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Diagnostic options · UAE

Single Gene tests in Dubai & UAE

Compare available Single Gene 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

332

Listed price range

2,000.00–2,800.00 AED

Clinical preparation

Confirm test-specific instructions with your clinician or laboratory.

Compare available tests

Single Gene test prices

Showing 211–225 of 332 matching tests.

Single Gene diagnostic tests, details, and listed prices
Test and description Specimen Typical duration Price Options
TEST-4976
OPHN1 Gene X‑Linked Intellectual Disability with Cerebellar Hypoplasia Genetic Test

This test analyzes the OPHN1 gene for pathogenic variants associated with X-linked intellectual disability, cerebellar hypoplasia, and distinctive facial features.

Peripheral whole blood (5 mL in EDTA) or extracted DNA / FTA card 3–4 Weeks (express available) 2,800.00 AED
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What it measures
["Pathogenic variants in the OPHN1 gene", "Full coding region coverage"]
Parameters
[{"name": "OPHN1 Gene Coverage", "reference_range": "Full gene coverage"}, {"name": "Analytic Sensitivity", "reference_range": ">99.9%"}]
Preparation
["No specific fasting required", "Inform lab of any medications"]
Indications
["Suspected X-linked intellectual disability", "Cerebellar hypoplasia", "Distinctive facial dysmorphism"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 93934-5 ICD-10: Q04.3, F70
Clinical summary
This test analyzes the OPHN1 gene for pathogenic variants associated with X-linked intellectual disability, cerebellar hypoplasia, and distinctive facial features.
TEST-4476
PAX3 Gene (Waardenburg Syndrome Type 1) Genetic Test

This test sequences the PAX3 gene to identify pathogenic variants associated with Waardenburg syndrome type 1.

Whole blood (3–5 mL in EDTA tube), extracted DNA, or buccal swab 3–4 weeks 2,800.00 AED
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View test specifications and preparation
What it measures
["Pathogenic variants in the PAX3 gene", "Single-nucleotide variants (SNVs)", "Small insertions/deletions (indels)", "Copy-number changes"]
Parameters
[]
Preparation
[]
Indications
["Individuals with features suggestive of Waardenburg syndrome", "Family members of a confirmed case"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 75166-5 ICD-10: Q87.8
Clinical summary
This test sequences the PAX3 gene to identify pathogenic variants associated with Waardenburg syndrome type 1.
TEST-2587
PCNT Gene Microcephalic Osteodysplastic Primordial Dwarfism Type 2 Genetic Test

This test identifies pathogenic variants in the PCNT gene, confirming a diagnosis of Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD II).

Whole Blood or Buccal Swab 3–4 Weeks 2,800.00 AED
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View test specifications and preparation
What it measures
["PCNT gene sequence", "Pathogenic variants in PCNT gene"]
Parameters
[]
Preparation
[]
Indications
["Individuals with clinical features suggestive of MOPD II", "Families with a known PCNT mutation", "Reproductive risk assessment"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 92809-0 ICD-10: Q87.1
Clinical summary
This test identifies pathogenic variants in the PCNT gene, confirming a diagnosis of Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD II).
TEST-4587
PDE6D Gene Joubert Syndrome Type 22 Genetic Test

This test identifies pathogenic variants in the PDE6D gene associated with Joubert syndrome type 22.

Whole blood (3–5 ml in EDTA tube) or buccal swab 3–4 weeks 2,800.00 AED
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View test specifications and preparation
What it measures
["Pathogenic variants in the PDE6D gene", "Single-nucleotide variants", "Indels", "Copy-number changes"]
Parameters
[]
Preparation
["Pre-test genetic counseling is mandatory", "Written informed consent required"]
Indications
["Clinical features suggestive of Joubert syndrome", "Family history of PDE6D mutation", "Carrier screening", "Prenatal planning"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 81247-9 ICD-10: Q04.3
Clinical summary
This test identifies pathogenic variants in the PDE6D gene associated with Joubert syndrome type 22.
TEST-4752
PDHA1 Gene (Leigh Syndrome, X-Linked) Genetic Test

This test identifies pathogenic variants in the PDHA1 gene to confirm X-linked Leigh syndrome.

Peripheral Whole Blood, Extracted DNA, or FTA Card Blood Spot 3 to 4 Weeks 2,800.00 AED
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View test specifications and preparation
What it measures
["Pathogenic variants in the PDHA1 gene", "Single nucleotide variants", "Small indels", "Copy number changes"]
Parameters
[]
Preparation
["A genetic counseling session to construct a three-generation pedigree and review family history is mandatory before sample collection."]
Indications
["Clinical suspicion of Leigh syndrome", "At-risk family members following positive genetic counseling"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 82272-8 ICD-10: G31.82
Clinical summary
This test identifies pathogenic variants in the PDHA1 gene to confirm X-linked Leigh syndrome.
TEST-4127
PDSS1 Gene Coenzyme Q10 Deficiency Type 2 Genetic Test

This test identifies pathogenic variants in the PDSS1 gene associated with primary coenzyme Q10 deficiency type 2.

