evaluates the entire FANCC gene for mutations associated with Fanconi anemia type C.
TEST-5863 FKRP Gene (Walker-Warburg Syndrome & Muscle-Eye-Brain Disease) Genetic Test This test analyzes the FKRP gene for mutations associated with Walker-Warburg syndrome and Muscle-Eye-Brain disease.	Whole Blood (EDTA), DNA FTA Card, Extracted DNA	3–4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["FKRP gene coding region mutations", "Pathogenic variants"] Parameters [] Preparation [] Indications ["Suspected Walker-Warburg syndrome", "Suspected Muscle-Eye-Brain disease", "Congenital muscular dystrophy with brain/ocular malformations"] Measurement technique Confirm with laboratory Codes LOINC: 21636-6 ICD-10: G71.0 Clinical summary This test analyzes the FKRP gene for mutations associated with Walker-Warburg syndrome and Muscle-Eye-Brain disease.
TEST-6347 GYG1 Gene Glycogen Storage Disease Type 15 (GSD15) Genetic Test This test identifies pathogenic variants in the GYG1 gene associated with Glycogen Storage Disease Type 15 (GSD15). It screens for single nucleotide variants, indels, and copy numb...	Blood, dried blood spot (FTA card), 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 GYG1 gene", "Single nucleotide variants (SNVs)", "Small insertions/deletions (indels)", "Copy number variations (CNVs)"] Parameters [] Preparation ["No specific fasting required.", "Avoid strenuous exercise before sample collection."] Indications ["Suspected Glycogen Storage Disease Type 15 (GSD15)", "Family history of GSD15", "Evaluation of unexplained muscle or cardiac symptoms"] Measurement technique Confirm with laboratory Codes LOINC: 78013-9 ICD-10: E74.09 Clinical summary This test identifies pathogenic variants in the GYG1 gene associated with Glycogen Storage Disease Type 15 (GSD15). It screens for single nucleotide variants, indels, and copy number variations.
TEST-2872 LRP2 Gene Donnai-Barrow Syndrome Genetic Test This genetic test evaluates the LRP2 gene for pathogenic variants associated with Donnai-Barrow syndrome (FOAR syndrome).	Whole Blood, FTA Card Blood Spot, 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 LRP2 gene", "Single nucleotide variants (SNVs)", "Insertions and deletions (indels)"] Parameters [] Preparation ["No specific fasting required", "No medication or diet restrictions"] Indications ["Clinical suspicion of Donnai-Barrow syndrome (FOAR syndrome)", "Family history of Donnai-Barrow syndrome", "Genetic counseling for individuals with suggestive clinical features"] Measurement technique Confirm with laboratory Codes LOINC: 81247-9 ICD-10: Q87.8 Clinical summary This genetic test evaluates the LRP2 gene for pathogenic variants associated with Donnai-Barrow syndrome (FOAR syndrome).
TEST-4043 MTHFR Gene Mutation & Homocystinuria Genetic Test This test evaluates the MTHFR gene for mutations associated with homocystinuria and increased risk of thrombotic events.	Whole Blood, 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 ["MTHFR gene sequence", "Single nucleotide variants (SNVs)", "Insertions and deletions (Indels)"] Parameters [] Preparation ["No specific fasting required", "Inform lab of current medications"] Indications ["Assessment of thrombotic risk", "Evaluation for homocystinuria", "Family history of MTHFR-related disorders"] Measurement technique Confirm with laboratory Codes LOINC: 21636-6 ICD-10: E72.11 Clinical summary This test evaluates the MTHFR gene for mutations associated with homocystinuria and increased risk of thrombotic events.
TEST-4065 NOTCH3 Gene (CADASIL) Genetic Test This test evaluates the NOTCH3 gene for mutations associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL).	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 ["NOTCH3 gene variants", "Single-nucleotide variants", "Indels", "Copy-number changes"] Parameters [] Preparation [] Indications ["Symptomatic individuals with migraine with aura", "Recurrent stroke", "Cognitive decline", "Family history of CADASIL"] Measurement technique Confirm with laboratory Codes LOINC: 59089-2 ICD-10: I67.850 Clinical summary This test evaluates the NOTCH3 gene for mutations associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL).

Category overview

Genetic Disease: overview

Confronting the possibility of a hereditary illness requires highly precise diagnostics to unlock the right specialized care for you or your family. Within our elite Genetics services, testing for Genetic Disease focuses on identifying the specific DNA mutations responsible for inherited monogenic, metabolic, or syndromic disorders. Utilizing cutting-edge diagnostic technology, this vital molecular screening establishes a definitive diagnosis, providing the critical data necessary to safely guide life-changing medical management and specialized therapeutic care. Trusted for sensitive genetic diagnostics across the top diagnostic labs in the UAE, DNA Labs guarantees absolute patient confidentiality, unparalleled diagnostic accuracy, and highly efficient turnaround times. Secure the critical diagnostic insights your family deserves—schedule your genetic disease testing in UAE, coordinate a secure sample collection, or reach out to our dedicated medical genetics experts.

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