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 76–90 of 133 matching tests.

Single Gene Disorders diagnostic tests, details, and listed prices
Test and description	Specimen	Typical duration	Price	Options
TEST-2319 NBAS Gene Short Stature, Optic Nerve Atrophy, and Pelger‑Huet Anomaly Genetic Test This diagnostic test evaluates the NBAS gene for pathogenic variants associated with SOPH syndrome.	Peripheral whole blood (EDTA), buccal swab, 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 NBAS gene", "Copy Number Variations (CNVs) within the NBAS gene"] Parameters [] Preparation ["No specific fasting required", "Inform lab of any medications"] Indications ["Suspected diagnosis of SOPH syndrome", "Family history of SOPH syndrome", "Carrier screening", "Prenatal diagnosis"] Measurement technique Confirm with laboratory Codes LOINC: 81247-9 ICD-10: Q87.1 Clinical summary This diagnostic test evaluates the NBAS gene for pathogenic variants associated with SOPH syndrome.
TEST-2481 NECTIN1 Gene Orofacial Cleft Type 7 Genetic Test This test identifies pathogenic variants in the NECTIN1 gene, associated with Orofacial Cleft Type 7.	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 NECTIN1 gene"] Parameters [] Preparation [] Indications ["Diagnosis of Orofacial Cleft Type 7", "Genetic counselling for families with Orofacial Cleft Type 7", "Guiding surgical planning"] Measurement technique Confirm with laboratory Codes LOINC: 95394-1 ICD-10: Q37.9 Clinical summary This test identifies pathogenic variants in the NECTIN1 gene, associated with Orofacial Cleft Type 7.
TEST-3840 NNT Gene Glucocorticoid Deficiency Type 4 (with/without Mineralocorticoid Deficiency) Genetic Test This genetic test identifies pathogenic variants in the NNT gene associated with familial glucocorticoid deficiency type 4.	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 NNT gene", "Familial glucocorticoid deficiency type 4"] Parameters [] Preparation ["No fasting required", "Continue all prescribed medications"] Indications ["Diagnosis of familial glucocorticoid deficiency type 4", "Family screening for carriers of NNT mutations", "Guiding hormone replacement therapy"] Measurement technique Confirm with laboratory Codes LOINC: 92713-0 ICD-10: E27.1 Clinical summary This genetic test identifies pathogenic variants in the NNT gene associated with familial glucocorticoid deficiency type 4.
TEST-5909 NPC2 Gene Niemann-Pick Disease Type C2 Genetic Test This genetic test evaluates the NPC2 gene for pathogenic variants associated with Niemann-Pick disease type C2.	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 NPC2 gene", "Copy number variants in the NPC2 gene"] Parameters [] Preparation ["Genetic counselling session mandatory prior to sample collection", "Obtain informed consent"] Indications ["Individuals with unexplained developmental delay, hepatosplenomegaly, ataxia, or vertical supranuclear gaze palsy", "Carrier screening in families with a known NPC2 mutation", "Prenatal diagnosis following genetic counselling"] Measurement technique Confirm with laboratory Codes LOINC: 82298-6 ICD-10: E75.24 Clinical summary This genetic test evaluates the NPC2 gene for pathogenic variants associated with Niemann-Pick disease type C2.
TEST-2248 OBSL1 Gene (Three M Syndrome Type 2) Genetic Test This test identifies pathogenic variants in the OBSL1 gene associated with Three M syndrome type 2.	Peripheral whole blood or extracted DNA (FTA card accepted)	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 OBSL1 gene", "Copy-number variations in the OBSL1 gene"] Parameters [] Preparation [] Indications ["Suspected diagnosis of Three M syndrome type 2", "Confirmation of clinical diagnosis"] Measurement technique Confirm with laboratory Codes LOINC: 81208-7 ICD-10: Q87.1 Clinical summary This test identifies pathogenic variants in the OBSL1 gene associated with Three M syndrome type 2.
