Genetic Syndromes tests in Dubai & UAE

Compare available Genetic Syndromes 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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1,100.00–2,800.00 AED

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Genetic Syndromes test prices

Showing 1–13 of 13 matching tests.

Genetic Syndromes diagnostic tests, details, and listed prices
Test and description	Specimen	Typical duration	Price	Options
TEST-2812 BCS1L Gene GRACILE Syndrome Genetic Test This test identifies pathogenic variants in the BCS1L gene associated with GRACILE syndrome.	Whole Blood (EDTA), DNA Extract, 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 BCS1L gene"] Parameters [] Preparation ["No fasting required", "Prior genetic counseling session advised"] Indications ["Suspected GRACILE syndrome based on clinical presentation", "Family history of GRACILE syndrome", "Neonatal screening results suggesting mitochondrial disorder"] Measurement technique Confirm with laboratory Codes LOINC: 81247-9 ICD-10: E88.49 Clinical summary This test identifies pathogenic variants in the BCS1L gene associated with GRACILE syndrome.
TEST-2158 Beckwith‑Wiedemann Syndrome (11p15) Genetic Test This test evaluates the 11p15 imprinting region for genetic and epigenetic alterations associated with Beckwith‑Wiedemann Syndrome.	Whole Blood (EDTA), 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 ["11p15 IC1/IC2 methylation status", "CDKN1C variants", "H19 variants", "KCNQ1OT1 variants", "Genome-wide copy number variations (CNV)"] Parameters [] Preparation [] Indications ["Clinical suspicion of Beckwith‑Wiedemann Syndrome", "Evaluation of overgrowth syndromes", "Prenatal screening for BWS features", "Family history of BWS"] Measurement technique Confirm with laboratory Codes LOINC: 81254-5 ICD-10: Q87.3 Clinical summary This test evaluates the 11p15 imprinting region for genetic and epigenetic alterations associated with Beckwith‑Wiedemann Syndrome.
TEST-1647 DiGeorge Syndrome (Karyotyping & FISH) Test This test evaluates for the presence of a 22q11.2 microdeletion, a common cause of DiGeorge syndrome.	Peripheral Whole Blood	10 – 12 working days	1,100.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["22q11.2 microdeletion", "Chromosomal abnormalities"] Parameters [] Preparation ["No specific fasting required", "Inform lab of any medications"] Indications ["Suspected DiGeorge syndrome based on clinical features", "Family history of 22q11.2 deletion syndrome", "Prenatal screening results suggesting chromosomal abnormality"] Measurement technique Confirm with laboratory Codes LOINC: 55233-1 ICD-10: D82.1 Clinical summary This test evaluates for the presence of a 22q11.2 microdeletion, a common cause of DiGeorge syndrome.
TEST-2196 EZH2 Gene Sequencing (Weaver Syndrome) Test This test analyzes the EZH2 gene for pathogenic variants associated with Weaver syndrome and cancer risks.	Peripheral whole blood (EDTA tube) 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 ["EZH2 gene pathogenic variants"] Parameters [] Preparation [] Indications ["Children with overgrowth, distinctive facial features, and developmental delay", "Adults with suspected familial cancer syndromes linked to EZH2 mutations"] Measurement technique Confirm with laboratory Codes LOINC: 77649-1 ICD-10: Q87.3 Clinical summary This test analyzes the EZH2 gene for pathogenic variants associated with Weaver syndrome and cancer risks.
TEST-4193 FBN1 Gene MASS Syndrome Genetic Test This test analyzes the entire FBN1 gene for pathogenic variants associated with MASS syndrome.	Peripheral whole blood (3–5 mL EDTA tube)	3–4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["FBN1 gene coding region variants", "Pathogenic mutations"] Parameters [] Preparation ["No fasting required"] Indications ["Suspected MASS syndrome", "Family history of MASS syndrome", "Need for personalized cardiology surveillance", "Reproductive counseling"] Measurement technique Confirm with laboratory Codes LOINC: 82179-1 ICD-10: Q87.4 Clinical summary This test analyzes the entire FBN1 gene for pathogenic variants associated with MASS syndrome.
