Single Gene Disorders tests in Dubai & UAE

Compare available Single Gene 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

133

Listed price range

2,800.00–4,000.00 AED

Clinical preparation

Confirm test-specific instructions with your clinician or laboratory.

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Single Gene Disorders test prices

Showing 91–105 of 133 matching tests.

Single Gene Disorders diagnostic tests, details, and listed prices
Test and description	Specimen	Typical duration	Price	Options
TEST-5916 PNPO Gene Pyridoxamine 5'-Phosphate Oxidase Deficiency Genetic Test This genetic test identifies mutations in the PNPO gene, confirming pyridoxamine 5'-phosphate oxidase deficiency, a cause of treatable infantile epilepsy.	Whole Blood (EDTA), Extracted DNA, or FTA Card	3–4 Weeks (expedited available)	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["PNPO gene sequence", "Mutations causing pyridoxamine 5'-phosphate oxidase deficiency"] Parameters [] Preparation ["Disclose all supplements, particularly high-dose biotin or vitamin B6", "Avoid high-dose biotin or pyridoxine supplements 48 hours prior if medically possible"] Indications ["Infants or neonates with drug-resistant seizures", "Suspicion of a treatable metabolic epilepsy"] Measurement technique Confirm with laboratory Codes LOINC: 81248-8 ICD-10: E88.8, G40.309, Z15.09 Clinical summary This genetic test identifies mutations in the PNPO gene, confirming pyridoxamine 5'-phosphate oxidase deficiency, a cause of treatable infantile epilepsy.
TEST-530 POLG Gene Alpers Syndrome Genetic Test This test identifies pathogenic variants in the POLG gene associated with Alpers syndrome.	Whole Blood (Peripheral)	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 POLG gene", "Mitochondrial DNA depletion disorder"] Parameters [] Preparation ["No special preparation is required.", "A pre-genetic counselling session is mandatory."] Indications ["Suspected Alpers syndrome", "Neurological symptoms suggestive of mitochondrial disease"] Measurement technique Confirm with laboratory Codes LOINC: 81247-9 ICD-10: G31.81 Clinical summary This test identifies pathogenic variants in the POLG gene associated with Alpers syndrome.
TEST-4843 POMP Gene Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma Genetic Test This genetic test analyzes the POMP gene to identify pathogenic variants associated with Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK syndrome).	Peripheral Whole Blood 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 ["POMP gene variants", "SNVs", "Indels", "CNVs"] Parameters [] Preparation ["No fasting required", "Continue prescribed medications"] Indications ["Suspected KLICK syndrome", "Differential diagnosis of ichthyosis", "Differential diagnosis of palmoplantar keratoderma"] Measurement technique Confirm with laboratory Codes LOINC: 21647-1 ICD-10: Q80.8 Clinical summary This genetic test analyzes the POMP gene to identify pathogenic variants associated with Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK syndrome).
TEST-6171 PPT1 Gene Ceroid Lipofuscinosis Neuronal Type 1 (CLN1) Genetic Test This test evaluates the PPT1 gene for pathogenic variants associated with Neuronal Ceroid Lipofuscinosis Type 1 (CLN1). It uses Next-Generation Sequencing (NGS) to detect mutations...	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 ["PPT1 gene sequence", "Pathogenic variants (SNVs, indels, splice sites)"] Parameters [] Preparation [] Indications ["Infants with suspected CLN1", "Family history of CLN1/NCL", "Carrier screening for at-risk relatives", "Pre-conception screening for couples"] Measurement technique Confirm with laboratory Codes LOINC: 76771-7 ICD-10: E75.4 Clinical summary This test evaluates the PPT1 gene for pathogenic variants associated with Neuronal Ceroid Lipofuscinosis Type 1 (CLN1). It uses Next-Generation Sequencing (NGS) to detect mutations within the gene's coding region.
TEST-4616 PSTPIP1 Gene (PAPA Syndrome) Genetic Test This genetic test identifies mutations in the PSTPIP1 gene associated with PAPA syndrome.	Whole Blood (EDTA), Dried Blood Spot (FTA card), or Pre-extracted DNA	3 – 4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["PSTPIP1 gene mutations", "Copy Number Variations (CNV) in PSTPIP1"] Parameters [] Preparation ["No fasting required", "No special preparation needed"] Indications ["Suspected PAPA syndrome", "Differential diagnosis of autoinflammatory disorders"] Measurement technique Confirm with laboratory Codes LOINC: 101039-1 ICD-10: M04.2 Clinical summary This genetic test identifies mutations in the PSTPIP1 gene associated with PAPA syndrome.
