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Diagnostic options · UAE

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 76–90 of 136 matching tests.

Genetic Disorders diagnostic tests, details, and listed prices
Test and description Specimen Typical duration Price Options
TEST-4034
KANK1 Gene Cerebral Palsy (Spastic Quadriplegic) Genetic Test

This test identifies pathogenic variants in the KANK1 gene associated with autosomal recessive spastic quadriplegic cerebral palsy type 2.

Peripheral whole blood (2–3 mL) or dried blood spot on FTA card 14 to 28 calendar days 2,800.00 AED
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What it measures
["KANK1 gene variants", "Copy number variants in KANK1"]
Parameters
[]
Preparation
["No special preparation such as fasting is needed."]
Indications
["Suspected KANK1-related cerebral palsy", "Family history suggestive of KANK1-related cerebral palsy"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 92822-6 ICD-10: G80.0
Clinical summary
This test identifies pathogenic variants in the KANK1 gene associated with autosomal recessive spastic quadriplegic cerebral palsy type 2.
TEST-6063
LMNA Gene Lipodystrophy Type 2, Familial Partial Genetic Test

This test identifies pathogenic variants in the LMNA gene associated with familial partial lipodystrophy type 2 (FPLD2).

Peripheral whole blood 3–4 weeks 2,800.00 AED
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What it measures
["LMNA gene sequence", "Pathogenic variants"]
Parameters
[]
Preparation
["No fasting required"]
Indications
["Confirm diagnosis of FPLD2", "Guide therapy (leptin replacement)", "Assess cardiovascular risk", "Family cascade screening"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 55233-1 ICD-10: E88.1
Clinical summary
This test identifies pathogenic variants in the LMNA gene associated with familial partial lipodystrophy type 2 (FPLD2).
TEST-6170
LPL Gene Hyperlipoproteinemia Type 1 Genetic Test

This test detects pathogenic variants in the LPL gene associated with familial chylomicronemia syndrome and severe hypertriglyceridemia.

Whole Blood (EDTA) or FTA Card 3–4 Weeks 2,800.00 AED
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What it measures
["Pathogenic variants in the LPL gene", "Genetic predisposition to severe hypertriglyceridemia"]
Parameters
[]
Preparation
["No specific fasting required", "Continue all prescribed medications unless directed otherwise by a physician"]
Indications
["Diagnosis of suspected Type 1 hyperlipoproteinemia", "Family cascade screening for LPL gene variants", "Evaluation of severe hypertriglyceridemia unresponsive to standard therapy"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 21636-6 ICD-10: E78.3
Clinical summary
This test detects pathogenic variants in the LPL gene associated with familial chylomicronemia syndrome and severe hypertriglyceridemia.
TEST-4664
LRP5 Gene Osteoporosis‑Pseudoglioma Syndrome DNA Test (NGS)

This diagnostic test evaluates the LRP5 gene for pathogenic variants associated with autosomal recessive osteoporosis‑pseudoglioma syndrome (OPPG). It detects single nucleotide var...

Whole blood (EDTA), extracted DNA, FTA card 3–4 weeks 2,800.00 AED
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What it measures
["Pathogenic variants in the LRP5 gene", "Single nucleotide variants", "Copy number alterations"]
Parameters
[]
Preparation
["Fasting is not required.", "A clinical history and pedigree chart must be provided prior to testing."]
Indications
["Clinical suspicion of osteoporosis‑pseudoglioma syndrome (OPPG)", "Family history of OPPG", "Need for definitive diagnosis", "Family cascade screening", "Reproductive planning"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 81246-7 ICD-10: M89.8
Clinical summary
This diagnostic test evaluates the LRP5 gene for pathogenic variants associated with autosomal recessive osteoporosis‑pseudoglioma syndrome (OPPG). It detects single nucleotide variants and copy number alterations.
TEST-5458
MASP1 Gene 3MC Syndrome Type 1 Genetic Test (NGS)

This test evaluates the MASP1 gene for variants associated with 3MC syndrome type 1.

Whole Blood (Peripheral) 3 to 4 Weeks 2,800.00 AED
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What it measures
["Pathogenic variants in the MASP1 gene", "Likely pathogenic variants in the MASP1 gene"]
Parameters
[]
Preparation
[]
Indications
["Suspected 3MC syndrome type 1", "Individuals with craniofacial clefting, skin pits, immune deficiency, and skeletal abnormalities"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 94041-1 ICD-10: Q87.8
Clinical summary
This test evaluates the MASP1 gene for variants associated with 3MC syndrome type 1.
TEST-4459
MGAT2 Gene Glycosylation Disorder Type 2A Genetic Test

This test identifies pathogenic variants in the MGAT2 gene, confirming a diagnosis of congenital disorder of glycosylation type IIa (CDG-IIa).