TEST-2700 FGFR1 Gene Jackson-Weiss Syndrome Genetic Test This genetic test identifies pathogenic variants in the FGFR1 gene, which are associated with Jackson-Weiss syndrome, a disorder characterized by craniosynostosis and foot anomalie...	Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot	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 FGFR1 gene", "Single nucleotide variants", "Small insertions/deletions", "Copy number changes (CNV)"] Parameters [] Preparation ["Informed consent required", "Pre-test genetic counseling strongly recommended"] Indications ["Clinical suspicion of Jackson-Weiss syndrome", "Family history of craniosynostosis or syndromic foot anomalies", "Genetic counseling for families with affected individuals"] Measurement technique Confirm with laboratory Codes LOINC: 21757-9 ICD-10: Q87.0 Clinical summary This genetic test identifies pathogenic variants in the FGFR1 gene, which are associated with Jackson-Weiss syndrome, a disorder characterized by craniosynostosis and foot anomalies.
TEST-2213 GRHL3 Gene Van der Woude Syndrome Type 2 Genetic Test This test evaluates the GRHL3 gene for pathogenic variants associated with Van der Woude syndrome type 2.	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 ["GRHL3 gene coding region", "Pathogenic variants (SNVs, indels, CNVs)"] Parameters [] Preparation ["Mandatory pre-test genetic counselling", "Detailed family pedigree construction"] Indications ["Clinical suspicion of Van der Woude syndrome type 2", "Family history of Van der Woude syndrome type 2"] Measurement technique Confirm with laboratory Codes LOINC: 94222-2 ICD-10: Q87.0 Clinical summary This test evaluates the GRHL3 gene for pathogenic variants associated with Van der Woude syndrome type 2.
TEST-2134 H19 Gene Beckwith-Wiedemann Syndrome Genetic Test This test analyzes the H19 gene for pathogenic variants and methylation abnormalities associated with Beckwith-Wiedemann syndrome.	Peripheral whole blood (3–5 mL in EDTA tube) or FTA card spot	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 H19 gene", "Methylation abnormalities in the H19 gene"] Parameters [] Preparation [] Indications ["Diagnosis of Beckwith-Wiedemann syndrome (BWS)", "Assessment of cancer predisposition (Wilms tumor, hepatoblastoma)", "Evaluation of overgrowth syndromes"] Measurement technique Confirm with laboratory Codes LOINC: 48000-9 ICD-10: Q87.3 Clinical summary This test analyzes the H19 gene for pathogenic variants and methylation abnormalities associated with Beckwith-Wiedemann syndrome.
TEST-2259 Maternal UPD Chromosome 14 (Temple Syndrome) Genetic Test This test detects maternal uniparental disomy of chromosome 14 (UPD[14]) and associated methylation defects responsible for Temple syndrome.	Peripheral Whole Blood (EDTA), Dried Blood Spot (FTA), or Extracted DNA	3–4 weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Maternal uniparental disomy of chromosome 14", "Methylation status at the 14q32 imprinting center"] Parameters [] Preparation [] Indications ["Suspected Temple syndrome based on clinical presentation", "Evaluation of growth restriction and developmental delay", "Family planning in cases of known UPD[14]"] Measurement technique Confirm with laboratory Codes LOINC: 81303-9 ICD-10: Q87.8 Clinical summary This test detects maternal uniparental disomy of chromosome 14 (UPD[14]) and associated methylation defects responsible for Temple syndrome.
TEST-2304 Maternal UPD(7)mat Silver-Russell Syndrome Genetic Test This test identifies maternal uniparental disomy of chromosome 7 (UPD(7)mat), a key molecular cause of Silver-Russell syndrome.	Whole blood (EDTA), dried blood spot (FTA card), 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 ["Uniparental disomy of chromosome 7 (maternal origin)", "Allele-specific expression"] Parameters [] Preparation ["No fasting required", "No medication changes required"] Indications ["Suspected Silver-Russell syndrome", "Growth failure of unknown cause", "Differential diagnosis of developmental disorders"] Measurement technique Confirm with laboratory Codes LOINC: 97513-6 ICD-10: Q87.1, Q99.8, Z13.79 Clinical summary This test identifies maternal uniparental disomy of chromosome 7 (UPD(7)mat), a key molecular cause of Silver-Russell syndrome.
