Single Gene Disorder tests in Dubai & UAE

Compare available Single Gene Disorder tests, their listed prices and the information provided for each option. Test selection and preparation should be discussed with your clinician.

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Listed price range

2,800.00 AED

Clinical preparation

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Single Gene Disorder test prices

Showing 16–30 of 72 matching tests.

Single Gene Disorder diagnostic tests, details, and listed prices
Test and description	Specimen	Typical duration	Price	Options
TEST-2243 C12orf57 Gene Temtamy Syndrome Genetic Test This test analyzes the C12orf57 gene to identify mutations associated with Temtamy syndrome.	Peripheral Whole Blood (EDTA) 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 ["C12orf57 gene sequence", "Mutations within the C12orf57 coding region"] Parameters [] Preparation ["No fasting required", "Continue all prescribed medications and supplements", "Written parental consent required for minors"] Indications ["Suspected Temtamy syndrome based on clinical features", "Confirmation of diagnosis"] Measurement technique Confirm with laboratory Codes LOINC: 94222-3 ICD-10: Q87.8 Clinical summary This test analyzes the C12orf57 gene to identify mutations associated with Temtamy syndrome.
TEST-2353 CENPJ Gene Seckel Syndrome Type 4 Genetic Test This test identifies pathogenic variants in the CENPJ gene associated with Seckel syndrome type 4.	Whole Blood (EDTA), Extracted DNA, or FTA Card	3–4 weeks from sample receipt	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the CENPJ gene", "Single nucleotide variants", "Insertions/deletions", "Copy number variants"] Parameters [] Preparation ["No fasting required", "Report recent blood transfusions"] Indications ["Suspected Seckel syndrome type 4", "Pediatric cases with characteristic features", "Recurrence risk assessment", "Family planning"] Measurement technique Confirm with laboratory Codes LOINC: 95209-3 ICD-10: Q87.1 Clinical summary This test identifies pathogenic variants in the CENPJ gene associated with Seckel syndrome type 4.
TEST-6119 CLDN16 Gene Hypomagnesemia Type 3 Genetic Test This test identifies genetic mutations in the CLDN16 gene associated with familial hypomagnesemia type 3.	Whole Blood, 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 ["CLDN16 gene sequence", "Pathogenic variants (SNVs, indels, CNVs)"] Parameters [] Preparation ["No specific fasting required", "Inform lab of any current medications"] Indications ["Suspected familial hypomagnesemia type 3", "Unexplained childhood hypomagnesemia", "Recurrent seizures", "Growth delay"] Measurement technique Confirm with laboratory Codes LOINC: 94838-1 ICD-10: E83.42, E83.40, E83.41, E83.49 Clinical summary This test identifies genetic mutations in the CLDN16 gene associated with familial hypomagnesemia type 3.
TEST-5169 COA8 Gene Genetic Test for Mitochondrial Complex IV Deficiency This test evaluates the COA8 gene for pathogenic variants associated with mitochondrial complex IV deficiency.	Peripheral Whole Blood or FTA Card Spot	3–4 weeks from sample receipt	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["COA8 gene coding region variants", "Pathogenic DNA variants"] Parameters [] Preparation ["No specific fasting required", "Inform phlebotomist of all medications"] Indications ["Suspected mitochondrial complex IV deficiency", "Family history of mitochondrial disorders", "Neurological symptoms of unknown origin"] Measurement technique Confirm with laboratory Codes LOINC: 96519-4 ICD-10: E88.89 Clinical summary This test evaluates the COA8 gene for pathogenic variants associated with mitochondrial complex IV deficiency.
TEST-2345 COL2A1 Gene Sequencing for Spondyloepiphyseal Dysplasia Congenita (SED Congenita) Test This test analyzes the entire coding sequence of the COL2A1 gene to identify pathogenic variants associated with Spondyloepiphyseal Dysplasia Congenita (SED Congenita).	Peripheral blood, extracted DNA, or FTA card (dried blood spot)	3 to 4 weeks (guaranteed maximum 4 weeks)	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["COL2A1 gene coding sequence variants", "Single nucleotide variants", "Small indels", "Exon-level deletions"] Parameters [] Preparation ["No fasting required", "Continue regular medications and diet"] Indications ["Suspected Spondyloepiphyseal Dysplasia Congenita (SED Congenita)", "Differential diagnosis of skeletal dysplasias", "Genetic counselling for families with SED Congenita"] Measurement technique Confirm with laboratory Codes LOINC: 82321-5 ICD-10: Q77.7 Clinical summary This test analyzes the entire coding sequence of the COL2A1 gene to identify pathogenic variants associated with Spondyloepiphyseal Dysplasia Congenita (SED Congenita).
