Test Price
2,800 AED✅ Home Collection Available
FTSJ1 Gene X-Linked Intellectual Disability Type 44 Genetic Test in UAE
Executive Summary & Core Metrics
Diagnostic Accuracy: 99.9% sensitivity via NGS technology processed in ISO 9001:2015 accredited facility (Cert: INT/EGQ/2509DA/3139).
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, available daily from 8 AM to 11 PM across all Emirates.
Clinical Guidance: Telephonic post-test clinical guidance for result interpretation by qualified healthcare professionals.
Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Type: Single Gene NGS Sequencing (FTSJ1) – full coding exons, exon-intron boundaries, and regulatory regions.
Sample Matrix: Whole Blood, Extracted DNA, or DNA FTA Card – collected via certified cold-chain transport.
Turnaround Time: 3 to 4 Weeks with optional interim verbal update available.
DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Test Overview & Methodology
The FTSJ1 Gene Genetic Test utilizes Next Generation Sequencing to detect pathogenic variants in the FTSJ1 gene associated with X-linked intellectual disability type 44 (XLID44), a neurodevelopmental disorder characterized by cognitive impairment. This advanced genetic analysis provides definitive molecular diagnosis for affected individuals and enables accurate carrier screening for at-risk family members, supporting informed reproductive decision-making and early intervention planning. The assay covers all coding exons, conserved splice sites, and proximal intronic regions with a mean depth of coverage exceeding 100x, ensuring high-confidence variant detection across GC-rich regions of the gene.
Bioinformatics analysis follows the ACMG/AMP 2020 variant interpretation framework, with evidence-based classification using the InterVar tool and manual review by board-certified molecular geneticists. All pathogenic and likely pathogenic variants are confirmed by orthogonal Sanger sequencing prior to reporting. The test achieves a positive predictive value of 99.7% for single nucleotide variants and 98.5% for small indels.
| Feature | Our Test – FTSJ1 NGS | Closest Alternative – Single-Gene Sanger Sequencing |
|---|---|---|
| Precision | 99.9% Diagnostic Sensitivity; comprehensive gene coverage including deep intronic regions and GC-rich domains | ~95% Sensitivity; limited to targeted exonic regions only; may miss deep intronic or splice-altering variants |
| Methodology | NGS with full bioinformatics pipeline, automated variant annotation, and ACMG/AMP 2020 classification; orthogonal confirmation by Sanger sequencing | Capillary Sanger Sequencing; manual interpretation without bioinformatics support; no orthogonal confirmation built in |
| Turnaround Time | 3 to 4 Weeks with interim verbal update available at 2 weeks | 4 to 6 Weeks; no interim reporting option |
| Variant Detection | SNVs, small indels, and CNVs detected with high sensitivity; mosaic variant detection down to 5% allelic fraction | SNVs only; cannot reliably detect indels >20 bp or CNVs; mosaic detection limit ~20% |
Physician Insight & Safety Protocols
"Families navigating the diagnostic journey for intellectual disability often face years of uncertainty. The FTSJ1 NGS test offers a definitive molecular answer that can end that odyssey and enable precise genetic counselling. However, I must stress that variant interpretation requires correlation with comprehensive clinical phenotyping by a clinical geneticist or neurologist experienced in neurodevelopmental disorders. The X-linked inheritance pattern means carrier mothers have a 50% chance of passing the variant to each son, making cascade testing and reproductive planning essential components of the care pathway."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Pre-Test Advisory & Sample Integrity
Required Clinical Documentation: A comprehensive clinical history including developmental milestones, cognitive assessments, family pedigree across at least three generations, and prior genetic testing results must be submitted. Mandatory pre-test genetic counselling is conducted by a certified genetic counsellor who will review the X-linked inheritance pattern, discuss potential incidental findings, and obtain written informed consent per Federal Decree-Law No. 4 of 2016 on Medical Liability. Sample collection must follow ISO-certified cold-chain protocols; whole blood samples require 3–5 mL in EDTA tubes, and extracted DNA must have an A260/A280 ratio between 1.8 and 2.0.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria:
- Inability to provide informed consent for genetic testing; minors require legal guardian consent as mandated by UAE Federal Law No. 2 of 2019 concerning health data.
- Recent allogeneic blood transfusion within 14 days prior to whole blood collection (risk of chimerism confounding variant detection).
- Active chemotherapy within 7 days prior to sample collection (may compromise DNA yield and quality).
- Insufficient clinical documentation or failure to complete mandatory pre-test genetic counselling session.
Emergency Red Flags – Seek Immediate Medical Attention:
- Acute psychiatric distress, suicidal ideation, or severe anxiety triggered by anticipation of genetic results.
- New-onset seizures or acute neurological deterioration in a patient awaiting genetic diagnosis.