TEST-5111 MIR17HG Gene (Feingold Syndrome Type 2) Next‑Generation Sequencing (Genetic Test This diagnostic test evaluates the MIR17HG gene for pathogenic germline variants associated with Feingold Syndrome Type 2.	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 ["Pathogenic germline variants in the MIR17HG gene", "Single nucleotide variants (SNVs)", "Insertions/deletions (indels)", "Copy number variations (CNVs)"] Parameters [] Preparation ["Pre-test genetic counselling is mandatory.", "Signed informed consent is mandatory."] Indications ["Confirmation of Feingold Syndrome Type 2 diagnosis", "Genetic counselling for individuals with clinical suspicion", "Family history of Feingold Syndrome Type 2"] Measurement technique Confirm with laboratory Codes LOINC: 82203-3 ICD-10: Q87.8 Clinical summary This diagnostic test evaluates the MIR17HG gene for pathogenic germline variants associated with Feingold Syndrome Type 2.
TEST-5611 SNRPN Gene Prader-Willi Syndrome Genetic Test This test analyzes the SNRPN gene to detect genetic changes associated with Prader-Willi syndrome.	Whole Blood (Peripheral) or Extracted DNA	3–4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["SNRPN gene variants", "Deletions", "Duplications", "Methylation defects", "Uniparental disomy (UPD)"] Parameters [] Preparation ["A mandatory genetic counseling session is required prior to testing."] Indications ["Clinical suspicion of Prader-Willi syndrome", "Documented family history of Prader-Willi syndrome"] Measurement technique Confirm with laboratory Codes LOINC: 82939-0 ICD-10: Q87.1, Z13.79, Z15.09 Clinical summary This test analyzes the SNRPN gene to detect genetic changes associated with Prader-Willi syndrome.
TEST-3964 VIPAS39 Gene Genetic Test for Arthrogryposis, Renal Dysfunction, and Cholestasis Type 2 This diagnostic test evaluates the VIPAS39 gene for pathogenic variants associated with Arthrogryposis-Renal Dysfunction-Cholestasis (ARCS) type 2.	Peripheral whole blood; buccal swab as alternative	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 VIPAS39 gene", "Presence of mutations causing ARCS type 2"] Parameters [{"name": "Analytical Sensitivity", "reference_range": "≥ 99.9%"}, {"name": "Methodology", "reference_range": "Next Generation Sequencing (NGS)"}] Preparation ["No specific fasting required", "Inform lab of any recent blood transfusions or transplants"] Indications ["Suspected diagnosis of ARCS type 2", "Familial variant screening", "Research purposes"] Measurement technique Confirm with laboratory Codes LOINC: 94041-0 ICD-10: Q87.8 Clinical summary This diagnostic test evaluates the VIPAS39 gene for pathogenic variants associated with Arthrogryposis-Renal Dysfunction-Cholestasis (ARCS) type 2.

Category overview

Genetic Syndromes: overview

Navigating a complex presentation of overlapping physical, developmental, and intellectual symptoms in a child demands highly precise diagnostic care to unlock the most effective support. Within our elite Genetics services, testing for Genetic Syndromes maps your child's DNA or chromosomes to confirm specific multi-system conditions, such as Down, Marfan, or Prader-Willi syndromes. Utilizing cutting-edge cytogenetic and molecular technology, this critical diagnostic screening ends the diagnostic odyssey, providing the definitive data needed to safely guide specialized pediatric neurology care, targeted surgical interventions, and tailored educational therapies. Widely respected for sensitive pediatric diagnostics among the best diagnostic labs in the UAE, DNA Labs guarantees absolute patient confidentiality, unparalleled diagnostic accuracy, and remarkably fast turnaround times. Support your child’s comprehensive care—schedule your genetic syndromes testing in UAE, coordinate a comfortable home sample collection, or reach out to our specialized genetic counselors today.

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