Test Price
2,800 AEDโ Home Collection Available
NDST1 Gene Analysis (Intellectual Disability, Autosomal Recessive Type 46) Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 certified NGS processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP mobile phlebotomy & temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM for peripheral blood or FTA card samples.
- Clinical Guidance: Complimentary post-test telephonic result interpretation by a DHA-licensed genetic counsellor.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731 before your visit.
Test Overview & Methodology
This next-generation sequencing (NGS) test analyzes the entire coding region of the NDST1 gene to detect pathogenic variants associated with autosomal recessive intellectual disability type 46. It is indicated for neurologists, clinical geneticists, and paediatricians evaluating unexplained developmental delay, hypotonia, or family history of neurogenetic disorders. The assay delivers definitive molecular diagnosis and informs personalized management strategies including early intervention planning and recurrence risk counselling.
| Feature | NDST1 NGS Targeted Test | Whole Exome Sequencing Alternative |
|---|---|---|
| Targeted Coverage Depth | >100ร uniform coverage of NDST1 exons | Variable coverage; may underrepresent critical regions |
| Analytical Sensitivity | >99.9% for single nucleotide variants and indels | ~95% depending on capture kit and bioinformatics pipeline |
| Turnaround Time | 3โ4 weeks | 6โ12 weeks |
| Cost (AED) | 2,800 | 5,000โ8,000+ |
| Regulatory Clearance | DHA-licensed facility, ISO 9001:2015 certified | Dependent on provider laboratory |
Physician Insight & Safety Protocols
Clinical Note from Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA: 9294403)
โEvery genetic result is a piece of a larger clinical puzzle. While an NDST1 mutation can confirm a diagnosis of intellectual disability type 46 and guide recurrence risk counselling, it must always be correlated with neurodevelopmental assessments, brain imaging, and family history. A negative report does not exclude other genetic or environmental causes, so continued follow-up remains essential.โ
Advisory Notice โ Medication Continuity
โ ๏ธ Important Medication Advisory
Do not discontinue any prescribed medication without consulting your treating physician. Antiepileptics, psychotropic drugs, or any chronic therapy must be maintained unless your doctor directs otherwise.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Severe bleeding disorder (INR > 2.0, platelet count < 40ร109/L) unless an FTA card sample is used; suspected acute neurological decompensation (e.g., new-onset seizures, loss of consciousness) โ stabilize first before proceeding.
- Red Flags โ Seek Immediate Emergency Care: Rapid loss of developmental milestones, status epilepticus, signs of raised intracranial pressure (vomiting, lethargy, bulging fontanelle in infants).
Patient FAQ & Clinical Guidance
1. What is the NDST1 gene test and why is it recommended?
NDST1 gene sequencing identifies mutations causing autosomal recessive intellectual disability type 46 for accurate diagnosis and family planning. It is recommended for children with unexplained developmental delay, hypotonia, or distinctive facial features, and for families with a history of similar disabilities. A genetic counselling session provides essential pre-test education and pedigree analysis.
2. How is the test performed and what sample is needed?
A small blood sample or DNA from an FTA card is collected via mobile phlebotomy and analyzed with NGS. Our DHA-licensed phlebotomist visits your home between 8 AM and 11 PM to draw blood or collect a single drop on an FTA card. Extracted DNA can also be submitted. The sample is transported in ISO-certified cold-chain conditions to our molecular laboratory, with results available in 3โ4 weeks.
3. What does a positive result mean for my child's future management?
A positive result confirms the genetic cause of intellectual disability, guiding therapy, prognosis, and recurrence risk. It enables targeted early intervention programs, informs medication choices if epilepsy is associated, and allows accurate genetic risk counselling for future pregnancies. Our post-test clinical guidance call will explain the implications in detail.
4. Can this test be performed on other family members?
Yes, targeted variant testing for first-degree relatives is available once a pathogenic NDST1 mutation is identified in the index case. This enables carrier testing for parents and siblings, and prenatal diagnosis for at-risk pregnancies. Please discuss family testing options with your genetic counsellor during the post-test consultation.
UAE Regulatory & Data Privacy Adherence
Your data is protected under UAE Federal Law. This laboratory operates in full compliance with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ governing the collection, processing, and storage of genetic and personal data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields โ ensuring secure digital health information exchange.
- Federal Decree-Law No. 4 of 2016 on Medical Liability โ establishing clinical testing safety standards and informed consent requirements.
All genetic results are stored in encrypted, access-controlled databases with strict audit trails. Written informed consent is obtained prior to sample collection and genetic analysis.
Clinical & Logistical Metadata
| Test Name | NDST1 Gene Analysis (Intellectual Disability, Autosomal Recessive Type 46) |
| Price (AED) | 2,800 |
| Turnaround Time | 3โ4 weeks |
| Sample Type / Matrix | Peripheral whole blood (3โ5 mL in EDTA tube) or FTA card dried blood spot; extracted DNA accepted |
| Methodology Used | Next-Generation Sequencing (NGS) โ targeted gene panel with >100ร mean depth, Sanger confirmation of detected variants |
| ICD-10-CM Code | F79 (Unspecified intellectual disabilities), F78.A1 (Genetic intellectual disabilities) |
| LOINC Code | 82326-0 (Genetic test results document) |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab Branding: DNA Labs UAE |
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