Test Price
2,800 AEDโ Home Collection Available
CHSY1 Gene Temtamy Preaxial Brachydactyly Syndrome Genetic Test in UAE | 2800 AED | DHA Licensed Laboratory
Executive Summary & Core Metrics
- Test Name: CHSY1 Gene Full Sequencing โ Temtamy Preaxial Brachydactyly Syndrome
- Price: 2,800 AED (all-inclusive, no hidden fees)
- Turnaround Time: 3โ4 Weeks from sample receipt
- Methodology: Next-Generation Sequencing (NGS) covering entire coding region and splice sites
- Sample Type: Peripheral whole blood, extracted DNA, or FTA card
- Accuracy: >99.9% diagnostic sensitivity for point mutations, indels, and CNVs
- Clinical Utility: Confirmatory diagnosis of Temtamy preaxial brachydactyly syndrome (TPBS), enabling precise medical management, recurrence risk counselling, and familial cascade testing
- Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8 AM โ 11 PM)
- Post-Test Support: Telephonic clinical guidance by a Consultant Medical Geneticist
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731
- Certification: ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139)
- DHA License: Facility License No. 1143
- Laboratory Address: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE
Test Overview & Methodology
This molecular diagnostic test utilizes Next-Generation Sequencing (NGS) to analyze the entire coding region and flanking splice sites of the CHSY1 gene, providing definitive genetic confirmation of Temtamy preaxial brachydactyly syndrome (TPBS). TPBS is a rare autosomal recessive skeletal dysplasia characterized by preaxial brachydactyly, short stature, intellectual disability, and distinctive facial features. Early molecular diagnosis enables targeted interventions, accurate recurrence risk counselling (25% sibling risk), and informed family planning. All variant interpretation follows current ACMG/AMP guidelines.
| Feature | DNA Labs UAE โ CHSY1 NGS | Alternative Approach |
|---|---|---|
| Methodology | NGS full gene sequencing + MLPA backup for copy number variants | Sanger sequencing (single-exon, limited coverage) |
| Detection Rate | >99.9% for SNVs, indels, and CNVs | ~85% for SNVs only; misses CNVs |
| Turnaround Time | 3โ4 Weeks (expedited processing) | 6โ8 Weeks |
| Sample Flexibility | Blood, extracted DNA, or FTA card | Whole blood only |
Physician Insight & Safety Protocols
โThis CHSY1 gene sequencing test should be requested when clinical findings suggest Temtamy preaxial brachydactyly syndrome โ particularly preaxial brachydactyly, proportionate short stature, and facial dysmorphism such as hypertelorism and downslanting palpebral fissures. Comprehensive family history and pre-test genetic counselling are essential to correctly interpret variant pathogenicity. A negative result does not exclude all genetic aetiologies; clinical correlation remains paramount.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
โ Pre-Test Advisory
Do not discontinue any prescribed medication without consulting your treating physician. Certain therapies such as corticosteroids or growth hormone may influence phenotypic expression but do not alter the genetic test result.
Consent requirements: Written informed consent must be obtained prior to sample collection, in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability. The consent process should include discussion of possible incidental findings, variant reclassification risks, and data storage policies.
Exclusion Criteria & ER Red Flags
- Active febrile illness or systemic infection may delay specimen collection; notify the phlebotomist to reschedule.
- If the patient has received a blood transfusion or allogeneic stem cell transplant within the last 30 days, a buccal swab sample is recommended instead of blood.
- ER Red Flag: Severe respiratory distress, uncontrolled seizures, or acute skeletal pain requires immediate emergency attention; the genetic test appointment should be postponed.
Patient FAQ & Clinical Guidance
1. What does a positive CHSY1 result mean for my childโs health?
A positive result confirms the genetic cause of Temtamy preaxial brachydactyly syndrome, enabling precise medical management, surveillance for associated complications, and recurrence risk assessment (25% for siblings). Your consultant will discuss a tailored care plan during the post-test counselling session.
2. Is prenatal or preimplantation testing available for this condition?
Yes, if the familial pathogenic variants are already identified. Prenatal diagnosis via chorionic villus sampling (CVS) or amniocentesis, as well as preimplantation genetic testing (PGT), can be arranged through your genetic counsellor and obstetric specialist.
3. How quickly will I receive results and what support is offered after?
Results are typically released within 3 to 4 weeks from sample receipt. A Consultant Medical Geneticist will provide a telephonic interpretation of the findings, explain clinical implications, and guide you on next steps including specialist referrals if needed.
4. Can other family members benefit from this test?
Yes, cascade testing for at-risk siblings (25% recurrence risk) and carrier testing for parents and extended family members is recommended. Genetic counselling is provided to all families undergoing testing.
UAE Regulatory & Data Privacy Adherence
Data Protection & Legal Compliance
This laboratory service operates 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. All patient data are processed and stored exclusively within UAE sovereign servers, with access restricted to authorized clinical personnel. Sample collection and consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Our facility holds DHA License No. 1143 and ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139). For appointments or insurance verification, contact +971 54 548 8731 (WhatsApp) or call +971545488731.
Clinical & Logistical Metadata
| Test Name | CHSY1 Gene Sequencing โ Temtamy Preaxial Brachydactyly Syndrome |
| Price (AED) | 2,800 AED (all-inclusive) |
| Turnaround Time | 3โ4 Weeks from sample receipt |
| Sample Type / Matrix | Peripheral whole blood, extracted DNA, or FTA card โ VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM โ 11 PM |
| Methodology Used | Next-Generation Sequencing (NGS) with full coding region and splice site coverage; MLPA for CNV detection |
| ICD-10-CM Code | Q87.2 |
| LOINC Code | 94086-3 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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