TEST-4935 PURA Gene Genetic Test This test detects pathogenic variants in the PURA gene associated with PURA Syndrome (MRD31), a rare neurodevelopmental disorder.	Whole Blood / Extracted DNA / 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 ["Pathogenic variants in the PURA gene (5q31.2)", "Pur-alpha protein encoding sequence"] Parameters [] Preparation ["Genetic Counselling session is mandatory prior to sample collection.", "No specific fasting or medication adjustments are required."] Indications ["Suspected Mental Retardation, Autosomal Dominant Type 31 (PURA Syndrome)", "Evaluation of unexplained neurodevelopmental disorders", "Patients with clinical features consistent with PURA Syndrome"] Measurement technique Confirm with laboratory Codes LOINC: 95932-6 ICD-10: F78.9, Z13.71, R62.50 Clinical summary This test detects pathogenic variants in the PURA gene associated with PURA Syndrome (MRD31), a rare neurodevelopmental disorder.
TEST-4938 RAB39B Gene X-Linked Intellectual Disability Type 72 NGS Test This test evaluates the RAB39B gene for pathogenic variants associated with X-linked intellectual disability type 72.	Peripheral 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 RAB39B gene", "Single nucleotide variants", "Small indels", "Copy number variants"] Parameters [] Preparation ["No specific fasting required", "Avoid recent blood transfusion (within 2 weeks)"] Indications ["Suspected X-linked intellectual disability type 72", "Family history of MRX72", "Diagnostic confirmation"] Measurement technique Confirm with laboratory Codes LOINC: 68976-8 ICD-10: F78 Clinical summary This test evaluates the RAB39B gene for pathogenic variants associated with X-linked intellectual disability type 72.
TEST-5305 RAPSN Gene Congenital Myasthenic Syndrome Type 11 (Acetylcholine Receptor Deficiency) Test This genetic test identifies mutations in the RAPSN gene associated with congenital myasthenic syndrome type 11, a disorder affecting neuromuscular transmission.	Blood (EDTA whole blood), extracted 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 ["RAPSN gene mutations", "Single-nucleotide variants", "Indel variants", "CNV variants"] Parameters [] Preparation ["No fasting required", "Pre-test genetic counselling mandatory"] Indications ["Suspected congenital myasthenic syndrome type 11", "Family screening for RAPSN mutations"] Measurement technique Confirm with laboratory Codes LOINC: 102450-0 ICD-10: G70.2 Clinical summary This genetic test identifies mutations in the RAPSN gene associated with congenital myasthenic syndrome type 11, a disorder affecting neuromuscular transmission.
TEST-3978 RASA1 Gene Parkes Weber Syndrome Genetic Test This test detects germline mutations in the RASA1 gene associated with Parkes Weber syndrome.	Peripheral whole blood (3–5 mL in EDTA tube) or FTA card finger-prick sample.	3–4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["RASA1 gene mutations", "Germline genetic variants"] Parameters [{"name": "Precision", "reference_range": "≥99.9% sensitivity; complete gene coverage including deep intronic regions"}] Preparation ["Pre-test genetic counselling session is mandatory"] Indications ["Clinical suspicion of Parkes Weber syndrome", "Asymptomatic family members of confirmed carriers", "Couples planning pregnancy with family history"] Measurement technique Confirm with laboratory Codes LOINC: 52906-4 ICD-10: Q27.8 Clinical summary This test detects germline mutations in the RASA1 gene associated with Parkes Weber syndrome.
TEST-4480 RNF216 Gene (Gordon Holmes Syndrome) Genetic Test This test evaluates the RNF216 gene for pathogenic variants associated with Gordon Holmes syndrome.	Whole blood (peripheral), 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 ["RNF216 gene coding region", "RNF216 gene exon-intron boundaries"] Parameters [] Preparation [] Indications ["Suspected Gordon Holmes syndrome", "Progressive neurological decline", "Hypogonadism"] Measurement technique Confirm with laboratory Codes LOINC: 101649-4 ICD-10: G31.8, E23.3, Z13.79 Clinical summary This test evaluates the RNF216 gene for pathogenic variants associated with Gordon Holmes syndrome.
