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.

Tests in this category

Listed price range

2,800.00 AED

Clinical preparation

Confirm test-specific instructions with your clinician or laboratory.

Compare available tests

Single Gene Disorder test prices

Showing 1–15 of 72 matching tests.

Single Gene Disorder diagnostic tests, details, and listed prices
Test and description	Specimen	Typical duration	Price	Options
TEST-6319 ABCB4 Gene Gallbladder Disease Type 1 Genetic Test This test identifies pathogenic mutations in the ABCB4 gene associated with low phospholipid-associated cholelithiasis (LPAC) syndrome.	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 ABCB4 gene", "Single nucleotide variants (SNVs)", "Insertions and deletions (indels)"] Parameters [] Preparation ["No specific fasting required", "No medication or diet restrictions"] Indications ["Patients with recurrent gallstones of unknown etiology", "Patients with a documented family history of ABCB4-related disease", "Patients with unexplained biliary symptoms"] Measurement technique Confirm with laboratory Codes LOINC: 55233-5 ICD-10: K80.80 Clinical summary This test identifies pathogenic mutations in the ABCB4 gene associated with low phospholipid-associated cholelithiasis (LPAC) syndrome.
TEST-3008 ABCC9 Gene Cantú Syndrome Genetic Test This genetic test evaluates the ABCC9 gene for pathogenic variants associated with Cantú syndrome.	Peripheral whole blood	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 ABCC9 gene", "Single nucleotide variants", "Small insertions/deletions", "Splice-site alterations"] Parameters [] Preparation ["A pre-test genetic counselling session with a pedigree chart is mandatory.", "No fasting or medication changes are needed unless instructed by a physician."] Indications ["Suspected Cantú syndrome based on clinical presentation", "Family history of Cantú syndrome"] Measurement technique Confirm with laboratory Codes LOINC: 48004-6 ICD-10: Q87.8, Q87.0 Clinical summary This genetic test evaluates the ABCC9 gene for pathogenic variants associated with Cantú syndrome.
TEST-6056 ABHD1 Gene Lung Alpha-Beta Hydrolase Deficiency Type 1 Genetic Test This genetic test identifies pathogenic variants in the ABHD1 gene associated with lung alpha-beta hydrolase deficiency type 1.	Peripheral whole blood (4 mL EDTA)	21–28 calendar days (expedited 14-day option available)	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["ABHD1 gene coding region variants", "ABHD1 gene splice site variants"] Parameters [] Preparation ["No fasting required", "No special preparation required"] Indications ["Diagnosis of ABHD1 gene-related lung alpha-beta hydrolase deficiency type 1", "Family counselling for ABHD1-related disorders"] Measurement technique Confirm with laboratory Codes LOINC: 55233-1 ICD-10: E78.89 Clinical summary This genetic test identifies pathogenic variants in the ABHD1 gene associated with lung alpha-beta hydrolase deficiency type 1.
TEST-6189 ABHD5 Gene Chanarin-Dorfman Syndrome Genetic Test This test analyzes the ABHD5 gene to identify mutations causing Chanarin-Dorfman syndrome, a rare inherited metabolic disorder.	Peripheral Whole Blood (EDTA)	3–4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["ABHD5 gene sequence", "Point mutations", "Small insertions/deletions", "Splice-site variants"] Parameters [] Preparation ["Documented clinical history", "Mandatory genetic counselling session", "Valid informed consent"] Indications ["Suspected Chanarin-Dorfman syndrome", "Family history of Chanarin-Dorfman syndrome", "Asymptomatic siblings of confirmed cases"] Measurement technique Confirm with laboratory Codes LOINC: 81290-9 ICD-10: E75.5, Z14.8, Z13.228 Clinical summary This test analyzes the ABHD5 gene to identify mutations causing Chanarin-Dorfman syndrome, a rare inherited metabolic disorder.
TEST-5094 ADAMTSL2 Gene Geleophysic Dysplasia Type 1 Genetic Test This genetic test analyzes the ADAMTSL2 gene to identify pathogenic variants associated with Geleophysic Dysplasia 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 ADAMTSL2 gene"] Parameters [] Preparation ["No fasting required", "No medication adjustments required", "Genetic counselling session required before blood draw"] Indications ["Diagnostic confirmation of Geleophysic Dysplasia Type 1", "Familial screening for Geleophysic Dysplasia Type 1"] Measurement technique Confirm with laboratory Codes LOINC: 91854-6 ICD-10: Q87.8 Clinical summary This genetic test analyzes the ADAMTSL2 gene to identify pathogenic variants associated with Geleophysic Dysplasia Type 1.
