Single Gene Disorders tests in Dubai & UAE

Compare available Single Gene 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

133

Listed price range

2,800.00–4,000.00 AED

Clinical preparation

Confirm test-specific instructions with your clinician or laboratory.

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Single Gene Disorders test prices

Showing 61–75 of 133 matching tests.

Single Gene Disorders diagnostic tests, details, and listed prices
Test and description	Specimen	Typical duration	Price	Options
TEST-3298 KLF1 Gene Congenital Dyserythropoietic Anaemia Type 4 (CDA IV) Genetic Test This genetic test identifies mutations within the KLF1 gene, confirming a diagnosis of Congenital Dyserythropoietic Anaemia Type 4 (CDA IV).	Peripheral whole blood (EDTA), 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 ["KLF1 gene mutations (missense, nonsense, splice, small indels)", "Full coding region of the KLF1 gene"] Parameters [] Preparation [] Indications ["Definitive molecular diagnosis of CDA IV", "Genetic confirmation in suspected cases"] Measurement technique Confirm with laboratory Codes LOINC: 101606-2 ICD-10: D64.4, Z15.89, Z13.84 Clinical summary This genetic test identifies mutations within the KLF1 gene, confirming a diagnosis of Congenital Dyserythropoietic Anaemia Type 4 (CDA IV).
TEST-5187 KRT85 Gene Analysis (Ectodermal Dysplasia Type 4, Hair/Nail Type) Test This test analyzes the KRT85 gene to identify pathogenic variants associated with Ectodermal Dysplasia Type 4, characterized by hair and nail abnormalities.	Peripheral Whole Blood, Extracted DNA, 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 KRT85 gene", "Single-nucleotide variants (SNVs)", "Small indels", "Copy number variants"] Parameters [] Preparation ["Do not discontinue prescribed medication without consulting your doctor.", "Ensure pre-test counselling is received."] Indications ["Confirmation of clinical diagnosis of Ectodermal Dysplasia Type 4", "Guidance for management", "Informed family planning"] Measurement technique Confirm with laboratory Codes LOINC: 81247-7 ICD-10: Q82.4, Z15.89, Q84.2 Clinical summary This test analyzes the KRT85 gene to identify pathogenic variants associated with Ectodermal Dysplasia Type 4, characterized by hair and nail abnormalities.
TEST-2417 LAMA1 Gene Poretti-Boltshauser Syndrome Genetic Test This genetic test evaluates the LAMA1 gene for pathogenic variants associated with Poretti-Boltshauser syndrome.	Peripheral Blood 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 LAMA1 gene", "Coding exons and splice junctions of LAMA1"] Parameters [] Preparation ["No fasting required", "No medication adjustments normally needed", "Inform collection team of recent blood transfusions or immunosuppressive therapy", "Pre-test genetic counselling session is mandatory"] Indications ["Suspected Poretti-Boltshauser syndrome", "Congenital cerebellar dysplasia with retinal dystrophy", "Family history of LAMA1-related disorders"] Measurement technique Confirm with laboratory Codes LOINC: 50546-8 ICD-10: Q04.8, H35.5 Clinical summary This genetic test evaluates the LAMA1 gene for pathogenic variants associated with Poretti-Boltshauser syndrome.
TEST-6075 LCAT Gene Deficiency Genetic Test This genetic test detects pathogenic mutations in the LCAT gene associated with LCAT deficiency.	Whole Blood or Buccal Swab	3 to 4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["LCAT gene mutations", "Point mutations", "Insertions/Deletions", "Copy Number Variations"] Parameters [] Preparation ["No fasting required", "No special preparation needed", "Continue regular medications unless instructed otherwise"] Indications ["Clinical suspicion of LCAT deficiency", "Family history of LCAT deficiency", "Carrier screening", "Genetic counseling"] Measurement technique Confirm with laboratory Codes LOINC: 50397-9 ICD-10: E78.6 Clinical summary This genetic test detects pathogenic mutations in the LCAT gene associated with LCAT deficiency.
TEST-4560 LFNG Gene Spondylocostal Dysostosis, Autosomal Recessive Type 3 DNA Test This diagnostic test evaluates for pathogenic variants in the LFNG gene associated with autosomal recessive spondylocostal dysostosis type 3.	Whole Blood 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 ["Pathogenic variants in the LFNG gene"] Parameters [] Preparation ["No specific fasting required", "Do not discontinue prescribed vitamin A or retinoid therapy without consulting a specialist"] Indications ["Suspected spondylocostal dysostosis type 3", "Family history of spondylocostal dysostosis type 3"] Measurement technique Confirm with laboratory Codes LOINC: 81255-6 ICD-10: Q76.49, Q76.3 Clinical summary This diagnostic test evaluates for pathogenic variants in the LFNG gene associated with autosomal recessive spondylocostal dysostosis type 3.