Whole Blood, Extracted DNA, FTA Card 3–4 Weeks 2,800.00 AED
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View test specifications and preparation
What it measures
["Pathogenic variants in the PDSS1 gene", "Coenzyme Q10 biosynthesis pathway disruption"]
Parameters
[]
Preparation
["No specific fasting required", "Inform physician about all medications and supplements"]
Indications
["Suspected primary coenzyme Q10 deficiency type 2", "Diagnosis of severe neurological disorders", "Family planning and carrier screening for CoQ10 deficiency type 2"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 84318-7 ICD-10: E88.4, R94.8
Clinical summary
This test identifies pathogenic variants in the PDSS1 gene associated with primary coenzyme Q10 deficiency type 2.
TEST-5881
PEX16 Gene Zellweger Syndrome Genetic Test

This genetic test analyzes the PEX16 gene to identify pathogenic variants associated with Zellweger spectrum disorders.

Whole blood (EDTA) or extracted DNA 3–4 Weeks 2,800.00 AED
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What it measures
["PEX16 gene variants", "Pathogenic mutations"]
Parameters
[]
Preparation
[]
Indications
["Suspected Zellweger spectrum disorder", "Developmental delay with peroxisomal abnormality", "Family history of peroxisomal biogenesis disorders"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 92746-0 ICD-10: E71.510
Clinical summary
This genetic test analyzes the PEX16 gene to identify pathogenic variants associated with Zellweger spectrum disorders.
TEST-2399
PEX5 Gene Rhizomelic Chondrodysplasia Punctata Type 5 Genetic Test

This genetic test identifies pathogenic variants in the PEX5 gene associated with Rhizomelic Chondrodysplasia Punctata Type 5 (RCDP5).

Peripheral Whole Blood, FTA Card Spot, or Extracted DNA 3–4 weeks 2,800.00 AED
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What it measures
["Pathogenic variants in the PEX5 gene", "Peroxisomal protein import function"]
Parameters
[]
Preparation
["No specific fasting required.", "Inform the lab of any medications being taken."]
Indications
["Suspected Rhizomelic Chondrodysplasia Punctata Type 5 (RCDP5)", "Family history of RCDP5", "Need for definitive molecular diagnosis for prognosis and management"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 47875-4 ICD-10: E71.510
Clinical summary
This genetic test identifies pathogenic variants in the PEX5 gene associated with Rhizomelic Chondrodysplasia Punctata Type 5 (RCDP5).
TEST-5879
PHGDH Gene Phosphoglycerate Dehydrogenase Deficiency Genetic Test

This test identifies mutations in the PHGDH gene responsible for phosphoglycerate dehydrogenase deficiency.

Whole Blood, Extracted DNA, or One Drop of Blood on FTA Card 3–4 Weeks 2,800.00 AED
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What it measures
["PHGDH gene sequence variants", "Copy number variations in PHGDH gene"]
Parameters
[]
Preparation
["No fasting required", "Inform phlebotomist about recent transfusions"]
Indications
["Suspected phosphoglycerate dehydrogenase deficiency", "Family history of PHGDH deficiency", "Unexplained neurological symptoms"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 94219-4 ICD-10: E72.89
Clinical summary
This test identifies mutations in the PHGDH gene responsible for phosphoglycerate dehydrogenase deficiency.
TEST-5833
PHYH Gene Refsum Disease Genetic Test

This test evaluates the entire coding region of the PHYH gene for pathogenic variants associated with Refsum disease.

Whole Blood (EDTA) or Dried Blood Spot 3–4 Weeks 2,800.00 AED
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View test specifications and preparation
What it measures
["PHYH gene sequence", "Pathogenic variants (SNVs, indels)"]
Parameters
[]
Preparation
["Genetic counselling session recommended", "Draw a three-generation pedigree chart"]
Indications
["Suspected Refsum disease", "Familial cascade testing"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 21673-7 ICD-10: E71.420
Clinical summary
This test evaluates the entire coding region of the PHYH gene for pathogenic variants associated with Refsum disease.
TEST-2428
PI4KA Gene Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and Arthrogryposis Genetic Test

This genetic test analyzes the PI4KA gene for pathogenic variants causing a rare brain malformation syndrome.

