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

Confirm test-specific instructions with your clinician or laboratory.

Compare available tests

Genetic Disorders test prices

Showing 106–120 of 136 matching tests.

Genetic Disorders diagnostic tests, details, and listed prices
Test and description	Specimen	Typical duration	Price	Options
TEST-5236 PYCR1 Gene, Cutis Laxa Type 2B, Autosomal Recessive Genetic Test This test identifies pathogenic mutations in the PYCR1 gene to confirm Autosomal Recessive Cutis Laxa Type 2B.	Whole Blood (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 ["PYCR1 gene sequence", "Copy Number Variations (CNV) in PYCR1 gene"] Parameters [] Preparation ["Mandatory pre-test genetic counselling session", "Do not discontinue prescribed medication without consultation"] Indications ["Suspected Autosomal Recessive Cutis Laxa Type 2B", "Family history of ARCL2B", "Need for definitive molecular diagnosis for management"] Measurement technique Confirm with laboratory Codes LOINC: 21636-6 ICD-10: Q82.8 Clinical summary This test identifies pathogenic mutations in the PYCR1 gene to confirm Autosomal Recessive Cutis Laxa Type 2B.
TEST-3022 RAB23 Gene Carpenter Syndrome Genetic Test This test sequences the RAB23 gene to detect pathogenic variants associated with Carpenter 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 RAB23 gene", "Single nucleotide variants", "Small insertions and deletions", "Copy number alterations"] Parameters [] Preparation [] Indications ["Suspected Carpenter syndrome", "Family history of Carpenter syndrome", "Need for definitive molecular diagnosis"] Measurement technique Confirm with laboratory Codes LOINC: 47708-2 ICD-10: Q87.0, Q87.2 Clinical summary This test sequences the RAB23 gene to detect pathogenic variants associated with Carpenter syndrome.
TEST-4382 RANBP2 Gene Encephalopathy, Acute Necrotizing Type 1, Genetic Test This genetic test identifies disease-causing variants in the RANBP2 gene associated with Acute Necrotizing Encephalopathy Type 1.	Peripheral whole blood (EDTA), extracted genomic DNA, or dried blood spot on 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 ["Pathogenic and likely pathogenic variants in the RANBP2 gene", "Coding region and conserved splice-site boundaries"] Parameters [] Preparation ["No specific fasting required.", "Do not discontinue, alter, or initiate any prescribed medication without explicit guidance from your treating physician."] Indications ["Suspected diagnosis of Acute Necrotizing Encephalopathy Type 1 (ANE1)", "Family history of ANE1", "Recurrence risk assessment", "Informed family planning"] Measurement technique Confirm with laboratory Codes LOINC: 82267-6 ICD-10: G04.8 Clinical summary This genetic test identifies disease-causing variants in the RANBP2 gene associated with Acute Necrotizing Encephalopathy Type 1.
TEST-5829 RPIA Gene Ribose 5‑Phosphate Isomerase Deficiency Genetic Test This test evaluates the RPIA gene for pathogenic variants associated with ribose 5-phosphate isomerase deficiency.	Whole Blood (EDTA), Extracted DNA, or FTA Card 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 RPIA gene", "Single nucleotide variants", "Insertions/Deletions (Indels)", "Copy Number Variations (CNVs)"] Parameters [] Preparation ["No specific fasting required", "Do not discontinue prescribed medication without consulting your physician"] Indications ["Suspected ribose 5-phosphate isomerase deficiency", "Family history of RPIA deficiency", "Evaluation of metabolic disorders"] Measurement technique Confirm with laboratory Codes LOINC: 92252-5 ICD-10: E74.8 Clinical summary This test evaluates the RPIA gene for pathogenic variants associated with ribose 5-phosphate isomerase deficiency.
TEST-2533 RTTN Gene Microcephaly, Short Stature, and Polymicrogyria with Seizures Genetic Test This test analyzes the entire coding region of the RTTN gene to identify pathogenic variants associated with microcephaly, short stature, and polymicrogyria with seizures.	Whole Blood 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 RTTN gene", "Full gene coverage (exons, splice sites)"] Parameters [] Preparation [] Indications ["Pediatric patients presenting with microcephaly, short stature, and polymicrogyria with seizures", "Need for precise molecular diagnosis", "Informed genetic counseling"] Measurement technique Confirm with laboratory Codes LOINC: 21775-6 ICD-10: Q02, Q04.3, E34.3, R56.9 Clinical summary This test analyzes the entire coding region of the RTTN gene to identify pathogenic variants associated with microcephaly, short stature, and polymicrogyria with seizures.
