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Test Price

2,800 AED

✅ Home Collection Available

FAM111A Gene Test for Kenny‑Caffey Syndrome Type 2 (NGS) in UAE | 2800 AED | DHA Licensed

Executive Summary & Core Metrics

Accuracy Guarantee

99.9% Diagnostic Sensitivity via ISO‑Accredited NGS Processing

Premium Logistics

VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection

Available daily from 8 AM to 11 PM

Clinical Guidance

Telephonic Post‑Test Clinical Result Interpretation by Genetic Counsellor

Pre‑test genetic counselling included per DHA mandate

Insurance & Support

Direct Billing Verification via WhatsApp

+971 54 548 8731

Test Overview & Methodology

This next‑generation sequencing (NGS) test fully screens the FAM111A gene for pathogenic variants causative of Kenny‑Caffey syndrome type 2, a rare autosomal recessive disorder marked by short stature, hypoparathyroidism, seizures, and bone abnormalities. It supports clinical diagnosis, carrier detection, and family planning with 99.9% analytical accuracy.

Feature DNA Labs UAE Standard Sanger Sequencing
Methodology NGS (Full gene sequencing & copy‑number analysis) Sanger sequencing (single variant only)
Detection Rate >99% for all coding variants ~90% for targeted point mutations
Turnaround Time 3‑4 Weeks 4‑6 Weeks
Sample Accepted Whole Blood / FTA Card / Extracted DNA Whole Blood only

Physician Insight & Safety Protocols

Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403) notes: “Kenny‑Caffey syndrome type 2 often mimics endocrine or seizure disorders; definitive diagnosis requires FAM111A sequencing. Test results must be interpreted alongside clinical and biochemical findings to guide calcium and vitamin D management. Pre‑test genetic counselling is essential to discuss inheritance patterns and reproductive implications.”

Medication & Safety Advisory

Do not discontinue prescribed medication (e.g., calcium, anticonvulsants) prior to this blood test without your doctor’s explicit approval.

Exclusion Criteria & Emergency Red Flags

Do NOT proceed if:

  • You are currently experiencing a seizure or acute illness requiring emergency care.
  • You have a bleeding disorder or are on high‑dose anticoagulants without medical clearance.
  • Informed consent has not been signed by the patient or legal guardian (mandatory per DHA guidelines for minors).

ER Red Flags – Seek immediate medical attention if:

  • Uncontrolled seizures, prolonged spasms, or loss of consciousness.
  • Severe hypocalcaemia symptoms: tetany, stridor, or cardiac arrhythmia.

Patient FAQ & Clinical Guidance

1. What exactly does the FAM111A genetic test diagnose, and how accurate is it?

This NGS test provides a definitive molecular diagnosis of Kenny‑Caffey syndrome type 2 by detecting pathogenic variants in the FAM111A gene with greater than 99% analytical sensitivity and specificity. Results must be correlated with clinical and biochemical findings for comprehensive patient management.

2. Is genetic counselling required, and how does it work in the UAE?

A pre‑test genetic counselling session is a mandatory DHA‑aligned step to draw a detailed family pedigree and explain inheritance risks and result implications. Our consultant medical geneticist conducts the session and provides post‑test interpretation to guide clinical decisions.

3. Can I use a dried blood spot (FTA card) for this test, and how does cold‑chain logistics work?

Yes, a single drop of blood on an FTA card is an accepted sample type alongside whole blood and extracted DNA. Our ISO‑certified temperature‑controlled cold‑chain collection ensures DNA integrity from your home to the laboratory, with VIP phlebotomy available daily from 8 AM to 11 PM.

UAE Regulatory & Data Privacy Adherence

DNA Labs UAE operates under DHA Facility License Number 1143 and strictly complies 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. Clinical safety and informed consent procedures follow Federal Decree‑Law No. 4 of 2016 on Medical Liability. All genetic data is encrypted, access‑controlled, and processed solely for diagnostic purposes with explicit patient consent.

Clinical & Logistical Metadata

Test Name FAM111A Gene Sequencing (NGS) for Kenny‑Caffey Syndrome Type 2
Price (AED) 2,800 AED
Turnaround Time 3–4 Weeks
Sample Type / Matrix Whole Blood, FTA Card, or Extracted DNA
Methodology Used Next‑Generation Sequencing (NGS) with Copy‑Number Variant Analysis
ICD‑10‑CM Code Q87.1
LOINC Code 81304-3
DHA Facility License & Address License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE

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