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

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Genetic Disorders test prices

Showing 91–105 of 136 matching tests.

Genetic Disorders diagnostic tests, details, and listed prices
Test and description	Specimen	Typical duration	Price	Options
TEST-5860 PCCA Gene Propionic Acidemia Genetic Test This test evaluates the PCCA gene for pathogenic variants associated with propionic acidemia.	Peripheral Whole Blood (EDTA) or Extracted DNA	10–14 Business Days	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["PCCA gene sequence", "Pathogenic variants (SNVs, indels, copy-number variants)"] Parameters [] Preparation ["No fasting or special preparation needed"] Indications ["Suspected propionic acidemia", "Carrier detection", "Family planning", "Confirmation of clinical diagnosis"] Measurement technique Confirm with laboratory Codes LOINC: 82153-1 ICD-10: E71.121 Clinical summary This test evaluates the PCCA gene for pathogenic variants associated with propionic acidemia.
TEST-3578 PCSK1 Gene Obesity with Impaired Prohormone Processing Genetic Test This genetic test evaluates the PCSK1 gene for pathogenic variants associated with monogenic obesity due to impaired prohormone processing.	Whole Blood (EDTA), 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 PCSK1 gene", "Impaired prohormone convertase 1/3 function"] Parameters [] Preparation ["No fasting required"] Indications ["Suspected monogenic obesity", "Family history of PCSK1-related obesity", "Diagnostic odyssey for obesity"] Measurement technique Confirm with laboratory Codes LOINC: 94473-2 ICD-10: E66.8, Z13.71 Clinical summary This genetic test evaluates the PCSK1 gene for pathogenic variants associated with monogenic obesity due to impaired prohormone processing.
TEST-4056 PDCD10 Gene Cerebral Cavernous Malformations Type 3 Genetic Test This genetic test identifies pathogenic variants in the PDCD10 gene associated with Cerebral Cavernous Malformations Type 3 (CCM3).	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 ["PDCD10 gene sequence", "Pathogenic variants (SNVs, indels, CNVs)"] Parameters [] Preparation ["No specific fasting required", "Inform lab of recent blood transfusions or transplants"] Indications ["Diagnosis of CCM3", "Family screening for CCM3", "Risk assessment for individuals with family history of CCM"] Measurement technique Confirm with laboratory Codes LOINC: 21665-0 ICD-10: Q28.3, I67.1 Clinical summary This genetic test identifies pathogenic variants in the PDCD10 gene associated with Cerebral Cavernous Malformations Type 3 (CCM3).
TEST-4083 PDSS2 Gene Coenzyme Q10 Deficiency Type 3 Genetic Test This test identifies pathogenic variants in the PDSS2 gene responsible for primary Coenzyme Q10 deficiency type 3.	Peripheral Whole Blood (3–5 mL in EDTA tube) or Dried Blood Spot 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 PDSS2 gene", "Coding region and splice sites", "Exonic copy number variations"] Parameters [] Preparation ["No specific fasting required", "Inform lab of any medications"] Indications ["Suspected primary Coenzyme Q10 deficiency type 3", "Neurological symptoms unresponsive to standard treatment", "Family history of mitochondrial disorders"] Measurement technique Confirm with laboratory Codes LOINC: 55232-0 ICD-10: E80.3 Clinical summary This test identifies pathogenic variants in the PDSS2 gene responsible for primary Coenzyme Q10 deficiency type 3.
TEST-5066 PEX1 Gene Heimler Syndrome Type 1 Genetic Test This genetic test identifies pathogenic variants in the PEX1 gene associated with Heimler syndrome.	Whole Blood (EDTA), Extracted DNA, FTA Card	3–4 Weeks from sample accession	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["PEX1 gene variants", "Peroxisome biogenesis pathway"] Parameters [] Preparation ["No fasting needed", "Avoid alcohol and strenuous exercise for 24 hours before blood draw", "Ensure DNA concentration >25 ng/µL with OD 260/280 ratio ~1.8 for extracted DNA"] Indications ["Suspected Heimler syndrome", "Hereditary hearing loss", "Peroxisomal disorders"] Measurement technique Confirm with laboratory Codes LOINC: 82080-1 ICD-10: Q87.8, H90.5, Z15.89 Clinical summary This genetic test identifies pathogenic variants in the PEX1 gene associated with Heimler syndrome.
