Single Gene Sequencing tests in Dubai & UAE

Compare available Single Gene Sequencing 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

297

Listed price range

2,800.00–4,000.00 AED

Clinical preparation

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Single Gene Sequencing test prices

Showing 226–240 of 297 matching tests.

Single Gene Sequencing diagnostic tests, details, and listed prices
Test and description	Specimen	Typical duration	Price	Options
TEST-3582 RIMS1 Gene Cone-Rod Dystrophy Type 7 Genetic Test This test identifies pathogenic mutations within the RIMS1 gene associated with cone-rod dystrophy type 7.	Whole blood (3–5 mL in EDTA tube), 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 ["RIMS1 gene sequence", "Pathogenic mutations in RIMS1"] Parameters [] Preparation ["None specific for standard venipuncture"] Indications ["Suspected diagnosis of cone-rod dystrophy type 7", "Family history of inherited retinal dystrophy", "Need for genetic confirmation for family planning", "Access to emerging therapies"] Measurement technique Confirm with laboratory Codes LOINC: 55233-1 ICD-10: H35.52 Clinical summary This test identifies pathogenic mutations within the RIMS1 gene associated with cone-rod dystrophy type 7.
TEST-3725 RNASEH2A Gene Sequencing for Aicardi-Goutières Syndrome Type 4 Test This test identifies pathogenic variants in the RNASEH2A gene to confirm a diagnosis of Aicardi-Goutières Syndrome Type 4.	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 RNASEH2A gene"] Parameters [] Preparation ["No specific fasting required", "Inform physician about current medications"] Indications ["Clinical suspicion of Aicardi-Goutières Syndrome Type 4", "Severe neuroinflammatory disorder"] Measurement technique Confirm with laboratory Codes LOINC: 81260-3 ICD-10: G31.81 Clinical summary This test identifies pathogenic variants in the RNASEH2A gene to confirm a diagnosis of Aicardi-Goutières Syndrome Type 4.
TEST-4701 ROGDI Gene Kohlschütter-Tönz Syndrome Genetic Test This genetic test detects pathogenic variants in the ROGDI gene, confirming a diagnosis of Kohlschütter-Tönz Syndrome.	Whole Blood (EDTA), Extracted DNA (≥2 µg, A260/A280: 1.8–2.0), Dried Blood Spot 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 ["Pathogenic variants in the ROGDI gene", "SNVs", "Indels", "CNVs"] Parameters [] Preparation ["Mandatory pre-test genetic counselling session", "Signed informed consent required"] Indications ["Patients with clinical triad of amelogenesis imperfecta, drug-resistant epilepsy, and progressive cognitive decline", "Family cascade screening", "Preconception carrier screening"] Measurement technique Confirm with laboratory Codes LOINC: 101399-7 ICD-10: G40.909, K00.5, Z13.71 Clinical summary This genetic test detects pathogenic variants in the ROGDI gene, confirming a diagnosis of Kohlschütter-Tönz Syndrome.
TEST-3278 RPL5 Gene Diamond-Blackfan Anemia Type 6 Genetic Test This test identifies pathogenic variants in the RPL5 gene associated with Diamond-Blackfan Anemia Type 6.	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 RPL5 gene", "Single nucleotide variants", "Insertions/deletions", "Low-level mosaicism"] Parameters [] Preparation ["Undergo genetic counselling before sample collection", "No fasting required"] Indications ["Suspected Diamond-Blackfan Anemia", "Family history of Diamond-Blackfan Anemia", "Need for definitive molecular diagnosis"] Measurement technique Confirm with laboratory Codes LOINC: 81247-9 ICD-10: D61.0 Clinical summary This test identifies pathogenic variants in the RPL5 gene associated with Diamond-Blackfan Anemia Type 6.
TEST-4086 RPS6KA3 Gene Coffin‑Lowry Syndrome Genetic Test This test analyzes the RPS6KA3 gene for variants associated with Coffin‑Lowry syndrome (CLS), an X-linked dominant disorder.	Peripheral whole blood (3–5 mL) in an EDTA tube, extracted DNA, or dried blood spot on an 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 RPS6KA3 gene", "Single Nucleotide Variants (SNVs)", "Indels", "Copy Number Changes"] Parameters [] Preparation [] Indications ["Suspected Coffin‑Lowry syndrome", "Family history of Coffin‑Lowry syndrome", "Need for genetic counselling and family planning"] Measurement technique Confirm with laboratory Codes LOINC: 97920-5 ICD-10: Q87.8 Clinical summary This test analyzes the RPS6KA3 gene for variants associated with Coffin‑Lowry syndrome (CLS), an X-linked dominant disorder.