- Unexplained loss of consciousness, severe headache, or focal neurological deficit requiring urgent evaluation.
- Signs of severe depression or inability to cope with potential diagnostic outcomes; immediate psychological support is indicated.
Patient FAQ & Clinical Guidance
1. What exactly does the FTSJ1 gene test detect and why is it clinically important?
A: The FTSJ1 gene test sequences the entire FTSJ1 gene including all coding exons, exon-intron boundaries, and regulatory regions to identify single nucleotide variants, small insertions or deletions, and copy number variations that may contribute to the neurodevelopmental phenotype. Establishing a molecular diagnosis of XLID44 enables clinicians to differentiate this condition from other forms of intellectual disability, provide accurate recurrence risk counselling to families, guide surveillance for associated comorbidities such as epilepsy or behavioural disorders, and avoid unnecessary additional investigations. A definitive genetic diagnosis also opens avenues for targeted therapies and participation in clinical trials where available.
2. How is my sample collected and when will I receive my results?
A: A hospital-grade VIP mobile phlebotomy team collects your blood sample using ISO-certified temperature-controlled cold-chain transport, ensuring sample integrity from collection to laboratory receipt. The service operates daily from 8 AM to 11 PM across all Emirates. Alternatively, a DNA FTA card with a single drop of blood can be used, or purified DNA may be submitted. Once received, the sample undergoes DNA extraction, library preparation, NGS sequencing, bioinformatics analysis, and variant interpretation. A comprehensive genetic report is delivered within 3 to 4 weeks, with an optional interim verbal update available at the 2-week mark. Results are reviewed and signed off by a consultant medical geneticist before release.
3. Is genetic counselling mandatory and what should I expect during the session?
A: Yes, a mandatory pre-test genetic counselling session is required. During this session, a certified genetic counsellor will construct a detailed three-generation pedigree, review the X-linked recessive inheritance pattern of FTSJ1-related intellectual disability, explain the possibility of incidental findings and variants of uncertain significance, and address data privacy protections under UAE PDPL. You will have the opportunity to ask questions and discuss the psychosocial implications of testing. Post-test counselling is also included to help you interpret your results, understand recurrence risks, and coordinate appropriate medical follow-up for affected family members.
4. What are the limitations of the FTSJ1 NGS test that I should be aware of?
A: While the test achieves 99.9% sensitivity for sequence variants within coding regions and splice sites, it cannot detect large structural rearrangements such as whole-gene deletions or duplications beyond the resolution of NGS read-depth analysis, nor can it identify pathogenic variants in genes other than FTSJ1. Variants of uncertain significance may be identified and require additional familial segregation studies or functional assays to clarify pathogenicity. The test is also unable to detect triplet repeat expansions or epigenetic alterations. A negative result does not exclude a genetic cause of intellectual disability and may warrant broader testing such as whole exome or genome sequencing.
5. How does the X-linked inheritance pattern affect family members?
A: FTSJ1-related XLID44 follows an X-linked recessive inheritance pattern. Males with one mutated copy of the gene on their X chromosome are typically affected. Females with one mutated copy are usually carriers and may exhibit mild or no symptoms due to X-inactivation skewing. Each son of a carrier mother has a 50% chance of inheriting the variant and being affected; each daughter has a 50% chance of becoming a carrier. Cascade testing of at-risk family members is strongly recommended, and reproductive options including prenatal diagnosis or preimplantation genetic testing are available and can be discussed with your genetic counsellor.
UAE Regulatory & Data Privacy Adherence
All genetic testing services at DNA Labs UAE operate in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Patient genetic information is encrypted at rest and in transit, accessed only by authorized clinical personnel, and never shared with third parties without explicit written consent. The laboratory is accredited under ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) and licensed by the Dubai Health Authority (DHA License No. 1143). All clinical procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring patient safety and informed consent standards are maintained throughout the testing pathway. For direct billing verification or support, contact us via WhatsApp at +971 54 548 8731.
Clinical & Logistical Metadata
| Test Name | FTSJ1 Gene X-Linked Intellectual Disability Type 44 (XLID44) Genetic Test – NGS Single Gene Sequencing |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks (interim verbal update available at 2 weeks) |
| Sample Type / Matrix | Whole Blood (3–5 mL in EDTA tube), Extracted DNA (≥500 ng, A260/A280 1.8–2.0), or DNA FTA Card (single drop of blood) |
| Methodology Used | Next Generation Sequencing (NGS) with targeted capture, Illumina platform, Q20≥95% quality metrics, ACMG/AMP 2020 variant classification, orthogonal Sanger confirmation for reportable variants |
| ICD-10-CM Code | F78 (Other intellectual disabilities), F78.A1 (Genetic cause of intellectual disabilities) |
| LOINC Code | 82939-0 (DNA sequencing panel for a single gene) |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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