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 31–45 of 133 matching tests.

Single Gene Disorders diagnostic tests, details, and listed prices
Test and description	Specimen	Typical duration	Price	Options
TEST-2368 EP300 Gene Rubinstein-Taybi Syndrome Genetic Test This test identifies pathogenic variants within the EP300 gene, confirming a diagnosis of Rubinstein-Taybi syndrome.	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 EP300 gene", "Single-nucleotide variants", "Copy-number variants"] Parameters [] Preparation ["Inform genetic counsellor of current therapies before sample collection"] Indications ["Suspected Rubinstein-Taybi syndrome based on clinical features", "Family history of Rubinstein-Taybi syndrome"] Measurement technique Confirm with laboratory Codes LOINC: 21649-3 ICD-10: Q87.2 Clinical summary This test identifies pathogenic variants within the EP300 gene, confirming a diagnosis of Rubinstein-Taybi syndrome.
TEST-4901 EPB41L1 Gene-Related Autosomal Dominant Intellectual Disability Type 11 (MRD11) Genetic Test This genetic test identifies mutations in the EPB41L1 gene associated with Autosomal Dominant Intellectual Disability Type 11 (MRD11). It analyzes the gene's coding regions and spl...	Peripheral Whole Blood (EDTA)	21–28 Business Days	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic single nucleotide variants in EPB41L1", "Small insertions/deletions in EPB41L1", "Copy number variations in EPB41L1"] Parameters [] Preparation [] Indications ["Suspected Autosomal Dominant Intellectual Disability Type 11 (MRD11)", "Intellectual disability of unknown cause"] Measurement technique Confirm with laboratory Codes LOINC: 21636-6 ICD-10: F70 Clinical summary This genetic test identifies mutations in the EPB41L1 gene associated with Autosomal Dominant Intellectual Disability Type 11 (MRD11). It analyzes the gene's coding regions and splice junctions for pathogenic variants.
TEST-4482 ERCC2 Gene Xeroderma Pigmentosum, Group D Genetic Test This test identifies pathogenic variants in the ERCC2 gene associated with Xeroderma pigmentosum group D.	Peripheral whole blood (2 mL EDTA), extracted DNA (min 1 µg), 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 the ERCC2 gene", "Mutations causing Xeroderma pigmentosum group D"] Parameters [] Preparation ["No fasting required", "Patients may continue prescribed medications unless otherwise instructed by their physician"] Indications ["Clinical suspicion of Xeroderma pigmentosum group D", "Family history of Xeroderma pigmentosum", "Need for genetic confirmation for management planning"] Measurement technique Confirm with laboratory Codes LOINC: 92822-6 ICD-10: Q82.1 Clinical summary This test identifies pathogenic variants in the ERCC2 gene associated with Xeroderma pigmentosum group D.
TEST-2986 ERCC6 Gene Cerebrooculofacioskeletal Syndrome Type 1 Genetic Test This test identifies pathogenic variants in the ERCC6 gene to diagnose Cerebrooculofacioskeletal Syndrome type 1 (COFS1).	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 ERCC6 gene"] Parameters [] Preparation ["Detailed clinical history and a three-generation pedigree chart required", "Mandatory pre-test genetic counselling session required"] Indications ["Infants or children presenting with dysmorphology and developmental delay", "Family history suggestive of COFS1"] Measurement technique Confirm with laboratory Codes LOINC: 82989-0 ICD-10: Q87.0, Z13.71 Clinical summary This test identifies pathogenic variants in the ERCC6 gene to diagnose Cerebrooculofacioskeletal Syndrome type 1 (COFS1).
TEST-4736 FKRP Gene Limb‑Girdle Muscular Dystrophy, Autosomal Recessive Type 2I Genetic Test This genetic test analyzes the FKRP gene to identify mutations causing Limb-Girdle Muscular Dystrophy Type 2I.	Peripheral Whole Blood or Dried 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 FKRP gene", "Exons and splice sites of the FKRP gene"] Parameters [] Preparation ["No specific fasting required", "No medication or diet restrictions"] Indications ["Suspected clinical diagnosis of LGMD2I", "Family history of LGMD2I", "Carrier testing", "Prenatal diagnosis"] Measurement technique Confirm with laboratory Codes LOINC: 98116-2 ICD-10: G71.0 Clinical summary This genetic test analyzes the FKRP gene to identify mutations causing Limb-Girdle Muscular Dystrophy Type 2I.
