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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2,800.00 AED

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Single Gene Disorder test prices

Showing 61–72 of 72 matching tests.

Single Gene Disorder diagnostic tests, details, and listed prices
Test and description	Specimen	Typical duration	Price	Options
TEST-6178 SRD5A3 Gene Congenital Disorder of Glycosylation, Type Iq Genetic Test This genetic test analyzes the SRD5A3 gene to detect pathogenic variants associated with Congenital Disorder of Glycosylation Type Iq.	Whole Blood (EDTA), Extracted DNA, or One Drop of Blood on 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 SRD5A3 gene"] Parameters [] Preparation ["Fasting is not necessary", "Share clinical history and prior reports", "Mandatory Genetic Counselling session required before sample collection"] Indications ["Suspected Congenital Disorder of Glycosylation Type Iq", "Family history of CDG-Iq"] Measurement technique Confirm with laboratory Codes LOINC: 61738-5 ICD-10: E77.8 Clinical summary This genetic test analyzes the SRD5A3 gene to detect pathogenic variants associated with Congenital Disorder of Glycosylation Type Iq.
TEST-2488 SUMO1 Gene Orofacial Cleft Type 10 Genetic Test This test evaluates the SUMO1 gene for pathogenic variants associated with orofacial cleft type 10.	Peripheral Whole Blood, FTA Card, 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 SUMO1 gene", "Single-nucleotide variants (SNVs)", "Small insertions and deletions (indels)", "Copy-number alterations (CNVs)", "Deep intronic variants"] Parameters [] Preparation ["No fasting required", "No discontinuation of medications required"] Indications ["Infants or children diagnosed with orofacial cleft", "Individuals with a strong family history of clefting", "Couples planning a pregnancy seeking carrier or recurrence risk assessment"] Measurement technique Confirm with laboratory Codes LOINC: 81247-9 ICD-10: Q37.9 Clinical summary This test evaluates the SUMO1 gene for pathogenic variants associated with orofacial cleft type 10.
TEST-5869 SUOX Gene Sulfite Oxidase Deficiency Genetic Test This test detects mutations in the SUOX gene associated with sulfite oxidase deficiency.	Whole Blood, DNA FTA Card, or Extracted DNA	3–4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["SUOX gene mutations", "Disease-causing variants"] Parameters [] Preparation [] Indications ["Suspected sulfite oxidase deficiency", "Family history of metabolic disorders", "Genetic counselling"] Measurement technique Confirm with laboratory Codes LOINC: 81247-0 ICD-10: E72.1, Z15.89, Z13.79 Clinical summary This test detects mutations in the SUOX gene associated with sulfite oxidase deficiency.
TEST-4650 TCTN1 Gene Joubert Syndrome Type 13 Genetic Test This diagnostic test evaluates the TCTN1 gene for pathogenic variants associated with Joubert syndrome type 13.	Peripheral whole blood	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 TCTN1 gene", "Single nucleotide variants (SNVs)", "Small indels"] Parameters [] Preparation ["No specific fasting required", "No medication adjustments needed"] Indications ["Suspected Joubert syndrome type 13", "Confirmation of clinical diagnosis"] Measurement technique Confirm with laboratory Codes LOINC: 21636-9 ICD-10: Q04.3 Clinical summary This diagnostic test evaluates the TCTN1 gene for pathogenic variants associated with Joubert syndrome type 13.
TEST-4645 TGM5 Gene (Peeling Skin Syndrome Type 2) Genetic Test This genetic test identifies pathogenic variants in the TGM5 gene to confirm a diagnosis of Peeling Skin Syndrome Type 2.	Peripheral Whole Blood	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 TGM5 gene", "Copy Number Variations (CNV) in the TGM5 gene"] Parameters [] Preparation ["No fasting required", "No alterations to medication routine required", "Mandatory pre-test genetic counseling session required"] Indications ["Clinical suspicion of Peeling Skin Syndrome Type 2", "Known family history of Peeling Skin Syndrome Type 2", "Family screening", "Reproductive risk assessment"] Measurement technique Confirm with laboratory Codes LOINC: 82162-7 ICD-10: Q82.8 Clinical summary This genetic test identifies pathogenic variants in the TGM5 gene to confirm a diagnosis of Peeling Skin Syndrome Type 2.
TEST-5042 TSPAN7 Gene Intellectual Developmental Disorder, X‑Linked Type 58 Genetic Test This genetic test identifies pathogenic variants, including point mutations and CNVs, within the TSPAN7 gene associated with X-linked intellectual disability type 58.	Peripheral Whole Blood 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 TSPAN7 gene", "Copy Number Variants (CNVs) in TSPAN7 gene"] Parameters [] Preparation ["No special preparation is needed.", "Pre-test genetic counselling is mandatory."] Indications ["Diagnosis of X-linked intellectual disability type 58", "Assessment of recurrence risk in families", "Confirmation of genetic aetiology for cognitive impairment"] Measurement technique Confirm with laboratory Codes LOINC: 83329-9 ICD-10: F79, Q99.8 Clinical summary This genetic test identifies pathogenic variants, including point mutations and CNVs, within the TSPAN7 gene associated with X-linked intellectual disability type 58.