TEST-3213 ALAS2 Gene Protoporphyria, Erythropoietic, X-linked Genetic Test This genetic test evaluates the ALAS2 gene for mutations associated with X-linked erythropoietic protoporphyria (XLEPP) and X-linked sideroblastic anemia (XLSA). It identifies path...	Whole Blood (EDTA) or DNA Sample (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 ["Pathogenic variants in the ALAS2 gene", "Coding region and splice sites of the ALAS2 gene"] Parameters [] Preparation ["No fasting required", "Mandatory pre-test genetic counseling session", "Provide complete medical and family history to the genetic counsellor"] Indications ["Suspected X-linked erythropoietic protoporphyria (XLEPP)", "Suspected X-linked sideroblastic anemia (XLSA)", "Family history of ALAS2-related disorders", "Carrier screening for at-risk relatives"] Measurement technique Confirm with laboratory Codes LOINC: 21663-2 ICD-10: E80.0, D64.0 Clinical summary This genetic test evaluates the ALAS2 gene for mutations associated with X-linked erythropoietic protoporphyria (XLEPP) and X-linked sideroblastic anemia (XLSA). It identifies pathogenic variants to confirm diagnosis and assess carrier status.
TEST-6293 ALG13 Gene Glycosylation Disorder Type 1S Genetic Test This test identifies pathogenic variants within the ALG13 gene associated with Congenital Disorder of Glycosylation Type 1S (CDG-1S).	Whole Blood (EDTA), Extracted DNA, or One‑Drop Blood on FTA Card	3 to 4 Weeks (including confirmatory analysis)	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the ALG13 gene", "Congenital Disorder of Glycosylation Type 1S (CDG-1S)"] Parameters [] Preparation ["Mandatory genetic counselling session required before sample collection", "No fasting required", "Inform lab of recent blood transfusion ( Indications ["Suspected Congenital Disorder of Glycosylation Type 1S (CDG-1S)", "Patients with clinical features suggestive of CDG-1S", "Family history of CDG-1S"] Measurement technique Confirm with laboratory Codes LOINC: 92651-7 ICD-10: E77.8 Clinical summary This test identifies pathogenic variants within the ALG13 gene associated with Congenital Disorder of Glycosylation Type 1S (CDG-1S).
TEST-6318 ALG3‑Congenital Disorder of Glycosylation Type Id (CDG‑Id) Genetic Test This test detects pathogenic variants in the ALG3 gene associated with Congenital Disorder of Glycosylation Type Id (CDG-Id).	Whole Blood (EDTA) or FTA Card Dried 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 ALG3 gene", "Single nucleotide variants", "Small insertions/deletions", "Copy-number changes"] Parameters [] Preparation ["No specific fasting required", "Inform lab of any medications"] Indications ["Suspected Congenital Disorder of Glycosylation Type Id (CDG-Id)", "Family history of CDG-Id", "Evaluation of rare metabolic disorders"] Measurement technique Confirm with laboratory Codes LOINC: 77637-8 ICD-10: E74.89, Z13.79, Z14.9 Clinical summary This test detects pathogenic variants in the ALG3 gene associated with Congenital Disorder of Glycosylation Type Id (CDG-Id).
TEST-5617 ALS2 Gene Spastic Paralysis, Infantile Onset Ascending NGS Test This test identifies pathogenic variants in the ALS2 gene associated with infantile-onset ascending spastic paralysis.	Blood (Whole Blood EDTA), Dried Blood Spot (DBS), 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 ALS2 gene", "Single nucleotide variants", "Small insertions", "Small deletions"] Parameters [{"name": "Target Region Coverage", "reference_range": "Full gene (all exons, intron boundaries)"}, {"name": "Variant Detection Sensitivity", "reference_range": "99.9%"}] Preparation ["No specific fasting required.", "Inform the lab of any relevant family history."] Indications ["Suspected diagnosis of ALS2-related spastic paralysis", "Family history of hereditary spastic paraplegia"] Measurement technique Confirm with laboratory Codes LOINC: 81261-5 ICD-10: G11.4 Clinical summary This test identifies pathogenic variants in the ALS2 gene associated with infantile-onset ascending spastic paralysis.
TEST-5291 ANKH Gene Chondrocalcinosis Type 2 Genetic Test This test evaluates the ANKH gene for pathogenic variants associated with familial calcium pyrophosphate deposition disease (CPPD), also known as chondrocalcinosis type 2.	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 ANKH gene", "Single-nucleotide variants", "Insertions", "Deletions", "Copy-number changes"] Parameters [] Preparation ["Complete a genetic counselling session", "Provide a detailed three-generation family pedigree chart", "No fasting required", "Inform phlebotomist of any blood-thinning medications"] Indications ["Suspicion of familial calcium pyrophosphate deposition disease (CPPD)", "Family history of chondrocalcinosis", "Need for definitive molecular diagnosis to guide management and family screening"] Measurement technique Confirm with laboratory Codes LOINC: 21636-6 ICD-10: M11.2 Clinical summary This test evaluates the ANKH gene for pathogenic variants associated with familial calcium pyrophosphate deposition disease (CPPD), also known as chondrocalcinosis type 2.