TEST-5275 COL6A2 Myosclerosis, Autosomal Recessive Genetic Test This test evaluates the COL6A2 gene for pathogenic variants associated with autosomal recessive myosclerosis.	Whole Blood (EDTA), 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 ["COL6A2 gene sequence", "Pathogenic variants (SNVs, indels, CNVs)"] Parameters [] Preparation ["Genetic counselling session required", "Provide complete clinical history", "No fasting or medication changes required"] Indications ["Suspected diagnosis of autosomal recessive myosclerosis", "Family history of myosclerosis", "Differentiation from other myopathies"] Measurement technique Confirm with laboratory Codes LOINC: 69457-1 ICD-10: G71.2, Z15.81, Z13.71 Clinical summary This test evaluates the COL6A2 gene for pathogenic variants associated with autosomal recessive myosclerosis.
TEST-4649 CTSC Gene (Papillon-Lefèvre Syndrome) Genetic Test (NGS) This test evaluates the CTSC gene for pathogenic variants associated with Papillon-Lefèvre syndrome.	Peripheral Whole Blood, FTA Card Dried Blood Spot, or Extracted DNA	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 CTSC gene"] Parameters [] Preparation ["No fasting, dietary restrictions, or medication adjustments required unless instructed by physician"] Indications ["Suspected Papillon-Lefèvre syndrome", "Family history of Papillon-Lefèvre syndrome"] Measurement technique Confirm with laboratory Codes LOINC: 94045-2 ICD-10: Q82.8 Clinical summary This test evaluates the CTSC gene for pathogenic variants associated with Papillon-Lefèvre syndrome.
TEST-3233 CYB5R3 Gene Methemoglobinemia Type 1 Genetic Test This test identifies genetic variants in the CYB5R3 gene associated with congenital methemoglobinemia type 1.	Peripheral Whole Blood	14–21 Business Days	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["CYB5R3 gene variants", "Single-nucleotide variants", "Insertions", "Deletions"] Parameters [] Preparation ["Comprehensive clinical history and pedigree chart are mandatory.", "Pre-test genetic counselling session required."] Indications ["Persistent unexplained cyanosis", "Low pulse oximetry despite normal arterial blood gases", "Documented family history of congenital methemoglobinemia"] Measurement technique Confirm with laboratory Codes LOINC: 47998-5 ICD-10: D74.0 Clinical summary This test identifies genetic variants in the CYB5R3 gene associated with congenital methemoglobinemia type 1.
TEST-4578 CYP2R1 Gene Rickets, Vitamin D 25-Hydroxylation-Deficient, Type 1B Genetic Test This test identifies genetic mutations in the CYP2R1 gene responsible for Vitamin D-Dependent Rickets Type 1B.	Peripheral whole blood (3–5 mL EDTA) 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 ["CYP2R1 gene sequence", "Pathogenic variants in CYP2R1"] Parameters [] Preparation [] Indications ["Suspected Vitamin D-Dependent Rickets Type 1B", "Confirmation of genetic subtype of rickets"] Measurement technique Confirm with laboratory Codes LOINC: 81247-9 ICD-10: E83.31 Clinical summary This test identifies genetic mutations in the CYP2R1 gene responsible for Vitamin D-Dependent Rickets Type 1B.
TEST-6083 DNAJC5 Gene Genetic Test for Neuronal Ceroid Lipofuscinosis Type 4 (CLN4) This test detects pathogenic variants in the DNAJC5 gene associated with autosomal dominant neuronal ceroid lipofuscinosis type 4 (CLN4).	Whole Blood (EDTA), 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 ["DNAJC5 gene variants", "Pathogenic mutations"] Parameters [] Preparation ["No specific fasting required", "Inform phlebotomist of recent blood transfusion"] Indications ["Suspected CLN4 diagnosis", "Family history of CLN4", "Adult-onset neurodegenerative disorder"] Measurement technique Confirm with laboratory Codes LOINC: 94400-8 ICD-10: E75.49 Clinical summary This test detects pathogenic variants in the DNAJC5 gene associated with autosomal dominant neuronal ceroid lipofuscinosis type 4 (CLN4).
TEST-5840 DYNC1H1 Gene (Spinal Muscular Atrophy, Lower Extremity-Predominant Type 1, Autosomal Dominant) Genetic Test This genetic test identifies pathogenic variants in the DYNC1H1 gene associated with autosomal dominant spinal muscular atrophy with lower extremity predominance (SMALED1).	Peripheral whole blood	3–4 weeks (21–28 days)	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the DYNC1H1 gene", "Full coding region and splice sites of the DYNC1H1 gene"] Parameters [] Preparation ["No fasting required", "No specific medication or diet restrictions"] Indications ["Diagnosis of suspected SMALED1", "Genetic counseling for individuals with a family history of SMALED1", "Family planning for individuals with SMALED1 or a family history"] Measurement technique Confirm with laboratory Codes LOINC: 23866-1 ICD-10: G12.1 Clinical summary This genetic test identifies pathogenic variants in the DYNC1H1 gene associated with autosomal dominant spinal muscular atrophy with lower extremity predominance (SMALED1).
