Test Price
2,800 AED✅ Home Collection Available
MKKS Gene McKusick-Kaufman Syndrome Genetic Test in UAE | 2800 AED | DHA Certified
Executive Summary & Core Metrics
Next-Generation Sequencing (NGS) analysis of the MKKS gene for McKusick-Kaufman syndrome — a rare autosomal recessive disorder affecting limb, genitourinary, and cardiac development. Performed in a DHA-certified laboratory (License: 1143) with ISO 9001:2015 accreditation, providing diagnostic sensitivity of 99.9%. Includes mandatory pre- and post-test genetic counselling by a Consultant Medical Genetics specialist.
Test Overview & Methodology
The MKKS Gene NGS Test utilizes Next Generation Sequencing to analyze the entire coding region of the MKKS gene associated with McKusick-Kaufman syndrome — a rare autosomal recessive disorder characterized by hydrometrocolpos, postaxial polydactyly, and congenital heart defects. This advanced assay detects pathogenic variants with high accuracy, enabling early diagnosis and proactive medical planning for patients and their families.
| Feature | Our Test — MKKS NGS | Closest Alternative — Targeted Sanger Sequencing |
|---|---|---|
| Precision | Full gene coverage including deep intronic and regulatory regions | Limited to pre-selected exon hotspots only |
| Methodology | NGS (Next Generation Sequencing) — Gold Standard | Sanger Sequencing — Lower throughput, higher per-exon cost |
| Turnaround Time | 3 to 4 Weeks | 6 to 8 Weeks (for equivalent coverage) |
| Variant Detection | SNVs, Indels, CNVs, and novel variants simultaneously | SNVs and small Indels only; CNVs require separate MLPA testing |
Physician Insight & Safety Protocols
"The MKKS NGS test provides a definitive molecular diagnosis for families navigating the uncertainty of McKusick-Kaufman syndrome. I emphasize that genetic results must always be correlated with clinical findings by your treating physician — a positive result confirms the diagnosis, while a negative result does not entirely exclude the condition if clinical suspicion remains high. Genetic counselling before and after testing is non-negotiable for informed decision-making."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA ID: 9294403
Medication Advisory
Medication Warning:
Do not discontinue any prescribed medication or alter your treatment regimen without consulting your licensed physician. Genetic test results inform clinical management but do not independently dictate pharmacotherapy changes.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria (Do Not Proceed Without Physician Clearance)
- Recent allogeneic blood transfusion within the preceding 14 days (may confound germline DNA analysis).
- Active hematological malignancy undergoing chemotherapy (potential somatic DNA interference).
- Prior allogeneic bone marrow transplantation (donor DNA may be detected in whole blood samples).
- Inability to provide informed consent or to participate in pre-test genetic counselling.
Emergency Red Flags — Seek Immediate Medical Attention
- Neonatal respiratory distress with abdominal distension (possible hydrometrocolpos emergency).
- Acute urinary retention in a female infant or child.
- Cyanotic episodes or signs of congenital heart failure in a child with polydactyly.
- Severe abdominal pain with palpable pelvic mass in a pre-pubertal female.
Patient FAQ & Clinical Guidance
1. What is the MKKS Gene Genetic Test and why is it performed?
The MKKS Gene Genetic Test is a comprehensive molecular diagnostic assay that sequences the entire MKKS gene to identify pathogenic variants responsible for McKusick-Kaufman syndrome, a rare autosomal recessive disorder. It is performed to confirm clinical suspicion in patients with hallmark features such as postaxial polydactyly, hydrometrocolpos, and congenital heart defects, enabling precise medical management and family planning.
2. How is the sample collected for the MKKS NGS test and is it painful?
Sample collection is minimally invasive and can be performed using a standard venipuncture for whole blood, a painless finger-prick for a single drop of blood on an FTA card, or submission of previously extracted DNA through our VIP mobile phlebotomy and temperature-controlled cold-chain home collection service available across all Emirates daily from 8 AM to 11 PM. Home collection is conducted by a certified phlebotomist for maximum comfort and safety.
3. What does a positive MKKS gene test result mean for me or my child?
A positive result confirms the presence of biallelic pathogenic variants in the MKKS gene, establishing a definitive molecular diagnosis of McKusick-Kaufman syndrome and enabling targeted surveillance for associated complications including renal anomalies, cardiac defects, and reproductive tract malformations throughout the patient's lifetime. Comprehensive genetic counselling is provided to discuss recurrence risks and reproductive options.
4. What is the turnaround time for the MKKS NGS test?
The standard turnaround time is 3 to 4 weeks from sample receipt at our Dubai Healthcare City laboratory. This allows for comprehensive sequencing, bioinformatics analysis, and clinical interpretation of identified variants before reporting.
UAE Regulatory & Data Privacy Adherence
Clinical & Logistical Metadata
| Test Name | MKKS Gene (McKusick-Kaufman Syndrome) Next-Generation Sequencing |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot |
| Methodology Used | Next-Generation Sequencing (NGS) – Full Gene Coverage |
| ICD-10-CM Code | Q87.8 |
| LOINC Code | 55229-6 |
| DHA Facility License & Laboratory Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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