Whole Blood (EDTA), Extracted DNA, or FTA Card 3–4 Weeks 2,800.00 AED
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View test specifications and preparation
What it measures
["Pathogenic variants in the PI4KA gene", "Coding region and conserved splice sites"]
Parameters
[]
Preparation
["No special preparation such as fasting is required", "Stay well hydrated on the day of collection"]
Indications
["Symptomatic children with compatible neuroimaging findings", "Family members requiring carrier or presymptomatic testing"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 82293-6 ICD-10: Q04.8
Clinical summary
This genetic test analyzes the PI4KA gene for pathogenic variants causing a rare brain malformation syndrome.
TEST-4854
PIEZO2 Gene Test

This test identifies pathogenic variants in the PIEZO2 gene associated with Marden-Walker syndrome.

Peripheral whole blood (EDTA tube), or extracted DNA 14–21 business days 2,800.00 AED
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View test specifications and preparation
What it measures
["Pathogenic variants in PIEZO2 gene", "Single nucleotide variants", "Indels", "Copy number alterations"]
Parameters
[]
Preparation
[]
Indications
["Clinical suspicion of Marden-Walker syndrome", "Carrier screening", "Confirmation of prenatal findings"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 21636-6 ICD-10: Q87.0
Clinical summary
This test identifies pathogenic variants in the PIEZO2 gene associated with Marden-Walker syndrome.
TEST-2977
PIGL Gene CHIME Syndrome Genetic Test

This test analyzes the PIGL gene to detect pathogenic variants associated with CHIME syndrome.

Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot 21–28 Calendar Days 2,800.00 AED
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View test specifications and preparation
What it measures
["PIGL gene sequence", "Copy number variants in PIGL gene"]
Parameters
[]
Preparation
["No specific fasting required", "Do not discontinue prescribed medications without consulting your doctor"]
Indications
["Clinical suspicion of CHIME syndrome", "Family members of a confirmed proband"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 48004-6 ICD-10: Q87.8
Clinical summary
This test analyzes the PIGL gene to detect pathogenic variants associated with CHIME syndrome.
TEST-2728
PIGV Gene Hyperphosphatasia with Mental Retardation Syndrome Type 1 (Mabry Syndrome) Genetic Test

This test identifies pathogenic variants in the PIGV gene, confirming a diagnosis of Mabry Syndrome (Hyperphosphatasia with Mental Retardation Syndrome Type 1).

Peripheral whole blood, FTA card, or extracted DNA 3–4 weeks 2,800.00 AED
View
View test specifications and preparation
What it measures
["Pathogenic variants in the PIGV gene", "Presence of mutations causing Mabry Syndrome"]
Parameters
[]
Preparation
["No specific fasting required", "No medication or diet modifications needed prior to sample collection"]
Indications
["Clinical suspicion of Mabry syndrome", "Confirmed family history of Mabry syndrome"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 81248-2 ICD-10: Q87.8, E83.39, Z15.89
Clinical summary
This test identifies pathogenic variants in the PIGV gene, confirming a diagnosis of Mabry Syndrome (Hyperphosphatasia with Mental Retardation Syndrome Type 1).
TEST-3604
PITPNM3 Gene Cone-Rod Dystrophy Type 5 Genetic Test

This genetic test evaluates the PITPNM3 gene for mutations linked to autosomal recessive cone-rod dystrophy type 5.

Whole Blood (EDTA) 3–4 Weeks 2,800.00 AED
View
View test specifications and preparation
What it measures
["Pathogenic variants in the PITPNM3 gene"]
Parameters
[]
Preparation
["No specific fasting required", "Avoid recent blood transfusions or bone marrow transplants"]
Indications
["Suspected diagnosis of cone-rod dystrophy type 5", "Family history of cone-rod dystrophy", "Carrier screening"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 21636-6 ICD-10: H35.54
Clinical summary
This genetic test evaluates the PITPNM3 gene for mutations linked to autosomal recessive cone-rod dystrophy type 5.

Category overview

Single Gene: overview

When clinical symptoms or family history point directly toward a specific inherited condition, highly focused genetic testing provides the exact, rapid insights necessary for peace of mind. Integrated into our advanced Molecular Genetics services, Single Gene testing meticulously analyzes one specific gene for known disease-causing mutations. Utilizing cutting-edge diagnostic technology, this highly focused molecular screening helps confirm or rule out precise genetic traits, safely guiding targeted medical interventions and family planning strategies. Recognized for specialized diagnostic excellence among diagnostic labs in the UAE, DNA Labs ensures absolute patient confidentiality, exceptional analytical precision, and incredibly efficient turnaround times. Take an informed step forward in your health journey—schedule your single gene testing in UAE, book a secure home sample collection, or reach out to our expert medical professionals.

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.