TEST-5540 FLNA Gene Otopaladigital Syndrome Type 2 Genetic Test This test identifies pathogenic variants within the FLNA gene associated with Otopaladigital syndrome type 2.	Peripheral whole blood	3 to 4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["FLNA gene coding region", "FLNA gene splice sites", "Pathogenic variants (SNVs, indels, CNVs)"] Parameters [] Preparation [] Indications ["Suspected Otopaladigital syndrome type 2", "Family history of OPD2", "Genetic counselling for family planning"] Measurement technique Confirm with laboratory Codes LOINC: 55233-1 ICD-10: Q87.0 Clinical summary This test identifies pathogenic variants within the FLNA gene associated with Otopaladigital syndrome type 2.
TEST-5352 FLNB Gene Atelosteogenesis Type 3 Next-Generation Sequencing (NGS) Genetic Test This test detects pathogenic variants in the FLNB gene associated with autosomal dominant atelosteogenesis type 3.	Whole blood (EDTA), genomic DNA (≥1 μg), or FTA card	14–21 working days	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in FLNB gene coding exons and exon-intron boundaries"] Parameters [] Preparation ["No special preparation required"] Indications ["Suspected diagnosis of atelosteogenesis type 3", "Differential diagnosis of osteochondrodysplasias", "Genetic counseling for families with skeletal dysplasia"] Measurement technique Confirm with laboratory Codes LOINC: 54236-7 ICD-10: Q77.3 Clinical summary This test detects pathogenic variants in the FLNB gene associated with autosomal dominant atelosteogenesis type 3.
TEST-3460 FOXF2 Gene Genetic Test for Disorders of Sex Development with Cleft Palate This test evaluates the FOXF2 gene for pathogenic variants associated with disorders of sex development and cleft palate.	Peripheral blood or dried blood spot	3–4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["FOXF2 gene sequence", "Pathogenic variants in FOXF2"] Parameters [] Preparation ["No specific fasting required", "Inform phlebotomist of any medications"] Indications ["Disorders of Sex Development (DSD)", "Cleft Palate", "Ambiguous genitalia", "Gonadal dysgenesis"] Measurement technique Confirm with laboratory Codes LOINC: 62374-4 ICD-10: Q87.8, Q56.4, Q35.9 Clinical summary This test evaluates the FOXF2 gene for pathogenic variants associated with disorders of sex development and cleft palate.
TEST-4872 FOXP3 Gene Immunodysregulation, Polyendocrinopathy, and Enteropathy, X‑Linked Genetic Test This genetic test analyzes the FOXP3 gene to identify pathogenic variants associated with X-linked Immunodysregulation, Polyendocrinopathy, and Enteropathy (IPEX) syndrome.	Peripheral Whole Blood (EDTA tube), 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 ["Pathogenic variants in the FOXP3 gene", "Single-nucleotide variants", "Small insertions/deletions", "Splice-site alterations"] Parameters [] Preparation ["No fasting or special preparation needed", "Pre-test genetic counselling is mandatory"] Indications ["Suspected IPEX syndrome", "Male infants/children with classical triad", "Suspected X-linked inheritance pattern"] Measurement technique Confirm with laboratory Codes LOINC: 98979-9 ICD-10: E31.0 Clinical summary This genetic test analyzes the FOXP3 gene to identify pathogenic variants associated with X-linked Immunodysregulation, Polyendocrinopathy, and Enteropathy (IPEX) syndrome.
TEST-2838 FRAS1 Gene (Fraser Syndrome) Genetic Test This test evaluates the FRAS1 gene for pathogenic variants associated with Fraser syndrome.	Whole Blood (EDTA) or Dried Blood Spot (FTA card)	21–28 business days	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["FRAS1 gene sequence", "Copy number variations in FRAS1 gene"] Parameters [] Preparation ["Genetic counselling is mandatory before testing", "Ensure informed consent and pedigree documentation"] Indications ["Individuals with clinical features suggestive of Fraser syndrome", "Couples with a family history of Fraser syndrome", "Prenatal cases with ultrasound anomalies"] Measurement technique Confirm with laboratory Codes LOINC: 85403-8 ICD-10: Q87.0 Clinical summary This test evaluates the FRAS1 gene for pathogenic variants associated with Fraser syndrome.