TEST-2860 EVC Gene (Ellis-van Creveld Syndrome) Genetic Test This test analyzes the entire coding region of the EVC gene to detect mutations associated with Ellis-van Creveld syndrome.	Peripheral Whole Blood, 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 ["Single-nucleotide variants in EVC gene", "Small insertions/deletions in EVC gene"] Parameters [] Preparation ["No special fasting required", "Keep child well-hydrated", "Inform phlebotomist about any bleeding disorders or medications"] Indications ["Clinical suspicion of Ellis-van Creveld syndrome", "Infants and children undergoing dysmorphology evaluation"] Measurement technique Confirm with laboratory Codes LOINC: 81247-9 ICD-10: Q77.6 Clinical summary This test analyzes the entire coding region of the EVC gene to detect mutations associated with Ellis-van Creveld syndrome.
TEST-2858 EVC2 Gene (Ellis-van Creveld Syndrome) Genetic Test This genetic test identifies pathogenic variants in the EVC2 gene associated with Ellis-van Creveld syndrome.	Peripheral Whole Blood (EDTA) or Buccal Swab	3–4 Weeks (complete clinical report)	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["EVC2 gene pathogenic variants", "Copy Number Variants (CNV) in EVC2"] Parameters [] Preparation ["No fasting required", "No special preparation required"] Indications ["Suspected Ellis-van Creveld syndrome", "Family history of Ellis-van Creveld syndrome", "Carrier screening for at-risk family members"] Measurement technique Confirm with laboratory Codes LOINC: 94056-6 ICD-10: Q77.6 Clinical summary This genetic test identifies pathogenic variants in the EVC2 gene associated with Ellis-van Creveld syndrome.
TEST-5635 FGF3 Gene Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia Genetic Test This diagnostic test evaluates the FGF3 gene for pathogenic variants associated with LAMM syndrome.	Peripheral Whole Blood (EDTA tube 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 FGF3 gene", "Single nucleotide variants", "Small insertions/deletions"] Parameters [] Preparation ["No specific fasting required", "No medication or diet restrictions"] Indications ["Individuals with clinical features suggestive of LAMM syndrome", "Family history of LAMM syndrome"] Measurement technique Confirm with laboratory Codes LOINC: 21636-6 ICD-10: Q16.5, H90.3 Clinical summary This diagnostic test evaluates the FGF3 gene for pathogenic variants associated with LAMM syndrome.
TEST-4870 FLNA Gene Melnick-Needles Syndrome Genetic Test This genetic test identifies pathogenic variants in the FLNA gene, providing a definitive molecular diagnosis for Melnick-Needles syndrome.	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 FLNA gene"] Parameters [] Preparation [] Indications ["Clinical suspicion of Melnick-Needles syndrome", "Family history of Melnick-Needles syndrome", "Need for definitive molecular diagnosis"] Measurement technique Confirm with laboratory Codes LOINC: 94222-0 ICD-10: Q87.8 Clinical summary This genetic test identifies pathogenic variants in the FLNA gene, providing a definitive molecular diagnosis for Melnick-Needles syndrome.

Category overview

Single Gene Disorder: overview

Finding the exact biological cause of a suspected genetic condition brings empowering clarity and a clear path to targeted relief and long-term management. Representing an advanced subspecialty in our Molecular Genetics department, Single Gene Disorder testing utilizes cutting-edge diagnostic technology to pinpoint the exact inherited mutation responsible for a specific clinical presentation. By analyzing the targeted gene with extreme precision, this essential screening provides your healthcare provider with the definitive data needed to safely guide personalized medical oversight, genetic counseling, and proactive family planning. Consistently trusted by specialists across diagnostic labs in Dubai and the UAE, DNA Labs guarantees absolute patient confidentiality, exceptional analytical accuracy, and remarkably fast turnaround times. Take control of your diagnostic journey—book your single gene disorder testing in UAE, coordinate a seamless home sample collection, or consult our specialized genetics team today.

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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.