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 31–45 of 72 matching tests.

Single Gene Disorder diagnostic tests, details, and listed prices
Test and description	Specimen	Typical duration	Price	Options
TEST-2336 Genetic Test for NIN Gene Seckel Syndrome Type 7 (SCKL7) This diagnostic test evaluates the NIN gene for pathogenic variants associated with Seckel syndrome type 7 (SCKL7).	Whole Blood (Peripheral)	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 NIN gene", "Single nucleotide variants", "Small insertions/deletions", "Copy number variations"] Parameters [] Preparation [] Indications ["Suspected Seckel syndrome type 7", "Family history of Seckel syndrome type 7"] Measurement technique Confirm with laboratory Codes LOINC: 82307-8 ICD-10: Q87.1 Clinical summary This diagnostic test evaluates the NIN gene for pathogenic variants associated with Seckel syndrome type 7 (SCKL7).
TEST-5604 GJB2 Gene (Knuckle Pads, Leukonychia, Sensorineural Hearing Loss) Genetic Test This test evaluates the GJB2 gene for mutations associated with hereditary sensorineural hearing loss, often accompanied by knuckle pads and leukonychia.	Peripheral whole blood	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 GJB2 gene", "Small indels in GJB2 gene", "Copy number variations in GJB2 gene"] Parameters [] Preparation ["No specific fasting required", "Inform phlebotomist if on anticoagulation therapy"] Indications ["Congenital hearing loss", "Syndromic skin findings", "Family history of GJB2-related disorders"] Measurement technique Confirm with laboratory Codes LOINC: 49929-6 ICD-10: H90.5, Q87.8 Clinical summary This test evaluates the GJB2 gene for mutations associated with hereditary sensorineural hearing loss, often accompanied by knuckle pads and leukonychia.
TEST-4030 GP9 Gene Bernard Soulier Syndrome, Type C Genetic Test This test identifies pathogenic variants in the GP9 gene associated with autosomal recessive Bernard-Soulier syndrome type C.	Whole Blood (EDTA) or extracted DNA; FTA card accepted	3–4 weeks from sample arrival at our DHA-licensed laboratory in Dubai Healthcare City	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the GP9 gene", "SNVs", "Indels", "Copy-number changes", "Splicing mutations"] Parameters [] Preparation [] Indications ["Confirmation of Bernard-Soulier syndrome type C diagnosis", "Carrier testing for family planning", "Differentiation from immune thrombocytopenia"] Measurement technique Confirm with laboratory Codes LOINC: 21659-5 ICD-10: D69.1 Clinical summary This test identifies pathogenic variants in the GP9 gene associated with autosomal recessive Bernard-Soulier syndrome type C.
TEST-3484 GPR143 Gene Ocular Albinism Type I (Nettleship-Falls) Genetic Test This genetic test evaluates the GPR143 gene for pathogenic variants associated with Ocular Albinism Type I (Nettleship-Falls).	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 ["GPR143 gene sequence", "Pathogenic variants (SNVs, indels, deletions, duplications)"] Parameters [] Preparation ["No fasting required", "Continue all prescribed medications", "Inform phlebotomist about blood-thinning medications"] Indications ["Clinically suspected Ocular Albinism Type I", "Family history of Ocular Albinism Type I", "Carrier screening in at-risk individuals", "Prenatal diagnosis (with prior familial variant identification and counseling)"] Measurement technique Confirm with laboratory Codes LOINC: 81321-2 ICD-10: E70.310 Clinical summary This genetic test evaluates the GPR143 gene for pathogenic variants associated with Ocular Albinism Type I (Nettleship-Falls).
TEST-2834 GRIP1 Gene (Fraser Syndrome) Genetic Test This genetic test analyzes the GRIP1 gene to detect mutations associated with Fraser syndrome, a rare autosomal recessive disorder.	Peripheral Whole Blood (EDTA)	3 to 4 weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["GRIP1 gene coding region", "GRIP1 gene splice sites", "Single nucleotide variants", "Small insertions and deletions", "Copy number alterations"] Parameters [] Preparation ["Attend mandatory pre-test genetic counseling", "Provide a detailed three-generation family history", "No fasting required", "Inform phlebotomist if taking anticoagulant therapy"] Indications ["Individuals with clinical features suggestive of Fraser syndrome", "Couples with a family history of Fraser syndrome planning pregnancy", "Fetuses with ultrasound findings consistent with the disorder"] Measurement technique Confirm with laboratory Codes LOINC: 21634-2 ICD-10: Q87.0 Clinical summary This genetic test analyzes the GRIP1 gene to detect mutations associated with Fraser syndrome, a rare autosomal recessive disorder.