TEST-3677 UBR1 Gene Johanson‑Blizzard Syndrome Genetic Test This genetic test identifies pathogenic variants in the UBR1 gene associated with Johanson-Blizzard syndrome.	Peripheral blood or Buccal swab (FTA card)	3 to 4 weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["UBR1 gene sequence", "Pathogenic variants"] Parameters [] Preparation [] Indications ["Suspected Johanson-Blizzard syndrome", "Patients with relevant clinical features"] Measurement technique Confirm with laboratory Codes LOINC: 21634-6 ICD-10: Q87.8 Clinical summary This genetic test identifies pathogenic variants in the UBR1 gene associated with Johanson-Blizzard syndrome.
TEST-6127 UPB1 Gene Beta‑Ureidopropionase Deficiency Genetic Test This genetic test identifies pathogenic variants in the UPB1 gene, which are responsible for beta‑ureidopropionase deficiency, an inborn error of pyrimidine metabolism.	Peripheral whole blood (3–5 mL in EDTA tube) or FTA card	3–4 weeks (21–28 calendar days)	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the UPB1 gene", "Coding region and splice sites of the beta‑ureidopropionase gene"] Parameters [] Preparation ["Do not discontinue prescribed therapy without physician approval"] Indications ["Suspected beta‑ureidopropionase deficiency", "Family history of beta‑ureidopropionase deficiency", "Evaluation of inborn errors of pyrimidine metabolism"] Measurement technique Confirm with laboratory Codes LOINC: 82324-2 ICD-10: E79.89 Clinical summary This genetic test identifies pathogenic variants in the UPB1 gene, which are responsible for beta‑ureidopropionase deficiency, an inborn error of pyrimidine metabolism.
TEST-4574 VDR Gene Rickets, Vitamin D-Resistant, Type 2A Genetic Test This diagnostic test evaluates the entire coding region of the VDR gene for pathogenic variants associated with hereditary vitamin D-resistant rickets type 2A.	Whole Blood (Peripheral)	3–4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["VDR gene mutations (missense, indel, CNV)", "Pathogenic variants associated with VDDR2A"] Parameters [] Preparation ["No specific fasting required", "No specific medication or diet restrictions"] Indications ["Diagnosis of hereditary vitamin D-resistant rickets type 2A (VDDR2A)", "Patients with skeletal deformities unresponsive to vitamin D", "Patients with alopecia and rickets", "Family history suggestive of autosomal recessive inheritance"] Measurement technique Confirm with laboratory Codes LOINC: 93277-8 ICD-10: E83.31 Clinical summary This diagnostic test evaluates the entire coding region of the VDR gene for pathogenic variants associated with hereditary vitamin D-resistant rickets type 2A.
TEST-2251 WNT3 Gene Tetra‑Amelia, Autosomal Recessive Genetic Test This test evaluates the WNT3 gene for pathogenic variants associated with tetra‑amelia syndrome.	Peripheral whole blood (EDTA) or extracted genomic DNA	3–4 weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["WNT3 gene sequence", "Pathogenic variants in WNT3"] Parameters [] Preparation ["No fasting required", "Continue all prescribed medications"] Indications ["Suspected diagnosis of tetra‑amelia syndrome", "Carrier screening for WNT3-related variants", "Prenatal diagnosis", "Family planning counselling"] Measurement technique Confirm with laboratory Codes LOINC: 82903-4 ICD-10: Q73.1 Clinical summary This test evaluates the WNT3 gene for pathogenic variants associated with tetra‑amelia syndrome.
TEST-2881 XYLT1 Gene Desbuquois Dysplasia Type 2 Genetic Test This test identifies genetic variants in the XYLT1 gene associated with Desbuquois dysplasia type 2.	Peripheral whole blood, FTA card dried blood spot, or previously extracted genomic DNA	21–28 calendar days	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["XYLT1 gene sequence", "Pathogenic variants in XYLT1"] Parameters [] Preparation [] Indications ["Clinical and radiographic suspicion of Desbuquois dysplasia type 2", "At-risk family members", "Reproductive risk assessment"] Measurement technique Confirm with laboratory Codes LOINC: 81260-5 ICD-10: Q77.8 Clinical summary This test identifies genetic variants in the XYLT1 gene associated with Desbuquois dysplasia type 2.
TEST-4949 ZDHHC15 Gene X‑Linked Intellectual Disability Type 91 Genetic Test This diagnostic test evaluates the ZDHHC15 gene for pathogenic variants associated with X-linked intellectual disability type 91.	Whole blood (peripheral venipuncture)	3–4 weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in ZDHHC15 gene coding exons", "Pathogenic variants in ZDHHC15 gene flanking splice junctions"] Parameters [] Preparation ["No specific fasting required.", "No specific medication or diet restrictions."] Indications ["Males with unexplained intellectual disability, developmental delay, or autistic features.", "Family history suggestive of X-linked inheritance.", "Females with affected male relatives (for carrier status assessment)."] Measurement technique Confirm with laboratory Codes LOINC: 94847-3 ICD-10: F78.9 Clinical summary This diagnostic test evaluates the ZDHHC15 gene for pathogenic variants associated with X-linked intellectual disability type 91.

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.