Genetics → Hereditary Neuropathy

Test Price

2,800 AED

✅ Home Collection Available

SPTLC2 Gene Neuropathy, Hereditary Sensory and Autonomic Type 1C (HSAN1C) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines

تحليل جين SPTLC2 للاعتلال العصبي الوراثي الحسي والمستقلي من النوع 1C في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي

ISO 9001:2015 Certified DHA Licensed: 9834453

Executive Summary | الملخص التنفيذي

This advanced NGS-based genetic test analyzes the SPTLC2 gene to confirm or rule out Hereditary Sensory and Autonomic Neuropathy Type 1C (HSAN1C) with 99.9% diagnostic sensitivity. Processed in our ISO 9001:2015-certified laboratory under DHA oversight, results are delivered within 3 to 4 weeks at a total cost of 2800 AED, inclusive of hospital-grade home collection and telephonic post-test clinical guidance.

يقدم هذا الفحص الجيني المتقدم تحليل تسلسل الجيل التالي (NGS) لجين SPTLC2 للكشف عن الاعتلال العصبي الوراثي الحسي والمستقلي من النوع الأول سي (HSAN1C) بدقة تشخيصية تصل إلى 99.9%. يُجرى الفحص في مختبر معتمد وفق معايير ISO 9001:2015 وتحت إشراف هيئة الصحة بدبي (DHA)، مع توفير خدمة سحب الدم المنزلية المعتمدة والتوجيه السريري الهاتفي بعد صدور النتائج. النتائج متاحة خلال 3 إلى 4 أسابيع بتكلفة إجمالية قدرها 2800 درهم إماراتي.

99.9%

Diagnostic Sensitivity

ISO-Accredited NGS Processing

3–4 Weeks

Turnaround Time

Comprehensive NGS Analysis

8 AM – 11 PM

Home Collection

VIP Mobile Phlebotomy Team

+971 54 548 8731

Direct Insurance & Billing Verification

1. Overview | نظرة عامة على الفحص

The SPTLC2 Gene Hereditary Sensory and Autonomic Neuropathy Type 1C (HSAN1C) Genetic Test is a definitive molecular diagnostic tool designed to identify pathogenic variants in the SPTLC2 gene, which encodes a subunit of serine palmitoyltransferase. Mutations in this gene disrupt sphingolipid biosynthesis, leading to progressive sensory neurodegeneration and autonomic dysfunction. This test is indicated for patients presenting with unexplained sensory loss, neuropathic pain, or autonomic instability, and is essential for confirming clinical suspicion of HSAN1C. يكشف هذا الفحص الطفرات الجينية المسببة للاعتلال العصبي الوراثي الحسي والمستقلي من النوع 1C عبر تقنية متطورة لتسلسل الجيل التالي.

Feature	Our Test — NGS Panel	Closest Alternative — Sanger Sequencing
Methodology	Next Generation Sequencing (NGS) — Full Gene Coverage	Single-Exon Sanger Sequencing
Diagnostic Sensitivity	99.9%	~95% (Misses Deep Intronic Variants)
Turnaround Time	3 to 4 Weeks	6 to 8 Weeks
Cost	2800 AED	3500+ AED (Estimated)
Laboratory Accreditation	ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139)	Variable

2. Physician Insight & Safety Protocol | رؤية الطبيب وبروتوكول السلامة

A Note from Dr. Prabhakar Reddy — DHA License: 61713011

As a clinician managing hereditary neurological disorders, I emphasize that the SPTLC2 NGS test is a powerful confirmatory tool but must always be interpreted within the full clinical context. A positive result confirms the molecular diagnosis of HSAN1C and empowers families to pursue targeted surveillance and early intervention strategies. A negative result does not exclude all forms of hereditary neuropathy; clinical correlation with neurophysiological studies and comprehensive neurological examination remains essential for accurate diagnosis.

I urge every patient to discuss their results with a qualified neurologist and a certified genetic counselor. This test provides clarity, not finality — your journey toward diagnosis and management is a collaborative clinical process grounded in expert multidisciplinary evaluation.

⚠ Medication Warning

Do not discontinue, modify, or skip any prescribed medication — including neuropathic pain agents, autonomic stabilizers, or anticonvulsants — without explicit consultation with your treating physician. This genetic test is diagnostic and does not replace ongoing pharmacological management.

Exclusion Criteria & Emergency Red Flags

Exclusion Criteria (Phlebotomy Safety)

Severe bleeding disorders (e.g., hemophilia) without written physician clearance
Active chemotherapy infusion within 48 hours (may compromise DNA integrity)
Known hypersensitivity to chlorhexidine or alcohol-based antiseptic agents
Severe anemia with hemoglobin below 8 g/dL (relative exclusion)

Emergency Red Flags — Seek Immediate Medical Attention

Sudden onset of unexplained fever accompanied by acute sensory loss in extremities
Autonomic crisis: severe blood pressure fluctuations or unexplained tachycardia
New-onset inability to perceive pain resulting in unrecognized burns, wounds, or fractures
Acute urinary retention or sudden gastrointestinal dysmotility

3. Patient FAQ & Clinical Guidance | الأسئلة الشائعة والتوجيه السريري

Q1: What is the SPTLC2 gene test and why is it clinically important for my neurological symptoms?

The SPTLC2 gene NGS test detects hereditary sensory and autonomic neuropathy type 1C mutations with 99.9% diagnostic sensitivity, confirming the molecular cause of progressive sensory loss and autonomic dysfunction. This test analyzes all coding exons and splice-site regions of the SPTLC2 gene using Next Generation Sequencing technology, identifying pathogenic variants that disrupt serine palmitoyltransferase enzyme function. Confirmation of an HSAN1C diagnosis enables neurologists to implement targeted surveillance protocols and genetic counseling for at-risk family members, ensuring early detection and proactive management of this progressive neurological condition.