TEST-4308 HCN1 Gene (Early Infantile Epileptic Encephalopathy Type 24) Genetic Test This genetic test analyzes the HCN1 gene for variants associated with Early Infantile Epileptic Encephalopathy Type 24 (EIEE24). It detects pathogenic and likely pathogenic mutatio...	Whole blood (EDTA tube), extracted DNA (minimum 1 µg), or dried blood spot on an FTA card	3 – 4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic and likely pathogenic variants in the HCN1 gene", "Coding exons and splice-site regions of HCN1"] Parameters [] Preparation ["A detailed clinical history is required.", "A formal genetic counselling session with pedigree charting is mandatory."] Indications ["Suspected diagnosis of Early Infantile Epileptic Encephalopathy Type 24 (EIEE24)", "Patients presenting with early-onset seizures and developmental delay"] Measurement technique Confirm with laboratory Codes LOINC: 82887-0 ICD-10: G40.822, Z15.89, Z13.858 Clinical summary This genetic test analyzes the HCN1 gene for variants associated with Early Infantile Epileptic Encephalopathy Type 24 (EIEE24). It detects pathogenic and likely pathogenic mutations in all coding exons and splice-site regions.
TEST-2794 HOXA13 Gene Hand-Foot-Uterus Syndrome Genetic Test This genetic test analyzes the HOXA13 gene for pathogenic variants associated with Hand-Foot-Uterus Syndrome.	Whole Blood, Extracted DNA, Dried Blood Spot (FTA Card)	3–4 Weeks (21–28 business days)	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the HOXA13 gene", "SNVs", "Indels", "Copy number variants (CNVs)"] Parameters [] Preparation ["Pre-test genetic counselling is required", "Informed written consent is mandatory"] Indications ["Clinical suspicion of Hand-Foot-Uterus Syndrome", "Family history of HFU syndrome"] Measurement technique Confirm with laboratory Codes LOINC: 83134-7 ICD-10: Q87.2 Clinical summary This genetic test analyzes the HOXA13 gene for pathogenic variants associated with Hand-Foot-Uterus Syndrome.
TEST-4671 HPRT1 Gene Lesch‑Nyhan Syndrome Genetic Test This test evaluates the HPRT1 gene for pathogenic variants associated with Lesch-Nyhan syndrome.	Blood / Dried Blood Spot (FTA card) / Extracted DNA	3–4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["HPRT1 gene sequence", "Pathogenic variants in HPRT1"] Parameters [] Preparation ["Genetic counselling session required before testing"] Indications ["Suspected Lesch-Nyhan syndrome", "Family history of Lesch-Nyhan syndrome", "Evaluation of X-linked intellectual disability"] Measurement technique Confirm with laboratory Codes LOINC: 21633-5 ICD-10: E79.1 Clinical summary This test evaluates the HPRT1 gene for pathogenic variants associated with Lesch-Nyhan syndrome.
TEST-2596 INPP5E Gene Test (MORM / Joubert Syndrome) This test evaluates the INPP5E gene for pathogenic variants associated with MORM syndrome and Joubert syndrome.	Peripheral Whole Blood (DNA extracted)	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 INPP5E gene"] Parameters [] Preparation [] Indications ["Clinical suspicion of MORM syndrome", "Clinical suspicion of Joubert syndrome", "Family history of MORM or Joubert syndrome"] Measurement technique Confirm with laboratory Codes LOINC: 90368-8 ICD-10: Q04.3, Q87.8 Clinical summary This test evaluates the INPP5E gene for pathogenic variants associated with MORM syndrome and Joubert syndrome.
TEST-4897 IRF8 Gene Immunodeficiency Type 32A, Mycobacteriosis, Autosomal Dominant Genetic Test This test evaluates the IRF8 gene for pathogenic autosomal dominant variants associated with immunodeficiency type 32A and susceptibility to mycobacterial disease.	Peripheral Whole Blood (EDTA) 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 IRF8 gene", "Autosomal dominant mutations"] Parameters [] Preparation ["No specific fasting required", "Inform lab of any current medications"] Indications ["Suspected IRF8-related immunodeficiency", "Recurrent or severe mycobacterial infections", "Family history suggestive of autosomal dominant immunodeficiency"] Measurement technique Confirm with laboratory Codes LOINC: 21639-0 ICD-10: D84.8 Clinical summary This test evaluates the IRF8 gene for pathogenic autosomal dominant variants associated with immunodeficiency type 32A and susceptibility to mycobacterial disease.