TEST-6385 FUCA1 Gene Fucosidosis Genetic Test This genetic test analyzes the FUCA1 gene to identify mutations associated with fucosidosis, a rare lysosomal storage disorder.	Peripheral whole blood, FTA card dried blood 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 ["Single nucleotide variants in FUCA1 gene", "Indels in FUCA1 gene", "Copy number changes in FUCA1 gene"] Parameters [] Preparation ["No special fasting required"] Indications ["Clinical suspicion of fucosidosis", "Family history of fucosidosis", "Carrier screening", "Prenatal diagnosis"] Measurement technique Confirm with laboratory Codes LOINC: 69047-9 ICD-10: E77.1 Clinical summary This genetic test analyzes the FUCA1 gene to identify mutations associated with fucosidosis, a rare lysosomal storage disorder.
TEST-6176 FXYD2 Gene Hypomagnesemia Type 2 Genetic Test This test evaluates the FXYD2 gene for mutations associated with autosomal dominant renal hypomagnesemia type 2.	Whole Blood (EDTA) / DNA FTA Card / Extracted DNA	3 to 4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["FXYD2 gene sequence", "Single-nucleotide variants (SNVs)", "Insertions/Deletions (Indels)", "Copy-number changes"] Parameters [] Preparation ["No fasting required", "Genetic counselling session required prior to sample collection"] Indications ["Suspected autosomal dominant renal hypomagnesemia type 2", "Recurrent or persistent hypomagnesemia", "Family history of hypomagnesemia"] Measurement technique Confirm with laboratory Codes LOINC: 104020-1 ICD-10: E83.42, N25.8 Clinical summary This test evaluates the FXYD2 gene for mutations associated with autosomal dominant renal hypomagnesemia type 2.
TEST-5759 G6PC Gene (Von Gierke Disease) Genetic Test This test evaluates the G6PC gene for pathogenic variants associated with Glycogen Storage Disease Type Ia (Von Gierke disease). It identifies mutations causing defects in glucose...	Whole Blood (EDTA), Buccal Swab, 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 G6PC gene", "Single Nucleotide Variants (SNVs)", "Insertions/Deletions (Indels)", "Copy Number Variants (CNVs)"] Parameters [] Preparation ["No specific fasting required for blood or buccal swab samples.", "Ensure proper sample collection and labeling.", "Pre-test genetic counseling is mandatory."] Indications ["Suspected diagnosis of Glycogen Storage Disease Type Ia", "Family history of Von Gierke disease", "Carrier screening in at-risk individuals", "Prenatal diagnosis"] Measurement technique Confirm with laboratory Codes LOINC: 81265-6 ICD-10: E74.01 Clinical summary This test evaluates the G6PC gene for pathogenic variants associated with Glycogen Storage Disease Type Ia (Von Gierke disease). It identifies mutations causing defects in glucose metabolism.
TEST-6391 Galactosialidosis Genetic Test (CTSA Gene Sequencing) This test evaluates the CTSA gene for pathogenic variants associated with galactosialidosis.	Whole blood (EDTA), extracted DNA, or DNA FTA card	3–4 weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["CTSA gene pathogenic variants", "Copy number variants in CTSA gene"] Parameters [] Preparation ["Genetic counselling session is mandatory.", "Provide a complete clinical history.", "No fasting is required."] Indications ["Suspected diagnosis of galactosialidosis", "Family history of galactosialidosis", "Genetic counselling for affected families"] Measurement technique Confirm with laboratory Codes LOINC: 97370-3 ICD-10: E77.1 Clinical summary This test evaluates the CTSA gene for pathogenic variants associated with galactosialidosis.
TEST-4529 GCSH Gene Glycine Encephalopathy Genetic Test This test detects pathogenic variants in the GCSH gene, providing a molecular diagnosis for nonketotic hyperglycinemia (NKH).	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 ["Pathogenic variants in the GCSH gene", "Glycine cleavage system H protein gene sequence"] Parameters [] Preparation ["No special preparation such as fasting is required.", "A detailed clinical history and pre-test genetic counselling session are required."] Indications ["Suspected nonketotic hyperglycinemia (NKH)", "Family history of NKH", "Neonatal screening suggestive of NKH"] Measurement technique Confirm with laboratory Codes LOINC: 82325-9 ICD-10: E72.51 Clinical summary This test detects pathogenic variants in the GCSH gene, providing a molecular diagnosis for nonketotic hyperglycinemia (NKH).

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.