Peripheral Whole Blood (EDTA) or FTA Card 3–4 Weeks 2,800.00 AED
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What it measures
["Pathogenic variants in the MGAT2 gene", "Protein glycosylation defects"]
Parameters
[]
Preparation
["No special preparation required"]
Indications
["Clinical suspicion of congenital disorder of glycosylation", "Unexplained developmental delay", "Carrier testing in families with known MGAT2 mutation", "Prenatal diagnosis in at-risk pregnancies"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 51966-7 ICD-10: E77.8
Clinical summary
This test identifies pathogenic variants in the MGAT2 gene, confirming a diagnosis of congenital disorder of glycosylation type IIa (CDG-IIa).
TEST-5495
MID1 Gene Opitz G/BBB Syndrome Genetic Test

This genetic test analyzes the MID1 gene to identify pathogenic variants associated with Opitz G/BBB syndrome.

Whole blood (EDTA), extracted DNA (≥2 µg), or dried blood spot (FTA card) 3–4 Weeks 2,800.00 AED
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What it measures
["MID1 gene variants", "Single nucleotide variants", "Small insertions/deletions", "Copy number variations"]
Parameters
[]
Preparation
[]
Indications
["Children with suggestive clinical features", "Positive family history of Opitz G/BBB syndrome"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 82939-0 ICD-10: Q87.89, Q87.0, Z13.7
Clinical summary
This genetic test analyzes the MID1 gene to identify pathogenic variants associated with Opitz G/BBB syndrome.
TEST-3912
MKS1 Gene Bardet-Biedl Syndrome Type 13 Genetic Test

This test detects pathogenic variants in the MKS1 gene associated with Bardet-Biedl syndrome type 13.

Whole Blood, Dried Blood Spot on FTA Card, or Previously Extracted DNA 3–4 Weeks 2,800.00 AED
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What it measures
["Pathogenic variants in MKS1 gene"]
Parameters
[]
Preparation
["Pre-test genetic counselling session is mandatory", "Do not discontinue prescribed medication without consulting your doctor"]
Indications
["Diagnosis of Bardet-Biedl syndrome type 13", "Family planning", "Proactive clinical management"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 92748-5 ICD-10: Q87.8
Clinical summary
This test detects pathogenic variants in the MKS1 gene associated with Bardet-Biedl syndrome type 13.
TEST-5956
MOCS2 Gene Molybdenum Cofactor Deficiency Type B Genetic Test

This test identifies pathogenic variants in the MOCS2 gene associated with Molybdenum Cofactor Deficiency Type B.

Peripheral Whole Blood, Extracted DNA, or FTA Card 3 – 4 weeks 2,800.00 AED
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What it measures
["Pathogenic variants in the MOCS2 gene", "Copy Number Variations (CNV) in the MOCS2 gene"]
Parameters
[]
Preparation
[]
Indications
["Suspected Molybdenum Cofactor Deficiency Type B based on clinical presentation", "Family history of Molybdenum Cofactor Deficiency Type B", "Carrier screening"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 52297-8 ICD-10: E83.1
Clinical summary
This test identifies pathogenic variants in the MOCS2 gene associated with Molybdenum Cofactor Deficiency Type B.
TEST-6129
MTO1 Gene Combined Oxidative Phosphorylation Deficiency Type 10 (COXPD10) Genetic Test

This genetic test identifies pathogenic mutations in the MTO1 gene, confirming a diagnosis of Combined Oxidative Phosphorylation Deficiency Type 10.

Whole Blood (peripheral venipuncture) 3–4 Weeks 2,800.00 AED
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What it measures
["MTO1 gene coding region variants", "Pathogenic mutations"]
Parameters
[]
Preparation
["No fasting required", "No special preparation required"]
Indications
["Suspected Combined Oxidative Phosphorylation Deficiency Type 10", "Family history of mitochondrial disorders", "Carrier screening"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 82939-0 ICD-10: E88.49
Clinical summary
This genetic test identifies pathogenic mutations in the MTO1 gene, confirming a diagnosis of Combined Oxidative Phosphorylation Deficiency Type 10.
TEST-5247
MYO5B Gene Diarrhea Type 2 with Microvillus Atrophy Genetic Test

This genetic test analyzes the MYO5B gene to detect variants causing microvillus inclusion disease, a severe form of congenital diarrhea.