TEST-3590 LHX4 Gene Sequencing for Combined Pituitary Hormone Deficiency Type 4 (NGS) Test This test detects pathogenic variants in the LHX4 gene associated with Combined Pituitary Hormone Deficiency Type 4.	Peripheral Whole Blood, FTA Card 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 LHX4 gene"] Parameters [] Preparation ["No fasting required"] Indications ["Diagnosis of Combined Pituitary Hormone Deficiency Type 4", "Family planning when a parent carries a known pathological variant"] Measurement technique Confirm with laboratory Codes LOINC: 21636-6 ICD-10: E23.0 Clinical summary This test detects pathogenic variants in the LHX4 gene associated with Combined Pituitary Hormone Deficiency Type 4.
TEST-4296 LMNA Gene Test for Emery-Dreifuss Muscular Dystrophy Type 2 (NGS) This diagnostic test evaluates the LMNA gene for pathogenic variants associated with Emery-Dreifuss Muscular Dystrophy type 2.	Whole blood (3 mL) 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 ["LMNA gene sequence", "Deletion/Duplication analysis (CNV)"] Parameters [] Preparation [] Indications ["Suspected Emery-Dreifuss Muscular Dystrophy type 2", "Family history of Emery-Dreifuss Muscular Dystrophy"] Measurement technique Confirm with laboratory Codes LOINC: 94487-8 ICD-10: G71.09, Z15.89, Z82.79 Clinical summary This diagnostic test evaluates the LMNA gene for pathogenic variants associated with Emery-Dreifuss Muscular Dystrophy type 2.
TEST-4764 LMX1B Gene Nail‑Patella Syndrome DNA Test This test detects pathogenic variants in the LMX1B gene, providing a molecular diagnosis for Nail-Patella Syndrome (NPS).	Whole Blood, FTA Card, or Buccal Swab	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 LMX1B gene", "Full exon and intronic boundary coverage"] Parameters [] Preparation ["No specific fasting required.", "Inform the lab if currently on high-dose immunosuppressants."] Indications ["Suspected Nail-Patella Syndrome (NPS)", "Family history of NPS", "Differential diagnosis of hereditary skeletal dysplasias"] Measurement technique Confirm with laboratory Codes LOINC: 82377-1 ICD-10: Q87.2 Clinical summary This test detects pathogenic variants in the LMX1B gene, providing a molecular diagnosis for Nail-Patella Syndrome (NPS).
TEST-2958 LONP1 Gene Sequencing for CODAS Syndrome (NGS) Test This diagnostic test evaluates the LONP1 gene for mutations associated with CODAS syndrome.	Whole blood (EDTA) 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 ["LONP1 gene coding region", "Single-nucleotide variants", "Small insertions/deletions"] Parameters [] Preparation ["No fasting required", "No special preparation needed"] Indications ["Suspected CODAS syndrome", "Family history of CODAS syndrome", "Carrier status clarification", "Prenatal diagnosis"] Measurement technique Confirm with laboratory Codes LOINC: 21636-6 ICD-10: Q87.8, Z13.71 Clinical summary This diagnostic test evaluates the LONP1 gene for mutations associated with CODAS syndrome.
TEST-6026 MCCC2 Gene NGS Test for 3‑Methylcrotonyl‑CoA Carboxylase 2 Deficiency This test detects pathogenic variants in the MCCC2 gene to diagnose 3-methylcrotonyl-CoA carboxylase 2 deficiency.	Peripheral Blood (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 MCCC2 gene"] Parameters [] Preparation ["Clinical history required", "Genetic counselling session required", "Pedigree chart of affected family members required"] Indications ["Suspected 3-methylcrotonyl-CoA carboxylase 2 deficiency", "Family history of the disorder", "Carrier screening", "Family planning"] Measurement technique Confirm with laboratory Codes LOINC: 35128-8 ICD-10: E71.19 Clinical summary This test detects pathogenic variants in the MCCC2 gene to diagnose 3-methylcrotonyl-CoA carboxylase 2 deficiency.
TEST-2626 MED12 Gene Lujan-Fryns Syndrome Genetic Test This test evaluates the MED12 gene for pathogenic variants associated with Lujan-Fryns Syndrome.	Peripheral Whole Blood (EDTA)	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 MED12 gene", "Copy Number Variations (CNV) in MED12"] Parameters [] Preparation ["No fasting required", "No specific medication or diet restrictions"] Indications ["Suspected Lujan-Fryns Syndrome", "Family history of MED12-related disorders", "Genetic counseling for reproductive planning"] Measurement technique Confirm with laboratory Codes LOINC: 51968-8 ICD-10: Q87.8 Clinical summary This test evaluates the MED12 gene for pathogenic variants associated with Lujan-Fryns Syndrome.