TEST-5103 RYR1 Gene Analysis (Minicore Myopathy with External Ophthalmoplegia) Test This test evaluates the RYR1 gene for pathogenic variants associated with minicore myopathy with external ophthalmoplegia.	Whole Blood, Extracted DNA, or FTA Card Sample	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 RYR1 gene", "Single Nucleotide Variants (SNVs)", "Insertions/Deletions (Indels)", "Copy Number Variants (CNVs)"] Parameters [] Preparation ["No specific fasting required", "No need to stop prescribed medications or supplements"] Indications ["Suspected minicore myopathy with external ophthalmoplegia", "Family history of RYR1-related disorders", "Need for definitive molecular diagnosis"] Measurement technique Confirm with laboratory Codes LOINC: 76720-0 ICD-10: G71.2, Z15.89, Z14.8 Clinical summary This test evaluates the RYR1 gene for pathogenic variants associated with minicore myopathy with external ophthalmoplegia.
TEST-4391 SCO2 Gene Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency Genetic Test This genetic test identifies pathogenic variants in the SCO2 gene associated with fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency.	Peripheral Whole Blood (3 mL EDTA), FTA Card 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 SCO2 gene"] Parameters [] Preparation ["No specific fasting required", "No medication adjustments needed"] Indications ["Suspected fatal infantile cardioencephalomyopathy", "Family history of SCO2-related disorders", "Carrier screening for at-risk family members"] Measurement technique Confirm with laboratory Codes LOINC: 100034-8 ICD-10: E88.49 Clinical summary This genetic test identifies pathogenic variants in the SCO2 gene associated with fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency.
TEST-5491 SF3B4 Gene Acrofacial Dysostosis 1, Nager Type Genetic Test (NGS) This test identifies pathogenic variants in the SF3B4 gene associated with Acrofacial Dysostosis 1 (Nager syndrome). It provides a definitive molecular diagnosis for this specific...	Peripheral Blood or Saliva	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 SF3B4 gene", "Entire coding exons ±10 bp splice sites"] Parameters [] Preparation ["No special preparation required", "Patient may eat and drink normally"] Indications ["Suspected Acrofacial Dysostosis 1 (Nager syndrome)", "Family history of Nager syndrome", "Genetic counseling for family planning"] Measurement technique Confirm with laboratory Codes LOINC: 21636-6 ICD-10: Q87.0 Clinical summary This test identifies pathogenic variants in the SF3B4 gene associated with Acrofacial Dysostosis 1 (Nager syndrome). It provides a definitive molecular diagnosis for this specific genetic condition.
TEST-5476 SFTPA2 Gene Idiopathic Pulmonary Fibrosis Genetic Test This test evaluates for pathogenic mutations in the SFTPA2 gene, which are associated with an increased risk of developing idiopathic pulmonary fibrosis.	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 ["Mutations in the SFTPA2 gene"] Parameters [] Preparation ["No fasting required", "Inform phlebotomist if taking anticoagulants"] Indications ["Individuals with a first-degree relative diagnosed with IPF", "Adults with early-onset unexplained interstitial lung disease", "Reproductive risk assessment"] Measurement technique Confirm with laboratory Codes LOINC: 91854-8 ICD-10: J84.112, Z13.83 Clinical summary This test evaluates for pathogenic mutations in the SFTPA2 gene, which are associated with an increased risk of developing idiopathic pulmonary fibrosis.
TEST-2748 SHH Gene Holoprosencephaly Type 3 Genetic Test This diagnostic test evaluates the SHH gene for pathogenic variants associated with Holoprosencephaly type 3.	Whole Blood (EDTA) 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 ["SHH gene coding region variants", "SHH gene copy number variants"] Parameters [] Preparation ["Clinical history of the patient", "Genetic counseling session"] Indications ["Diagnosis of Holoprosencephaly type 3", "Genetic counseling for families with Holoprosencephaly"] Measurement technique Confirm with laboratory Codes LOINC: 94531-1 ICD-10: Q04.2 Clinical summary This diagnostic test evaluates the SHH gene for pathogenic variants associated with Holoprosencephaly type 3.
TEST-2513 SHOC2 Gene (Noonan Syndrome-like) Genetic Test This test evaluates the SHOC2 gene for pathogenic variants associated with Noonan syndrome-like disorder with loose anagen hair and related RASopathies.	Whole Blood (Peripheral, EDTA) or Buccal Swab / FTA Card	3–4 weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["SHOC2 gene coding region", "SHOC2 gene splice sites", "SHOC2 gene deletions/duplications"] Parameters [] Preparation ["No specific fasting required.", "Inform the lab of any medications being taken."] Indications ["Suspected Noonan syndrome-like disorder with loose anagen hair", "Family history of Noonan syndrome-like disorder", "Differential diagnosis of RASopathies"] Measurement technique Confirm with laboratory Codes LOINC: 94197-2 ICD-10: Q87.1 Clinical summary This test evaluates the SHOC2 gene for pathogenic variants associated with Noonan syndrome-like disorder with loose anagen hair and related RASopathies.