TEST-3661 ROBO3 Gene Horizontal Gaze Palsy with Progressive Scoliosis (NGS) Genetic Test This genetic test evaluates the ROBO3 gene for mutations associated with Horizontal Gaze Palsy with Progressive Scoliosis (HGPPS). It identifies pathogenic variants responsible for...	Peripheral Whole Blood	3–4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["ROBO3 gene sequence", "Coding variants", "Splice-site alterations"] Parameters [] Preparation ["No specific fasting required.", "Do not discontinue prescribed medication unless advised by your physician."] Indications ["Suspected diagnosis of Horizontal Gaze Palsy with Progressive Scoliosis (HGPPS)", "Family history of HGPPS", "Need for genetic confirmation for clinical management"] Measurement technique Confirm with laboratory Codes LOINC: 55233-1 ICD-10: H51.0, M41.9 Clinical summary This genetic test evaluates the ROBO3 gene for mutations associated with Horizontal Gaze Palsy with Progressive Scoliosis (HGPPS). It identifies pathogenic variants responsible for this rare neurological disorder.
TEST-4684 RPGRIP1L Gene Joubert Syndrome Type 7 Genetic Test This test detects pathogenic variants in the RPGRIP1L gene associated with Joubert syndrome type 7.	Whole Blood (EDTA), Extracted DNA, or 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 RPGRIP1L gene", "Single-nucleotide variants", "Small indels", "Copy number changes"] Parameters [] Preparation [] Indications ["Infants and young children presenting with cerebellar vermis hypoplasia (molar tooth sign)", "Hypotonia", "Abnormal eye movements", "Developmental delay"] Measurement technique Confirm with laboratory Codes LOINC: 81247-9 ICD-10: Q04.3 Clinical summary This test detects pathogenic variants in the RPGRIP1L gene associated with Joubert syndrome type 7.
TEST-3300 RPS28 Gene Diamond-Blackfan Anemia Type 15 with Mandibulofacial Dysostosis Genetic Test This genetic test evaluates the RPS28 gene for mutations associated with Diamond-Blackfan anemia type 15 and mandibulofacial dysostosis.	Peripheral 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 ["RPS28 gene mutations", "Point mutations", "Small indels", "Copy number variants"] Parameters [] Preparation ["No specific fasting required", "Inform lab of any current medications"] Indications ["Suspected Diamond-Blackfan anemia type 15", "Family history of Diamond-Blackfan anemia", "Need for genetic confirmation for treatment planning"] Measurement technique Confirm with laboratory Codes LOINC: 74671-0 ICD-10: D61.0, Q75.4 Clinical summary This genetic test evaluates the RPS28 gene for mutations associated with Diamond-Blackfan anemia type 15 and mandibulofacial dysostosis.
TEST-5284 RUNX2 Gene Cleidocranial Dysplasia Genetic Test This test evaluates the RUNX2 gene for pathogenic variants associated with cleidocranial dysplasia.	Peripheral Whole Blood, 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 ["Pathogenic variants in the RUNX2 gene"] Parameters [] Preparation [] Indications ["Confirming a clinical diagnosis of cleidocranial dysplasia", "Assessing familial risk", "Enabling personalized management strategies"] Measurement technique Confirm with laboratory Codes LOINC: 95758-9 ICD-10: Q75.8 Clinical summary This test evaluates the RUNX2 gene for pathogenic variants associated with cleidocranial dysplasia.
TEST-4544 SCN4A Gene Hyperkalemic Periodic Paralysis Genetic Test This genetic test identifies pathogenic variants in the SCN4A gene associated with hyperkalemic periodic paralysis.	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 ["SCN4A gene variants", "Pathogenic mutations"] Parameters [] Preparation ["No specific fasting required", "Do not discontinue prescribed medication without consulting your physician"] Indications ["Suspected hyperkalemic periodic paralysis", "Family history of periodic paralysis", "Need for definitive molecular diagnosis"] Measurement technique Confirm with laboratory Codes LOINC: 81265-8 ICD-10: G72.3 Clinical summary This genetic test identifies pathogenic variants in the SCN4A gene associated with hyperkalemic periodic paralysis.

Category overview

Single Gene 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 Single Gene Disorders evaluates your DNA for a curated selection of mutations known to cause distinct monogenic conditions. Utilizing state-of-the-art sequencing technology, this empowering molecular screening provides the critical clarity needed to assess carrier status, safely guiding informed family planning, IVF decisions, and specialized reproductive counseling. Widely respected for compassionate family planning among top diagnostic labs in the UAE, DNA Labs ensures absolute patient confidentiality, uncompromising analytical accuracy, and rapid, dependable reporting. Safeguard your family’s future—schedule your single gene disorders testing in UAE, arrange a comfortable clinic or home sample collection, or connect with our dedicated reproductive specialists.

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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.