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Test Price

2,800 AED

✅ Home Collection Available

BCAT1 Gene Branched-Chain Aminotransferase 1 Deficiency Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines

تحليل جين BCAT1 لنقص أمينوترانسفيراز الأحماض متفرعة السلسلة 1 في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي

Accuracy Guarantee

99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).

Premium Logistics

Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy.

Clinical Guidance

Telephonic Post-Test Clinical Guidance in result interpretation by experienced specialists.

Insurance

Direct Billing Verification via WhatsApp +971 54 548 8731.

ضمان الدقة: 99.9% حساسية تشخيصية من خلال معالجة معتمدة وفق ISO 9001:2015.

خدمة السحب المنزلي المتميزة مع سلسلة تبريد معتمدة ونقل سريع. استشارة سريرية هاتفية بعد النتيجة. تحقق من التغطية التأمينية عبر واتساب: +971 54 548 8731.

Test Overview & Clinical Value

The BCAT1 Genetic Test performs comprehensive sequencing of the BCAT1 gene to identify pathogenic variants responsible for Branched-Chain Aminotransferase 1 Deficiency, an inherited metabolic disorder affecting branched-chain amino acid catabolism. This high-coverage Next-Generation Sequencing assay delivers definitive molecular confirmation for hypervalinemia, developmental delay, and neurological deterioration, enabling targeted dietary and medical management under UAE specialist care.

Parameter Our NGS Test Sanger Sequencing Alternative
Methodology Next-Generation Sequencing (Illumina NovaSeq X Plus) Capillary Sanger Sequencing
Coverage Full coding regions + splice sites (>99% @≥20x) Single exon-level, limited to known hotspots
Turnaround Time 3 to 4 Weeks 4 to 6 Weeks
Diagnostic Sensitivity 99.9% ~95% (for point mutations only)
Cost 2800 AED Often higher (~3500 AED)

Clinical Expert Note & Safety Protocol

“As a clinical geneticist, I recognize that pursuing genetic testing for an inherited metabolic condition can be stressful. A BCAT1 deficiency diagnosis must always be interpreted alongside plasma amino acid profiles and clinical phenotype; no single test replaces thorough clinical evaluation. I strongly recommend pre- and post-test genetic counselling to fully understand the implications for your health and family planning.”

— Dr. Prabhakar Reddy, DHA License: 61713011

Do not discontinue prescribed medication without consulting your doctor.

Exclusion Criteria & Emergency Red Flags

  • Acute febrile illness or unstable clinical condition; postpone testing until recovery.
  • Minors (<18 years) require explicit parental/legal guardian consent per UAE CDS Law 2026.
  • Inability to provide informed consent for genetic analysis.
  • ER Red Flags: Sudden onset of seizures, intractable vomiting, lethargy, ataxia, or suspected metabolic crisis – seek immediate emergency care, do not wait for test results.

UAE Regulatory Adherence

This service is fully compliant with Federal Decree-Law No. 41 of 2024 (Art. 87), UAE PDPL (Personal Data Protection), and CDS Law 2026 regarding minors. Testing is performed under DHA facility license 9834453 and ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139).

Frequently Asked Questions (FAQ) & Clinical Guidance

What is the BCAT1 Genetic Test and what does it diagnose?

This NGS test sequences the entire BCAT1 gene to detect mutations causing Branched-Chain Aminotransferase 1 Deficiency, an inherited metabolic disorder affecting branched-chain amino acid breakdown, leading to hypervalinemia, developmental delay, and neurological symptoms.

يقوم هذا الاختبار بتسلسل كامل جين BCAT1 باستخدام تقنية تسلسل الجيل التالي (NGS) للكشف عن الطفرات المسببة لنقص أمينوترانسفيراز الأحماض متفرعة السلسلة 1، وهو اضطراب استقلابي وراثي يؤدي إلى ارتفاع مستويات الفالين في الدم وتأخر النمو والأعراض العصبية.

How is the test performed and what is the turnaround time?

A simple blood draw, buccal swab, or a drop of blood on an FTA card is collected via home phlebotomy service; extracted DNA is sequenced with a turnaround time of 3 to 4 weeks.

يتم جمع عينة دم بسيطة أو مسحة فموية أو قطرة دم على بطاقة FTA من خلال خدمة السحب المنزلي، ويتم تسلسل الحمض النووي المستخلص مع مدة إنجاز تتراوح بين 3 إلى 4 أسابيع.

How can I book the and what are the insurance coverage options?

Schedule your hospital-grade home collection by calling or messaging WhatsApp +971 54 548 8731; our team provides direct insurance billing verification for most UAE medical insurance plans.

يمكنك حجز موعد السحب المنزلي عبر الاتصال أو مراسلة واتساب على الرقم +971 54 548 8731؛ نوفر خدمة التحقق المباشر من التغطية التأمينية لمعظم خطط التأمين الطبي في الإمارات.

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Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.

توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.

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