TEST-2324 SHOX Gene Short Stature Syndrome Genetic Test This test evaluates the entire coding region of the SHOX gene for mutations associated with short stature syndromes.	EDTA 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 ["SHOX gene point mutations", "SHOX gene copy-number variants", "SHOX gene structural rearrangements"] Parameters [] Preparation ["No special preparation needed beyond genetic counselling consult"] Indications ["Idiopathic short stature", "Suspected Léri‑Weill dyschondrosteosis", "Suspected Langer mesomelic dysplasia"] Measurement technique Confirm with laboratory Codes LOINC: 81345-3 ICD-10: Q87.1 Clinical summary This test evaluates the entire coding region of the SHOX gene for mutations associated with short stature syndromes.
TEST-5910 SHROOM4 Gene Genetic Test for Stocco Dos Santos X‑Linked Intellectual Disability Syndrome This test identifies pathogenic variants in the SHROOM4 gene associated with Stocco Dos Santos X‑linked intellectual disability syndrome.	Whole blood (EDTA), FTA card, or extracted genomic 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 SHROOM4 gene"] Parameters [] Preparation ["Mandatory genetic counselling session prior to testing"] Indications ["Suspected Stocco Dos Santos X‑linked intellectual disability syndrome", "Family history of the syndrome", "Genetic counselling for recurrence risk"] Measurement technique Confirm with laboratory Codes LOINC: 94862-5 ICD-10: F78 Clinical summary This test identifies pathogenic variants in the SHROOM4 gene associated with Stocco Dos Santos X‑linked intellectual disability syndrome.
TEST-4267 SIK1 Gene Sequencing for Early Infantile Epileptic Encephalopathy Type 30 (NGS) Test This test identifies pathogenic variants within the SIK1 gene associated with early infantile epileptic encephalopathy type 30 (EIEE30).	Whole blood, extracted DNA, or dried blood spot (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 ["SIK1 gene sequence", "Pathogenic variants in SIK1"] Parameters [] Preparation ["No specific patient preparation required"] Indications ["Suspected Early Infantile Epileptic Encephalopathy Type 30 (EIEE30)", "Severe, drug-resistant epilepsy in neonates or infants"] Measurement technique Confirm with laboratory Codes LOINC: 81378-7 ICD-10: G40.42, G40.89 Clinical summary This test identifies pathogenic variants within the SIK1 gene associated with early infantile epileptic encephalopathy type 30 (EIEE30).
TEST-3526 SIL1 Gene Cataract, Congenital, Associated with Marinesco-Sjögren Syndrome Genetic Test This test identifies pathogenic variants in the SIL1 gene, which are causative for Marinesco-Sjögren syndrome and associated congenital cataracts.	Peripheral whole 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 ["SIL1 gene pathogenic variants", "Causative mutations for MSS"] Parameters [] Preparation [] Indications ["Suspected Marinesco-Sjögren syndrome", "Congenital cataracts with neurological symptoms"] Measurement technique Confirm with laboratory Codes LOINC: 82185-1 ICD-10: H26.0 Clinical summary This test identifies pathogenic variants in the SIL1 gene, which are causative for Marinesco-Sjögren syndrome and associated congenital cataracts.

Category overview

Single Gene Sequencing: overview

Achieving a definitive diagnosis for a monogenic disorder often requires reading the entire genetic code of a specific gene to find elusive errors. As an elite subspecialty within our Genetics department, Single Gene Sequencing expansively scans the entirety of a single targeted gene to uncover rare or novel mutations. Utilizing state-of-the-art diagnostic technology, this comprehensive molecular screening provides the critical clarity needed to establish a firm diagnosis, safely guiding customized medical management and targeted therapeutic interventions. Consistently ranked among the top diagnostic labs in the UAE, DNA Labs guarantees the utmost in patient confidentiality, uncompromising analytical accuracy, and prompt, reliable reporting. Find the clear, definitive answers you need—schedule your single gene sequencing testing in UAE, arrange a comfortable home sample collection, or contact our specialized medical genetics professionals.

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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.