TNFRSF11A Gene Sequencing for Autosomal Recessive Osteopetrosis Type 7 (NGS) in UAE | 2800 AED | DNA Labs UAE

Our NGS assay reads every exon and flanking intronic region of the TNFRSF11A gene with deep coverage (minimum 100×), identifying single‑nucleotide variants, small insertions and deletions, and copy‑number changes that Sanger sequencing routinely misses.

Conventional Sanger sequencing typically targets only the most common mutation hotspots, risking false‑negative results in atypical or paediatric presentations. NGS, coupled with our bioinformatics pipeline aligned to ACMG/AMP 2015 standards and DHA genomic reporting requirements, ensures comprehensive detection and is the gold standard for autosomal recessive osteopetrosis type 7 diagnosis. Additionally, NGS enables concurrent analysis of other osteopetrosis‑associated genes (e.g., TCIRG1, CLCN7, OSTM1) in a single assay if clinically indicated.

Yes, provided that both parents or the legal guardian sign the DHA‑mandated genomic consent form after a documented genetic counselling session.

Testing for minors follows the requirements of Federal Decree-Law No. 4 of 2016 on Medical Liability, which governs consent for minors and individuals with diminished capacity. A pre‑test counselling session with our Consultant Medical Geneticist is mandatory. Sample collection is performed with minimal intervention via peripheral venipuncture or heel-stick on an FTA card within a sterile home environment. All genetic data of minors is stored with enhanced security under Federal Decree-Law No. 45 of 2021 (PDPL).

A DHA‑trained phlebotomist arrives at your residence with a temperature‑monitored transport box, collecting either whole blood in EDTA tubes, an extracted DNA sample, or a single drop of blood on an FTA card.

Our logistics comply with ISO 9001:2015 and UAE PDPL data handling standards. The FTA card option stabilises DNA at ambient temperature and is ideal for remote locations or paediatric collections. Samples are tracked via unique barcode from your doorstep to our DHA‑licensed laboratory (License: 1143) at Premises 105, Floor 1, Building 33, Dubai Healthcare City. Real‑time status updates are shared via WhatsApp. All personnel undergo annual competency assessments and maintain valid DHA fitness certifications.

A confirmed molecular diagnosis enables targeted surveillance, genetic counselling for at‑risk family members, and pre‑implantation genetic testing for reproductive planning.

Osteopetrosis type 7 is a severe autosomal recessive disorder. Once a pathogenic biallelic variant is identified, first‑degree relatives can undergo cascade testing to determine carrier status. For couples at risk, pre‑implantation genetic testing (PGT‑M) and prenatal diagnosis are available under DHA oversight. Clinically, the diagnosis warrants regular ophthalmological, audiological, and haematological monitoring to detect and manage complications early.

Turnaround time is 3–4 weeks from the date of sample collection. Results are delivered via secure encrypted portal and a telephonic interpretation session with our Consultant Medical Geneticist.

You will receive a secure login to our patient portal where the PDF report can be downloaded. Within five business days of report release, Lina Osama Zaki Quteineh or a member of her genetics team will call you to explain the findings, answer your questions, and coordinate referrals to specialist services (orthopaedics, haematology, ophthalmology) as needed. Arabic‑speaking counsellors are available upon request.