TEST-4913 IRF8 Gene Immunodeficiency Type 32B, Monocyte and Dendritic Cell Deficiency, Autosomal Recessive Genetic Test This genetic test identifies pathogenic variants in the IRF8 gene associated with autosomal recessive immunodeficiency type 32B.	Whole blood (EDTA), extracted DNA, or one drop blood on FTA card	3 to 4 weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["IRF8 gene coding region variants", "Pathogenic variants (SNVs, indels)"] Parameters [] Preparation [] Indications ["Individuals with recurrent mycobacterial infections", "Persistent monocytopenia", "Family history of primary immunodeficiency"] Measurement technique Confirm with laboratory Codes LOINC: 94745-0 ICD-10: D81.89, Z14.01, Z15.09 Clinical summary This genetic test identifies pathogenic variants in the IRF8 gene associated with autosomal recessive immunodeficiency type 32B.
TEST-4452 KCNA1 Gene Episodic Ataxia Type 1 Genetic Test This genetic test identifies pathogenic variants within the KCNA1 gene, which are responsible for causing Episodic Ataxia Type 1.	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 KCNA1 gene"] Parameters [] Preparation ["No specific fasting required", "Inform lab of any relevant medications"] Indications ["Suspected diagnosis of Episodic Ataxia Type 1", "Family history of Episodic Ataxia Type 1", "Need for genetic counselling and family screening"] Measurement technique Confirm with laboratory Codes LOINC: 90672-3 ICD-10: G11.2 Clinical summary This genetic test identifies pathogenic variants within the KCNA1 gene, which are responsible for causing Episodic Ataxia Type 1.
TEST-5143 LAMB3 Gene Sequencing for Junctional Epidermolysis Bullosa, Non‑Herlitz Type (NGS) Test This diagnostic test evaluates the LAMB3 gene for pathogenic variants associated with junctional epidermolysis bullosa non‑Herlitz type.	Whole Blood or Buccal Swab	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 LAMB3 gene", "Full coding region and splice sites"] Parameters [] Preparation [] Indications ["Patients presenting with skin fragility, erosions, and nail dystrophy suggestive of junctional EB", "Immunofluorescence mapping indicates laminin‑332 deficiency"] Measurement technique Confirm with laboratory Codes LOINC: 101427-8 ICD-10: Q81.1 Clinical summary This diagnostic test evaluates the LAMB3 gene for pathogenic variants associated with junctional epidermolysis bullosa non‑Herlitz type.
TEST-3117 LARP7 Gene Alazami Syndrome Genetic Test This genetic test identifies pathogenic variants in the LARP7 gene, which are causative for Alazami syndrome.	Peripheral whole blood (EDTA tube)	3–4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["LARP7 gene sequence", "Pathogenic variants (point mutations, small indels)"] Parameters [] Preparation [] Indications ["Clinical suspicion of Alazami syndrome", "Infants/children with microcephaly, severe short stature, dysmorphic facies, developmental delay", "Family history suggestive of Alazami syndrome"] Measurement technique Confirm with laboratory Codes LOINC: 21636-6 ICD-10: Q87.1 Clinical summary This genetic test identifies pathogenic variants in the LARP7 gene, which are causative for Alazami syndrome.
TEST-2511 LZTR1 Gene Noonan Syndrome Type 10 Genetic Test This genetic test evaluates the LZTR1 gene for pathogenic variants associated with Noonan syndrome type 10.	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 ["LZTR1 gene sequence", "Copy Number Variants (CNVs) in LZTR1"] Parameters [] Preparation [] Indications ["Suspected Noonan syndrome type 10", "Family history of Noonan syndrome type 10", "Evaluation of dysmorphic features and congenital heart defects"] Measurement technique Confirm with laboratory Codes LOINC: 92655-1 ICD-10: Q87.1 Clinical summary This genetic test evaluates the LZTR1 gene for pathogenic variants associated with Noonan syndrome type 10.

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.