TEST-3490 OCA2 Gene (Oculocutaneous Albinism Type 2) Genetic Test This test identifies pathogenic variants within the OCA2 gene, confirming a diagnosis of Oculocutaneous Albinism Type 2.	Whole Blood (EDTA tube), Extracted DNA (≥1 µg), or One Drop of 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 ["OCA2 gene sequence", "Pathogenic variants (SNVs, Indels, CNVs)"] Parameters [] Preparation ["No fasting required", "No medication adjustments needed", "Provide detailed clinical history", "Mandatory pre-test genetic counseling"] Indications ["Clinical suspicion of Oculocutaneous Albinism Type 2", "Family history of albinism", "Need for definitive diagnosis to guide management and counseling"] Measurement technique Confirm with laboratory Codes LOINC: 74899-0 ICD-10: E70.3 Clinical summary This test identifies pathogenic variants within the OCA2 gene, confirming a diagnosis of Oculocutaneous Albinism Type 2.
TEST-5424 OSMR Gene (Primary Localized Cutaneous Amyloidosis Type 1) Genetic Test This genetic test evaluates the OSMR gene for mutations associated with primary localized cutaneous amyloidosis type 1.	Whole Blood (Peripheral) / Extracted DNA / Dried Blood Spots on FTA cards	3–4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["OSMR gene mutations", "Variant classification"] Parameters [] Preparation [] Indications ["Diagnosis of primary localized cutaneous amyloidosis type 1", "Family risk assessment"] Measurement technique Confirm with laboratory Codes LOINC: 21636-8 ICD-10: L99.0 Clinical summary This genetic test evaluates the OSMR gene for mutations associated with primary localized cutaneous amyloidosis type 1.
TEST-5878 PEX13 Gene Zellweger Syndrome Genetic Test This test evaluates the PEX13 gene for mutations associated with Zellweger spectrum disorders.	Peripheral whole blood 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 ["Mutations in the PEX13 gene", "Variant-level resolution of the entire gene"] Parameters [] Preparation ["No specific fasting required", "Inform phlebotomist of any bleeding disorders or critical illness"] Indications ["Suspected Zellweger spectrum disorder", "Family planning for individuals with known PEX13 mutations", "Confirmation of diagnosis based on clinical and biochemical findings"] Measurement technique Confirm with laboratory Codes LOINC: 91855-5 ICD-10: E88.9 Clinical summary This test evaluates the PEX13 gene for mutations associated with Zellweger spectrum disorders.
TEST-3965 PHF6 Gene Borjeson-Forssman-Lehmann Syndrome Genetic Test This test evaluates the PHF6 gene for pathogenic variants associated with Borjeson-Forssman-Lehmann syndrome (BFLS). It utilizes Next Generation Sequencing (NGS) for comprehensive...	Peripheral whole blood (EDTA) – preferred; saliva (Oragene) accepted as alternative	3–4 weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Single nucleotide variants (SNVs)", "Small insertions/deletions (indels)", "Copy number variations (CNVs)"] Parameters [] Preparation ["No specific fasting required", "Inform lab of any anticoagulant therapy"] Indications ["Suspected Borjeson-Forssman-Lehmann syndrome (BFLS)", "X-linked intellectual disability"] Measurement technique Confirm with laboratory Codes LOINC: 92788-5 ICD-10: Q87.8, F70 Clinical summary This test evaluates the PHF6 gene for pathogenic variants associated with Borjeson-Forssman-Lehmann syndrome (BFLS). It utilizes Next Generation Sequencing (NGS) for comprehensive analysis.
TEST-2529 PIGN Gene Sequencing (NGS) Test This test identifies pathogenic variants in the PIGN gene associated with Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 1 (MCAHS1).	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 ["Pathogenic variants in the PIGN gene", "Single nucleotide variants", "Insertions", "Deletions", "Copy number variants"] Parameters [] Preparation ["Pre-test genetic counseling is mandatory.", "Informed consent is required."] Indications ["Suspected diagnosis of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 1 (MCAHS1)", "Children presenting with hypotonia, seizures, and dysmorphic features"] Measurement technique Confirm with laboratory Codes LOINC: 81793-9 ICD-10: E77.8, Q87.0, G40.909 Clinical summary This test identifies pathogenic variants in the PIGN gene associated with Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 1 (MCAHS1).