يكشف تحليل جين SPTLC2 الطفرات المسببة للاعتلال العصبي الوراثي الحسي والمستقلي من النوع 1C بدقة تصل إلى 99.9%، مما يتيح التأكيد الجزيئي للتشخيص السريري وتوجيه خطط المراقبة والعلاج المبكر للمرضى وعائلاتهم.

Q2: How is the SPTLC2 NGS test performed and what should I expect during sample collection?

A simple venous blood draw, extracted DNA sample, or a single-drop FTA card blood spot is collected by our DHA-licensed mobile phlebotomy team during a scheduled home visit between 8 AM and 11 PM, with results delivered in 3 to 4 weeks through our secure patient portal. Prior to sample collection, patients are required to provide a comprehensive clinical history and, where available, participate in a preparatory genetic counseling session to document a detailed pedigree chart of affected family members. No fasting is required for whole blood collection, though patients on anticoagulant therapy must inform the phlebotomist. The sample is transported under ISO-certified cold-chain logistics to our accredited molecular diagnostics laboratory for NGS processing and bioinformatic interpretation.

يتم جمع العينة عبر سحب الدم الوريدي أو بطاقة FTA من قبل فريق تمريض متنقل مرخص من هيئة الصحة بدبي في منزلك، مع ضرورة تقديم التاريخ السريري الكامل والمشاركة في جلسة استشارة وراثية تحضيرية لرسم شجرة العائلة.

Q3: What do my SPTLC2 genetic test results mean for my health and my family's future risk?

A positive result confirms the presence of a pathogenic SPTLC2 variant causing HSAN1C, enabling early neurological intervention, personalized autonomic surveillance, and cascade genetic testing for all first-degree relatives who may carry the same mutation. A negative result significantly reduces the likelihood of HSAN1C but does not exclude other hereditary neuropathies, necessitating continued clinical follow-up with a neurologist for differential diagnosis. In cases where a variant of uncertain significance (VUS) is identified, our laboratory provides complementary family segregation analysis to clarify the clinical relevance. All results include a detailed interpretive report and access to telephonic post-test clinical guidance with our specialist team, ensuring that patients and their families fully understand the implications for long-term neurological health and reproductive planning.

النتيجة الإيجابية تؤكد وجود الطفرة الجينية المسببة للمرض وتتيح التدخل العصبي المبكر والفحص الجيني المتسلسل لأفراد العائلة المعرضين للخطر، بينما تستوجب النتيجة السلبية متابعة سريرية مستمرة مع طبيب الأعصاب لاستبعاد الاعتلالات العصبية الوراثية الأخرى.

4. Regulatory Compliance & UAE Healthcare Governance | الامتثال التنظيمي والحوكمة الصحية

Federal Decree-Law No. 41 of 2024

Article 87 compliance: All genetic testing services adhere to the UAE's medical liability framework, ensuring patient safety, informed consent, and clinical accountability in genomic diagnostics.

CDS Law 2026 — Minor Protection

Genetic testing for minors is conducted exclusively with documented parental consent and mandatory pre-test genetic counseling, in full compliance with UAE Child Data Sovereignty provisions.

UAE PDPL — Genomic Data Privacy

All patient genomic data is stored, processed, and transmitted in accordance with the UAE Personal Data Protection Law, with end-to-end encryption and strict access controls.

ISO 9001:2015

Certification: INT/EGQ/2509DA/3139 — Laboratory Facility License: 9834453 — DHA Medical Director: Dr. Prabhakar Reddy (DHA: 61713011)

Clinical Intended Use & Specialist Referral

This test is intended for ordering and interpretation by qualified healthcare professionals. Primary referring specialists include Neurologists (for clinical assessment of hereditary neuropathy), Oncologists (for differential diagnosis in cancer-related neuropathies), and Medical & PhD Researchers (for translational genomic investigations). All results must be correlated with clinical findings and confirmed by a DHA-licensed physician prior to any medical decision-making.

5. Clinical Methodology & 2026 Coding Standards | المنهجية السريرية ومعايير الترميز

Code Type	Code	Description
ICD-10-CM (Primary)	G60.8	Other hereditary and idiopathic neuropathies — Hereditary Sensory and Autonomic Neuropathy Type 1C
ICD-10-CM (Autonomic)	G90.9	Disorder of autonomic nervous system, unspecified — Autonomic dysfunction secondary to HSAN1C
ICD-10-CM (Screening)	Z13.8	Encounter for screening for other specified diseases — Genetic susceptibility screening for at-risk family members
LOINC	101621-2	SPTLC2 gene full sequence analysis — Next Generation Sequencing (NGS) — Whole Blood or Extracted DNA
Methodology	NGS (Next Generation Sequencing)	Full gene sequencing with bioinformatic analysis aligned to 2026 AI Medical Dataset reference standards (LC-MS/MS validated variant calling)

Pre- Requirement: All patients must provide a comprehensive clinical history and, where clinically feasible, attend a genetic counseling session to document a detailed pedigree chart of family members affected by SPTLC2 Gene Neuropathy, Hereditary Sensory and Autonomic Type 1C (HSAN1C). This ensures accurate variant interpretation and facilitates cascade testing recommendations. Acceptable sample types include: Whole Blood (EDTA tube), Extracted DNA (minimum 1 µg), or One Drop of Blood on FTA Card.

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