BLM Gene (Bloom Syndrome) Genetic Test in UAE – NGS Sequencing | 2,800 AED

Executive Summary & Core Metrics

Diagnostic Accuracy: 99.9% analytical sensitivity through ISO-compliant next-generation sequencing (NGS).
Turnaround Time: Results within 3–4 weeks from sample receipt.
Sample Collection: VIP mobile phlebotomy & temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM.
Clinical Support: Post-result teleconsultation with a DHA-licensed genetics specialist.
Insurance Verification: Direct coverage check via WhatsApp at +971 54 548 8731.

Book Home Collection – 800 AED WhatsApp for Consultation Booking

Test Overview & Methodology

BLM Gene (Bloom Syndrome) Genetic Test is a comprehensive next-generation sequencing (NGS) analysis of the entire BLM gene. This assay detects pathogenic variants responsible for Bloom syndrome, a rare autosomal recessive disorder characterized by growth deficiency, pronounced sun sensitivity, telangiectatic erythema, and a markedly elevated lifetime cancer risk. Early molecular diagnosis enables tailored oncological surveillance, family cascade testing, and informed reproductive planning.

Our laboratory employs a targeted NGS panel that captures all coding exons, canonical splice sites, and selected deep intronic regions of the BLM gene. The methodology delivers >99.9% analytical sensitivity and specificity, validated against ClinVar and gnomAD population databases. Each variant is interpreted according to ACMG/AMP guidelines, and confirmed via orthogonal Sanger sequencing when required.

Feature	Our BLM NGS Test	Standard Sanger Sequencing
Methodology	Next-Generation Sequencing (NGS) – full gene coverage	Targeted Sanger sequencing (selected exons)
Detection Rate	>99% of pathogenic variants (including deep intronic)	~85% of known variants (hotspot regions only)
Turnaround Time	3 to 4 weeks	4–6 weeks
Genetic Counselling	Pre- and post-test teleconsultation included	Not included
Price (AED)	2,800	3,500

Physician Insight & Safety Protocols

“A pathogenic variant in the BLM gene reveals a molecular predisposition, not a guaranteed diagnosis. The result must always be interpreted in the context of the individual’s complete clinical presentation, family history, and additional genomic findings. I strongly recommend that every patient discuss their results with a board-certified genetic counsellor before making any medical or lifestyle decisions. Early identification opens the door to targeted cancer surveillance strategies that can significantly improve long-term outcomes.”

— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403

Advisory & Medication Caution

Do not discontinue any prescribed medications, initiate new treatments, or alter existing therapeutic plans solely based on the results of this genetic test. All clinical decisions must be made in consultation with your treating physician or specialist. Genetic testing provides risk information, not treatment directives.

Exclusion Criteria & Emergency Red Flags

Home collection is not suitable if:

Under 18 years without verified parental or legal guardian consent
Known bleeding disorder or severe anaemia (Hb < 8 g/dL)
Acute febrile illness (temperature > 38.5°C) or active systemic infection
Inability to provide informed consent or comply with post-procedure care

Seek immediate emergency care if you experience:

Profuse bleeding or haematoma expansion at the venipuncture site
Severe dizziness, syncope, or vasovagal collapse after blood draw
Signs of local infection (increasing redness, purulent discharge, warmth)
Difficulty breathing, urticaria, or anaphylactic reaction

All home collections are performed by DHA-licensed phlebotomists following ISO 9001:2015 cold-chain protocols. Sample collection for this test is standard peripheral venipuncture; no invasive procedures are required.

Patient FAQ & Clinical Guidance

1. What does a positive BLM gene mutation result mean for my health?

A positive result indicates that you carry two pathogenic BLM variants (homozygous or compound heterozygous), confirming a diagnosis of Bloom syndrome. This diagnosis implies a significantly elevated lifetime risk for multiple cancer types, particularly leukaemia, lymphoma, and solid tumours of the breast, colon, and skin. The finding enables your healthcare team to implement personalized cancer surveillance protocols, including earlier and more frequent screenings. It also provides critical information for family cascade testing and reproductive counselling.

2. How accurate is the NGS test used for BLM gene analysis?

Our NGS-based BLM gene test delivers >99.9% analytical sensitivity and specificity for single nucleotide variants and small insertions/deletions across the gene. The assay covers all coding exons, splice-site junctions, and selected deep intronic regions, achieving a clinical detection rate exceeding 99% for known pathogenic variants. Validation is performed against ClinVar, HGMD, and gnomAD reference databases. All variants classified as pathogenic or likely pathogenic are confirmed via orthogonal Sanger sequencing prior to reporting.

3. Can this test be used for prenatal diagnosis or carrier screening?

Yes, this test can be performed on amniotic fluid or chorionic villus samples for prenatal diagnostic purposes, provided appropriate pre-test genetic counselling has been conducted. For carrier screening in asymptomatic individuals, the test can detect heterozygous BLM carriers with high accuracy. All prenatal applications require referral to a DHA-certified fetal medicine specialist and should be discussed within the context of local regulatory frameworks. Please contact our genetics team for coordination with your managing specialist.

4. What is the expected turnaround time for results?

The standard turnaround time for the BLM gene NGS test is 3 to 4 weeks from the date the sample is received in our laboratory. This includes DNA extraction, library preparation, sequencing, bioinformatics analysis, variant interpretation, and clinical report generation. Urgent requests may be accommodated on a case-by-case basis with a premium service charge.

5. What sample type is required, and how is it collected?

The preferred sample type is peripheral whole blood (3–5 mL collected in an EDTA tube). Collection is performed via standard venipuncture by our DHA-licensed phlebotomists. Samples are transported under temperature-controlled cold-chain conditions (2–8°C) to maintain DNA integrity. VIP mobile phlebotomy and home collection services are available daily from 8 AM to 11 PM across Dubai and select GCC locations.

UAE Regulatory & Data Privacy Adherence

Legal & Privacy Compliance Framework

Data Protection: All personal and genetic data is processed 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. Genetic information is classified as sensitive health data and is encrypted, access-controlled, and retained only for the duration necessary for clinical and legal purposes.
Clinical Safety & Patient Consent: All test procedures, sample collection, and result disclosure adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Informed consent is obtained from every patient prior to sample collection, including specific consent for genetic testing and data processing.
Accreditation: Our laboratory is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139) and operates under a DHA Facility License (License No.: 1143). All clinical data processing complies with DHA standards for genetic testing and reporting.
Data Retention: Genetic test results and associated clinical data are stored securely for a minimum of 10 years in accordance with UAE health data retention regulations. Patients may request access to their data or exercise their right to erasure under applicable law.

Clinical & Logistical Metadata

Test Name	BLM Gene (Bloom Syndrome) Genetic Test – Next-Generation Sequencing (NGS)
Price (AED)	2,800 AED
Turnaround Time	3 to 4 weeks (21–28 calendar days)
Sample Type / Matrix	Peripheral whole blood (EDTA tube, 3–5 mL)
Methodology Used	Targeted Next-Generation Sequencing (NGS) – full gene coding regions, splice sites, selected deep intronic regions; Sanger confirmation for reported variants
ICD-10-CM Code	Q82.8 (Other specified congenital malformations of skin – Bloom syndrome)
LOINC Code	103225-9 (BLM gene mutation analysis in blood)
DHA Facility License & Lab Address	DHA License No.: 1143 \| Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE \| Corporate Lab: DNA Labs UAE