TEST-2730 PIGO Gene Hyperphosphatasia with Mental Retardation Syndrome Type 2 (HPMRS2) Genetic Test This genetic test identifies mutations in the PIGO gene responsible for Hyperphosphatasia with Mental Retardation Syndrome Type 2 (Mabry syndrome). It confirms the diagnosis by seq...	Whole blood, extracted DNA, 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 mutations in the PIGO gene"] Parameters [{"name": "PIGO Gene Sequencing", "reference_range": null}] Preparation ["No specific fasting required", "Inform phlebotomist of recent blood transfusion (within 2 weeks)"] Indications ["Clinical suspicion of Hyperphosphatasia with Mental Retardation Syndrome Type 2 (Mabry syndrome)", "Family history of HPMRS2", "Genetic counselling for carrier status"] Measurement technique Confirm with laboratory Codes LOINC: 81247-9 ICD-10: Q87.8 Clinical summary This genetic test identifies mutations in the PIGO gene responsible for Hyperphosphatasia with Mental Retardation Syndrome Type 2 (Mabry syndrome). It confirms the diagnosis by sequencing the entire gene.
TEST-2329 PIK3R1 Gene SHORT Syndrome Genetic Test This test evaluates the PIK3R1 gene for variants associated with SHORT syndrome.	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 ["PIK3R1 gene sequence", "Pathogenic variants"] Parameters [] Preparation [] Indications ["Suspected SHORT syndrome", "Family history of SHORT syndrome"] Measurement technique Confirm with laboratory Codes LOINC: 81266-9 ICD-10: Q87.1 Clinical summary This test evaluates the PIK3R1 gene for variants associated with SHORT syndrome.
TEST-4228 PLCB1 Gene Sequencing for Early Infantile Epileptic Encephalopathy Type 12 (EIEE12) Test This diagnostic test evaluates the PLCB1 gene for pathogenic variants associated with Early Infantile Epileptic Encephalopathy Type 12 (EIEE12).	Whole blood (EDTA), extracted genomic 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 ["PLCB1 gene sequence", "Pathogenic variants in PLCB1"] Parameters [] Preparation ["Pre-test genetic counseling required", "Written consent from parent/guardian for minors"] Indications ["Suspected Early Infantile Epileptic Encephalopathy Type 12 (EIEE12)", "Infants with early-onset, intractable seizures and developmental delay"] Measurement technique Confirm with laboratory Codes LOINC: 95431-1 ICD-10: G40.82 Clinical summary This diagnostic test evaluates the PLCB1 gene for pathogenic variants associated with Early Infantile Epileptic Encephalopathy Type 12 (EIEE12).
TEST-5657 PMP22 Gene Roussy–Lévy Syndrome Genetic Test This genetic test evaluates the PMP22 gene for pathogenic variants associated with Roussy–Lévy syndrome.	Whole Blood (3 mL)	3 – 4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["PMP22 gene coding region", "PMP22 gene splice sites"] Parameters [] Preparation [] Indications ["Suspected Roussy–Lévy syndrome", "Hereditary motor and sensory neuropathy"] Measurement technique Confirm with laboratory Codes LOINC: 48018-6 ICD-10: G60.0 Clinical summary This genetic test evaluates the PMP22 gene for pathogenic variants associated with Roussy–Lévy syndrome.
TEST-4929 PNP Gene Immunodeficiency Genetic Test This test identifies pathogenic variants in the PNP gene, confirming a diagnosis of Purine Nucleoside Phosphorylase deficiency.	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 PNP gene", "Single nucleotide variants (SNVs)", "Small insertions/deletions (indels)", "Copy number variations (CNVs) - available on request"] Parameters [] Preparation ["No specific fasting required", "Inform phlebotomist of any medications"] Indications ["Suspected Purine Nucleoside Phosphorylase deficiency", "Recurrent severe infections", "Failure to thrive", "Neurological or autoimmune symptoms suggestive of PNP deficiency"] Measurement technique Confirm with laboratory Codes LOINC: 101105-8 ICD-10: D81.5 Clinical summary This test identifies pathogenic variants in the PNP gene, confirming a diagnosis of Purine Nucleoside Phosphorylase deficiency.

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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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.