TEST-5983 PEX26 Gene Zellweger Spectrum Disorder (ZSD) Genetic Test This genetic test identifies pathogenic variants, including copy number changes, within the PEX26 gene.	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 ["PEX26 gene variants", "Copy number variations (CNVs) in PEX26"] Parameters [] Preparation ["Attend a mandatory genetic counselling session", "Provide a blood sample (whole blood, extracted DNA or FTA card)"] Indications ["Diagnosis and management of progressive peroxisomal disorders", "Variant interpretation for research", "Personalized metabolic interventions"] Measurement technique Confirm with laboratory Codes LOINC: 55232-2 ICD-10: E71.510 Clinical summary This genetic test identifies pathogenic variants, including copy number changes, within the PEX26 gene.
TEST-2431 Phelan-McDermid Syndrome (22q13.3) Genetic Test This test detects deletions or pathogenic variants in the SHANK3 gene and the 22q13.3 chromosomal region associated with Phelan-McDermid syndrome.	Peripheral Whole Blood or FTA Card (Dried Blood Spots)	3–4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["SHANK3 gene deletions", "Pathogenic variants in SHANK3", "22q13.3 chromosomal region deletions"] Parameters [{"name": "SHANK3 Gene Coverage", "reference_range": "Full gene coverage including intronic regions"}, {"name": "Diagnostic Sensitivity", "reference_range": "99.9%"}] Preparation ["No specific fasting required", "Inform the lab of any current medications"] Indications ["Clinical suspicion of Phelan-McDermid syndrome", "Developmental delay", "Autism spectrum disorder", "Neonatal hypotonia"] Measurement technique Confirm with laboratory Codes LOINC: 10882-0 ICD-10: Q93.5 Clinical summary This test detects deletions or pathogenic variants in the SHANK3 gene and the 22q13.3 chromosomal region associated with Phelan-McDermid syndrome.
TEST-3546 PKHD1 Gene Polycystic Kidney and Hepatic Disease Genetic Test This genetic test identifies mutations in the PKHD1 gene associated with Autosomal Recessive Polycystic Kidney Disease (ARPKD) and hepatic fibrosis.	Whole Blood, 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 ["PKHD1 gene variants", "Single nucleotide variants", "Small insertions/deletions", "Splice-site mutations"] Parameters [] Preparation ["No fasting required", "Detailed three-generation pedigree recommended", "Pre-test genetic counseling recommended"] Indications ["Diagnosis of suspected ARPKD", "Carrier screening in families with ARPKD", "Prenatal diagnosis"] Measurement technique Confirm with laboratory Codes LOINC: 76430-0 ICD-10: Q61.19 Clinical summary This genetic test identifies mutations in the PKHD1 gene associated with Autosomal Recessive Polycystic Kidney Disease (ARPKD) and hepatic fibrosis.
TEST-5751 PNPLA6 Gene SPG39 Next-Generation Sequencing (NGS) Genetic Test This test identifies pathogenic variants in the PNPLA6 gene associated with hereditary spastic paraplegia type 39 and related neurodegenerative disorders.	Peripheral Blood (3-5 mL in EDTA tube) 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 ["Pathogenic variants in the PNPLA6 gene", "Coding region and splice-site variants"] Parameters [] Preparation ["No fasting required", "Pre-test genetic counselling session included"] Indications ["Suspected hereditary spastic paraplegia type 39", "Family history of SPG39 or related syndromes", "Evaluation of neurodegenerative disorders"] Measurement technique Confirm with laboratory Codes LOINC: 81444-0 ICD-10: G11.4 Clinical summary This test identifies pathogenic variants in the PNPLA6 gene associated with hereditary spastic paraplegia type 39 and related neurodegenerative disorders.
TEST-5368 POLG Gene Neuropathy with Sensory Ataxic Dysarthria and Ophthalmoparesis Genetic Test This test evaluates the entire POLG gene for pathogenic variants associated with Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis (SANDO) syndrome.	Whole Blood (EDTA) or Extracted DNA	3–4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Single-nucleotide variants (SNVs)", "Insertions/Deletions (Indels)", "Copy-number changes", "Pathogenic variants in the POLG gene"] Parameters [] Preparation ["No specific fasting required.", "Inform the phlebotomist about any medications you are taking."] Indications ["Individuals with clinical features suggestive of SANDO syndrome", "Family history of POLG-related disorders", "Diagnostic confirmation of suspected mitochondrial neuropathy"] Measurement technique Confirm with laboratory Codes LOINC: 50397-9 ICD-10: G60.0, G31.81 Clinical summary This test evaluates the entire POLG gene for pathogenic variants associated with Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis (SANDO) syndrome.