TEST-3428 RXFP2 Gene Cryptorchidism Genetic Test This test identifies pathogenic variants in the RXFP2 gene associated with cryptorchidism.	Peripheral whole blood or FTA card	3 to 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 RXFP2 gene", "Single-nucleotide variants", "Small indels"] Parameters [] Preparation ["Complete clinical history documentation", "Mandatory genetic counselling session", "Detailed pedigree chart construction"] Indications ["Diagnosis of cryptorchidism", "Family history of cryptorchidism linked to RXFP2", "Genetic counselling for reproductive planning"] Measurement technique Confirm with laboratory Codes LOINC: 81247-9 ICD-10: Q53.9 Clinical summary This test identifies pathogenic variants in the RXFP2 gene associated with cryptorchidism.
TEST-3174 SBDS Gene Shwachman-Diamond Syndrome Genetic Test This test evaluates the SBDS gene for pathogenic variants associated with Shwachman-Diamond syndrome.	Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card)	7-10 Business Days	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the SBDS gene"] Parameters [] Preparation ["No fasting required", "No medication adjustments needed unless directed by physician"] Indications ["Suspected Shwachman-Diamond syndrome", "Persistent neutropenia", "Exocrine pancreatic insufficiency", "Bone marrow failure", "Family history of SDS"] Measurement technique Confirm with laboratory Codes LOINC: 81264-9 ICD-10: Q87.1 Clinical summary This test evaluates the SBDS gene for pathogenic variants associated with Shwachman-Diamond syndrome.
TEST-5591 SEPSECS Gene Pontocerebellar Hypoplasia Type 2D Genetic Test This genetic test identifies pathogenic variants in the SEPSECS gene associated with pontocerebellar hypoplasia type 2D.	Whole Blood (EDTA) or FTA Card (Dried Blood Spot)	3–4 Weeks (expedited reporting available)	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the SEPSECS gene"] Parameters [] Preparation ["No fasting required", "Avoid heparin anticoagulants if whole blood is drawn; EDTA tubes are preferred"] Indications ["Suspected diagnosis of pontocerebellar hypoplasia type 2D", "Family history of pontocerebellar hypoplasia type 2D", "Genetic counselling for families with affected individuals"] Measurement technique Confirm with laboratory Codes LOINC: 92618-6 ICD-10: Q04.8 Clinical summary This genetic test identifies pathogenic variants in the SEPSECS gene associated with pontocerebellar hypoplasia type 2D.
TEST-5934 SERAC1 Gene 3‑Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh‑like Syndrome Genetic Test This test evaluates the SERAC1 gene for pathogenic variants associated with 3‑methylglutaconic aciduria with deafness, encephalopathy, and Leigh‑like syndrome (MEGDEL).	Whole Blood (Peripheral) or Genomic DNA Extract	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 SERAC1 gene", "Single-nucleotide variants", "Copy-number variants"] Parameters [] Preparation ["No specific fasting required", "Do not discontinue prescribed medications unless advised by your physician"] Indications ["Clinical suspicion of MEGDEL syndrome", "Family history of MEGDEL syndrome", "Presence of characteristic clinical features (deafness, encephalopathy, Leigh-like syndrome)"] Measurement technique Confirm with laboratory Codes LOINC: 94222-1 ICD-10: E71.1 Clinical summary This test evaluates the SERAC1 gene for pathogenic variants associated with 3‑methylglutaconic aciduria with deafness, encephalopathy, and Leigh‑like syndrome (MEGDEL).
TEST-3844 SLC12A3 Gene Gitelman Syndrome Genetic Test This genetic test identifies pathogenic variants in the SLC12A3 gene, confirming the molecular basis of Gitelman syndrome.	Whole Blood (Peripheral Venous)	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 SLC12A3 gene", "Copy number variations in the SLC12A3 gene"] Parameters [] Preparation ["No special fasting required", "Maintain adequate hydration", "Inform phlebotomist of current medications"] Indications ["Suspected Gitelman syndrome", "Family history of Gitelman syndrome", "Unexplained electrolyte abnormalities"] Measurement technique Confirm with laboratory Codes LOINC: 94734-5 ICD-10: N15.1 Clinical summary This genetic test identifies pathogenic variants in the SLC12A3 gene, confirming the molecular basis of Gitelman syndrome.