TEST-4930 ARHGEF6 Gene (X-Linked Intellectual Disability Type 46) Genetic Test This test analyzes the ARHGEF6 gene for variants associated with X-linked Intellectual Disability Type 46.	Peripheral whole blood	3 to 4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["ARHGEF6 gene sequence", "Single-nucleotide variants (SNVs)", "Small indels"] Parameters [] Preparation ["Clinical history required", "Pre-test genetic counselling required", "Pedigree chart required"] Indications ["Suspected X-linked Intellectual Disability Type 46", "Carrier screening for ARHGEF6 variants", "Differential diagnosis of complex neurological conditions"] Measurement technique Confirm with laboratory Codes LOINC: 50390-2 ICD-10: F78.9 Clinical summary This test analyzes the ARHGEF6 gene for variants associated with X-linked Intellectual Disability Type 46.
TEST-3882 ATP1B4 Gene Genetic Test (Autism Spectrum Disorder) This test detects pathogenic variants in the ATP1B4 gene associated with autism spectrum disorder.	Peripheral whole blood (3–5 mL in EDTA tube); also accepts extracted DNA	3–4 weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic single-nucleotide variants in ATP1B4", "Small indels in ATP1B4"] Parameters [] Preparation ["No fasting required"] Indications ["Suspected genetic cause of autism spectrum disorder", "Family history of autism spectrum disorder", "Pre-test pedigree analysis suggests ATP1B4 involvement"] Measurement technique Confirm with laboratory Codes LOINC: 94219-7 ICD-10: F84.0, F84.9 Clinical summary This test detects pathogenic variants in the ATP1B4 gene associated with autism spectrum disorder.
TEST-6199 ATP8B1 Gene Progressive Familial Intrahepatic Cholestasis Type 1 (PFIC1) Genetic Test This genetic test evaluates the ATP8B1 gene for pathogenic variants associated with Progressive Familial Intrahepatic Cholestasis Type 1 (PFIC1). It helps confirm the diagnosis and...	Peripheral blood, dried blood spot (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 ["Pathogenic variants in the ATP8B1 gene", "Presence of mutations causing PFIC1"] Parameters [] Preparation ["No specific fasting required", "No need to stop prescribed medications unless advised by a physician"] Indications ["Diagnosis of PFIC1 in individuals with suggestive clinical features", "Carrier screening for family members", "Prenatal diagnosis", "Genetic counselling"] Measurement technique Confirm with laboratory Codes LOINC: 21638-4 ICD-10: K76.81 Clinical summary This genetic test evaluates the ATP8B1 gene for pathogenic variants associated with Progressive Familial Intrahepatic Cholestasis Type 1 (PFIC1). It helps confirm the diagnosis and guide management of this severe liver disorder.
TEST-6341 B4GALT1 Gene Glycosylation Disorder Type 2D (CDG-IId) Genetic Test This genetic test analyzes the B4GALT1 gene to identify pathogenic variants associated with Congenital Disorder of Glycosylation Type IId (CDG-IId). It confirms or rules out the di...	Whole blood (EDTA), extracted genomic DNA, or FTA card dried blood spot	3–4 weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["B4GALT1 gene sequence", "Copy Number Variants (CNVs) in B4GALT1"] Parameters [] Preparation ["No fasting required", "No medication changes required", "Mandatory genetic counselling session before sample collection", "Detailed three-generation family history required"] Indications ["Suspected Congenital Disorder of Glycosylation Type IId", "Biochemical testing suggesting CDG"] Measurement technique Confirm with laboratory Codes LOINC: 83886-6 ICD-10: E77.8 Clinical summary This genetic test analyzes the B4GALT1 gene to identify pathogenic variants associated with Congenital Disorder of Glycosylation Type IId (CDG-IId). It confirms or rules out the diagnosis in symptomatic individuals.
TEST-3503 BICC1 Gene Renal Cystic Dysplasia Susceptibility Test This test identifies pathogenic variants in the BICC1 gene associated with renal cystic dysplasia susceptibility.	Peripheral Whole Blood (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 BICC1 gene"] Parameters [] Preparation ["No specific fasting required", "Do not discontinue prescribed medication without consulting your doctor"] Indications ["Screening for BICC1-related renal cystic dysplasia", "Diagnosis in individuals with suspected hereditary renal-hepatic disorders", "Genetic counselling for at-risk families"] Measurement technique Confirm with laboratory Codes LOINC: 21626-0 ICD-10: Q61.4 Clinical summary This test identifies pathogenic variants in the BICC1 gene associated with renal cystic dysplasia susceptibility.

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.

Before booking

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.