TEST-1219 Polycystic Kidney Disease Gene Panel Test This test identifies pathogenic variants in genes associated with autosomal dominant and recessive polycystic kidney disease using next-generation sequencing.	Peripheral whole blood (adults/children); amniotic fluid or chorionic villus (prenatal – hospital extraction only)	4–6 weeks	4,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in PKD1 gene", "Pathogenic variants in PKD2 gene", "Pathogenic variants in PKHD1 gene", "Pathogenic variants in GANAB gene", "Pathogenic variants in DNAJB11 gene", "Copy-number alterations in associated genes"] Parameters [] Preparation ["No specific fasting required for blood samples.", "Inform the phlebotomist of any medications being taken."] Indications ["Diagnosis of autosomal dominant polycystic kidney disease (ADPKD)", "Diagnosis of autosomal recessive polycystic kidney disease (ARPKD)", "Cascade screening of family members", "Recurrence risk assessment for family planning"] Measurement technique Confirm with laboratory Codes LOINC: 94038-6 ICD-10: Q61.3 Clinical summary This test identifies pathogenic variants in genes associated with autosomal dominant and recessive polycystic kidney disease using next-generation sequencing.
TEST-3623 POMC Gene (Obesity, Adrenal Insufficiency, Red Hair) Genetic Test This test evaluates the POMC gene for pathogenic variants associated with early-onset obesity, adrenal insufficiency, and red hair syndrome.	Peripheral Venous Whole Blood 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 POMC gene", "Melanocortin signalling pathway disruption"] Parameters [] Preparation ["No specific fasting required", "No medication or diet restrictions"] Indications ["Individuals with early-onset obesity, unexplained adrenal insufficiency, and red hair", "Diagnostic confirmation of POMC-related syndrome"] Measurement technique Confirm with laboratory Codes LOINC: 93476-3 ICD-10: E23.3 Clinical summary This test evaluates the POMC gene for pathogenic variants associated with early-onset obesity, adrenal insufficiency, and red hair syndrome.
TEST-6146 PRODH Gene (Hyperprolinemia Type 1) Genetic Test This genetic test analyzes the PRODH gene for variants associated with Hyperprolinemia Type 1, an inherited metabolic disorder.	Whole Blood (Peripheral) 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 ["PRODH gene sequence", "Pathogenic variants in PRODH gene"] Parameters [] Preparation ["No fasting required", "No medication adjustments needed unless directed by physician"] Indications ["Suspected Hyperprolinemia Type 1", "Family history of Hyperprolinemia Type 1", "Carrier screening", "Family planning"] Measurement technique Confirm with laboratory Codes LOINC: 83512-6 ICD-10: E72.59 Clinical summary This genetic test analyzes the PRODH gene for variants associated with Hyperprolinemia Type 1, an inherited metabolic disorder.
TEST-2414 Prolidase Deficiency (PEPD) Genetic Test This test identifies pathogenic variants in the PEPD gene associated with prolidase deficiency.	Blood (EDTA), 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 ["Pathogenic variants in the PEPD gene", "Single-nucleotide variants", "Small insertions/deletions", "Copy-number variants (CNVs)"] Parameters [] Preparation ["Genetic counselling session required before sampling", "Pedigree chart documenting affected family members must be provided"] Indications ["Suspected prolidase deficiency", "Diagnosis of a rare autosomal recessive disorder"] Measurement technique Confirm with laboratory Codes LOINC: 55231-0 ICD-10: E70.89 Clinical summary This test identifies pathogenic variants in the PEPD gene associated with prolidase deficiency.
TEST-4884 PUS3 Gene Intellectual Disability Type 55 Genetic Test This test identifies pathogenic variants in the PUS3 gene associated with autosomal recessive intellectual disability type 55 (MRT55).	Whole blood (EDTA), DNA FTA card, or extracted DNA	21–28 Business Days (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 PUS3 gene", "Single-nucleotide variants", "Small insertions/deletions", "Splice-site alterations"] Parameters [] Preparation ["No specific fasting required", "No specific medication or diet restrictions"] Indications ["Individuals with unexplained developmental delay, intellectual disability, microcephaly, or seizure disorders", "Families with a known history of autosomal recessive intellectual disability", "Carrier screening for at-risk relatives"] Measurement technique Confirm with laboratory Codes LOINC: 94754-5 ICD-10: F78.A Clinical summary This test identifies pathogenic variants in the PUS3 gene associated with autosomal recessive intellectual disability type 55 (MRT55).

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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