TEST-5071 MLPH Gene Griscelli Syndrome Type 3 Genetic Test This test analyzes the MLPH gene to detect mutations associated with Griscelli syndrome type 3.	Peripheral Blood or FTA Card	3–4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["MLPH gene mutations", "Exons and splice sites of the MLPH gene"] Parameters [] Preparation ["No specific fasting or medication changes required."] Indications ["Suspected Griscelli syndrome type 3", "Differentiation from other syndromic hypopigmentation disorders"] Measurement technique Confirm with laboratory Codes LOINC: 93852-3 ICD-10: E70.39 Clinical summary This test analyzes the MLPH gene to detect mutations associated with Griscelli syndrome type 3.
TEST-2896 MNX1 Gene Currarino Syndrome Genetic Test This diagnostic test evaluates the MNX1 gene for mutations associated with Currarino syndrome.	Whole Blood, Extracted DNA, or FTA Card Blood Spot	3 to 4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["MNX1 gene coding region", "Pathogenic variants"] Parameters [] Preparation ["Consult with a pediatric genetic counselor for pre-test consultation", "Minimal requirements: small blood draw, FTA card, or extracted DNA"] Indications ["Suspected Currarino syndrome", "Familial risk assessment for Currarino syndrome", "Pre-surgical planning for anorectal malformations"] Measurement technique Confirm with laboratory Codes LOINC: 21639-0 ICD-10: Q87.8 Clinical summary This diagnostic test evaluates the MNX1 gene for mutations associated with Currarino syndrome.
TEST-5416 MYH3 Gene Distal Arthrogryposis Type 2A Genetic Test This test confirms the genetic etiology of distal arthrogryposis type 2A (DA2A) by analyzing the MYH3 gene for pathogenic variants.	Peripheral Whole Blood, 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 ["MYH3 gene sequence", "Single-nucleotide variants (SNVs)", "Small insertions and deletions (indels)", "Copy-number variations (CNVs)"] Parameters [] Preparation ["No specific fasting required", "No medication or diet changes needed prior to sample collection"] Indications ["Clinical suspicion of distal arthrogryposis type 2A (DA2A)", "Confirmation of Freeman-Sheldon syndrome"] Measurement technique Confirm with laboratory Codes LOINC: 55233-1 ICD-10: Q74.3 Clinical summary This test confirms the genetic etiology of distal arthrogryposis type 2A (DA2A) by analyzing the MYH3 gene for pathogenic variants.
TEST-3396 NANOS1 Gene Oligoasthenoteratozoospermia (OAT) Genetic Test This genetic test evaluates for pathogenic variants in the NANOS1 gene associated with severe male infertility (OAT).	Peripheral whole blood (EDTA) or dried blood spot on FTA card	21 calendar days	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in NANOS1 gene exons", "Pathogenic variants in NANOS1 gene flanking splice-site regions"] Parameters [] Preparation [] Indications ["Diagnosis of OAT", "Genetic counselling for male infertility", "Planning for assisted reproductive technologies (ART)", "Pre-implantation genetic testing (PGT-M)"] Measurement technique Confirm with laboratory Codes LOINC: 21636-6 ICD-10: N46.11 Clinical summary This genetic test evaluates for pathogenic variants in the NANOS1 gene associated with severe male infertility (OAT).

Category overview

Single Gene 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 Single Gene Disorders evaluates your DNA for a curated selection of mutations known to cause distinct monogenic conditions. Utilizing state-of-the-art sequencing technology, this empowering molecular screening provides the critical clarity needed to assess carrier status, safely guiding informed family planning, IVF decisions, and specialized reproductive counseling. Widely respected for compassionate family planning among top diagnostic labs in the UAE, DNA Labs ensures absolute patient confidentiality, uncompromising analytical accuracy, and rapid, dependable reporting. Safeguard your family’s future—schedule your single gene disorders testing in UAE, arrange a comfortable clinic or home sample collection, or connect with our dedicated reproductive specialists.

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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.