Peripheral Whole Blood (EDTA), Extracted Genomic DNA (≥1 µg), or FTA Card Spot 21–28 Calendar Days 2,800.00 AED
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What it measures
["Pathogenic variants in the MYO5B gene", "Single nucleotide variants", "Small insertions and deletions"]
Parameters
[]
Preparation
["A detailed clinical history, including stool output and growth parameters, must accompany the test requisition.", "Informed consent for genetic testing must be signed prior to sample collection.", "No fasting is required for blood collection; samples may be drawn at any time.", "If anticoagulant therapy is ongoing, the phlebotomist must be notified."]
Indications
["Infants presenting with intractable diarrhea of infancy after exclusion of infectious, allergic, and metabolic etiologies", "Families with a history of early-onset unexplained diarrhea", "Consanguineous unions with suspected autosomal recessive inheritance", "Carrier screening for at-risk adult relatives"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 82308-7 ICD-10: Q43.8
Clinical summary
This genetic test analyzes the MYO5B gene to detect variants causing microvillus inclusion disease, a severe form of congenital diarrhea.
TEST-2731
Next-Generation Sequencing (NGS): Canavan Disease Test

This test identifies mutations within the ASPA gene associated with Canavan disease.

Peripheral Whole Blood (Lavender Top EDTA Tube) 40 Working Days 2,600.00 AED
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What it measures
["ASPA gene mutations", "Aspartoacylase deficiency"]
Parameters
[]
Preparation
["No specific fasting required", "Inform the lab of any recent blood transfusions"]
Indications
["Clinical suspicion of Canavan disease", "Family history of Canavan disease", "Neonatal screening follow-up", "Carrier screening in at-risk populations"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 94772-7 ICD-10: E75.2
Clinical summary
This test identifies mutations within the ASPA gene associated with Canavan disease.
TEST-3607
NPHP3 Gene Nephronophthisis Type 3 Genetic Test

This genetic test identifies pathogenic variants in the NPHP3 gene associated with nephronophthisis type 3.

Peripheral whole blood (5 mL EDTA tube) 3 to 4 Weeks 2,800.00 AED
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View test specifications and preparation
What it measures
["Pathogenic variants in the NPHP3 gene", "Single nucleotide variants", "Indels", "Copy number changes"]
Parameters
[]
Preparation
[]
Indications
["Family history of nephronophthisis", "Unexplained renal cysts", "Liver fibrosis", "Early-onset renal failure of unclear etiology"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 88615-4 ICD-10: Q61.11
Clinical summary
This genetic test identifies pathogenic variants in the NPHP3 gene associated with nephronophthisis type 3.
TEST-2729
Nx Gen Sequencing: Episodic Ataxia Test

This test identifies genetic mutations associated with episodic ataxia types 1, 2, and related inherited ataxias.

Peripheral whole blood 40 working days 2,600.00 AED
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What it measures
["Mutations in CACNA1A gene", "Mutations in KCNA1 gene", "Mutations in related ataxia genes"]
Parameters
[]
Preparation
["No specific fasting required", "Do not discontinue prescribed medications without doctor's advice"]
Indications
["Suspected episodic ataxia type 1 or 2", "Family history of episodic ataxia", "Neurological symptoms suggestive of inherited ataxia"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 81331-4 ICD-10: G11.8
Clinical summary
This test identifies genetic mutations associated with episodic ataxia types 1, 2, and related inherited ataxias.
TEST-5195
PARN Gene Dyskeratosis Congenita (Autosomal Recessive Type 6) Genetic Test

This genetic test identifies pathogenic variants in the PARN gene associated with Dyskeratosis Congenita autosomal recessive type 6.

Peripheral Whole Blood (EDTA) or Saliva (Oragene DNA Kit) 3–4 Weeks 2,800.00 AED
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View test specifications and preparation
What it measures
["Pathogenic variants in PARN gene exons and splice sites"]
Parameters
[]
Preparation
["No specific fasting required", "Inform lab of any relevant family history"]
Indications
["Suspected Dyskeratosis Congenita", "Family history of Dyskeratosis Congenita", "Clinical features suggestive of bone marrow failure syndrome"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 100203-7 ICD-10: Q82.8
Clinical summary
This genetic test identifies pathogenic variants in the PARN gene associated with Dyskeratosis Congenita autosomal recessive type 6.

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.

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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.