TEST-3927 SLC12A5 Gene Bartter Syndrome Genetic Test This genetic test evaluates the SLC12A5 gene for mutations associated with Bartter syndrome type 3.	Venous Blood, 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 ["SLC12A5 gene coding region variants", "Mutations causing Bartter syndrome type 3"] Parameters [] Preparation ["Pre-test genetic counselling required", "Provide a three-generation pedigree chart"] Indications ["Suspected Bartter syndrome type 3", "Family history suggestive of the condition", "Patients with hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism"] Measurement technique Confirm with laboratory Codes LOINC: 69547-9 ICD-10: E26.81 Clinical summary This genetic test evaluates the SLC12A5 gene for mutations associated with Bartter syndrome type 3.
TEST-3182 SLC19A2 Gene Thiamine-Responsive Megaloblastic Anemia Syndrome Genetic Test This test identifies pathogenic variants in the SLC19A2 gene, confirming a diagnosis of thiamine-responsive megaloblastic anemia syndrome (TRMA).	Peripheral whole blood (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 SLC19A2 gene", "Copy Number Variations (CNV) in the SLC19A2 gene"] Parameters [] Preparation ["No specific fasting required", "No medication adjustments needed"] Indications ["Suspected thiamine-responsive megaloblastic anemia syndrome (TRMA)", "Family history of TRMA", "Unexplained megaloblastic anemia"] Measurement technique Confirm with laboratory Codes LOINC: 94810-3 ICD-10: D53.1 Clinical summary This test identifies pathogenic variants in the SLC19A2 gene, confirming a diagnosis of thiamine-responsive megaloblastic anemia syndrome (TRMA).
TEST-6054 SLC22A5 Gene Carnitine Deficiency Genetic Test This genetic test evaluates the SLC22A5 gene for pathogenic variants associated with primary carnitine deficiency.	Peripheral 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 ["Pathogenic variants in the SLC22A5 gene", "SNVs, indels, CNVs across the entire coding region"] Parameters [] Preparation ["Pre-test genetic counselling is mandatory", "Provide clinical history and pedigree chart"] Indications ["Suspected primary carnitine deficiency", "Family history of carnitine deficiency", "Metabolic disorders"] Measurement technique Confirm with laboratory Codes LOINC: 83092-2 ICD-10: E71.42 Clinical summary This genetic test evaluates the SLC22A5 gene for pathogenic variants associated with primary carnitine deficiency.
TEST-5433 SLC24A4 Gene Amelogenesis Imperfecta Type 2A5 Genetic Test This genetic test identifies pathogenic variants in the SLC24A4 gene associated with Amelogenesis Imperfecta Type 2A5.	Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot 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 SLC24A4 gene", "Single Nucleotide Variants (SNVs)", "Insertions/Deletions (indels)", "Copy Number Variants (CNVs)"] Parameters [] Preparation [] Indications ["Diagnosis of Amelogenesis Imperfecta Type 2A5", "Genetic counselling for families with enamel defects", "Prenatal diagnosis (if mutation identified in family)"] Measurement technique Confirm with laboratory Codes LOINC: 55233-1 ICD-10: K00.5 Clinical summary This genetic test identifies pathogenic variants in the SLC24A4 gene associated with Amelogenesis Imperfecta Type 2A5.
TEST-5502 SLC26A2 Gene Achondrogenesis Type 1B Genetic Test This test evaluates the SLC26A2 gene for pathogenic variants associated with Achondrogenesis 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 ["SLC26A2 gene sequence", "Copy number variants in SLC26A2"] Parameters [] Preparation [] Indications ["Prenatal diagnosis", "Postnatal diagnosis", "Carrier screening", "Family risk assessment"] Measurement technique Confirm with laboratory Codes LOINC: 76076-3 ICD-10: Q77.0 Clinical summary This test evaluates the SLC26A2 gene for pathogenic variants associated with Achondrogenesis Type 1B.

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.

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.