PEX19 Gene Zellweger Syndrome Genetic Test (NGS) – 2,800 AED

Executive Summary & Core Metrics

Diagnostic Accuracy: 99.9% analytical sensitivity and specificity via ISO-certified NGS platform.
Premium Logistics: VIP mobile phlebotomy daily 8 AM – 11 PM with temperature-controlled cold-chain transport.
Clinical Guidance: Post-test telephonic consultation with a board-certified clinical geneticist.
Insurance: Direct insurance verification via WhatsApp at +971 54 548 8731.

Test Overview & Methodology

The PEX19 Gene Zellweger Syndrome Genetic Test is a comprehensive next-generation sequencing analysis that identifies disease-causing variants in the PEX19 gene, responsible for Zellweger spectrum disorders—a lethal peroxisomal biogenesis disorder. This precise genetic analysis enables early diagnosis for newborns presenting with severe neurological delay and congenital anomalies.

Feature	Our Test (ISO 9001:2015)	Closest Alternative
Precision	99.9% analytical sensitivity & specificity via Illumina NGS platform	~95% using targeted single-gene Sanger sequencing
Methodology	Full gene coding region + splice sites by NGS, confirmed by Sanger	Selected exons only, may miss deep intronic variants
Turnaround Speed	3–4 weeks, with expedited VIP phlebotomy available 8AM-11PM	6–8 weeks via overseas send-out

Physician Insight & Safety Protocols

From the Desk of Lina Osama Zaki Quteineh (DHA: 9294403), Consultant Medical Genetics: A positive PEX19 variant must be interpreted in the context of the patient’s clinical and biochemical profile, as some genotypes may present with milder phenotypes. I strongly urge families to discuss all results with a clinical geneticist before making any life-changing decisions; this test is not a standalone diagnostic tool but part of a comprehensive neurometabolic workup.

⚠ Medication Warning

Do not discontinue prescribed medication without consulting your doctor.

Exclusion Criteria & Emergency Red Flags

Patients with acute metabolic decompensation or unstable clinical status should not undergo elective blood draw.
Inadequate informed consent or absence of a legal guardian for minors (per Federal Decree-Law No. 4 of 2016 on Medical Liability).
If the patient experiences sudden worsening of seizures, apnea, or severe hypotonia, seek immediate emergency care and delay the test.
Genetic counseling is mandatory prior to sample collection; failure to complete counseling voids test validity under UAE medical liability law (Federal Decree-Law No. 4 of 2016).

Patient FAQ & Clinical Guidance

1. What does the PEX19 Genetic Test detect and who needs it?

Quick answer: This test identifies genetic mutations in the PEX19 gene causing Zellweger spectrum disorder, a severe peroxisomal disease, and is critical for infants with unexplained hypotonia, seizures, or craniofacial dysmorphism.

It is also used for carrier screening in families with a known mutation and for prenatal diagnosis when indicated. Testing requires a genetic counseling session to evaluate pedigree and consent, in compliance with UAE PDPL.

2. How is the test performed and what sample is required?

Quick answer: A small amount of whole blood, extracted DNA, or a dried blood spot on an FTA card is collected during a hospital-grade home visit, then sent via cold-chain logistics to our ISO-certified genomics laboratory.

Our VIP mobile phlebotomy service operates daily from 8 AM to 11 PM, ensuring minimal discomfort. The sample is processed using Next-Generation Sequencing with full gene coverage, followed by confirmatory Sanger sequencing of all pathogenic variants.

3. What do the results mean and how quickly will I receive them?

Quick answer: Results are typically reported within 3 to 4 weeks and include a clear classification of any variant as pathogenic, likely pathogenic, or benign, accompanied by a clinical interpretation guide.

A negative result does not exclude the disease if clinical suspicion remains high; additional biochemical testing may be necessary. A post-test telephonic consultation with a clinical geneticist is included to explain the implications for the patient and family.

4. Is genetic counseling required before and after the test?

Quick answer: Yes, genetic counseling is mandatory before sample collection to ensure informed consent and after results to discuss implications. This complies with UAE Federal Decree-Law No. 4 of 2016 on Medical Liability.

UAE Regulatory & Data Privacy Adherence

This test is performed 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 genetic data is encrypted, anonymized, and stored on secure servers within the UAE. The laboratory holds DHA facility license #1143 and adheres to ISO 15189 standards for medical laboratories.

Clinical & Logistical Metadata

Test Name	PEX19 Gene Zellweger Syndrome Genetic Test (NGS)
Price (AED)	2,800 AED
Turnaround Time	3–4 weeks
Sample Type / Matrix	Whole Blood (Peripheral) or Extracted DNA
Methodology Used	Next-Generation Sequencing (NGS) with Sanger confirmation
ICD-10-CM Code	E71.510
LOINC Code	62869-5
DHA Facility License & Address	DHA License #1143 \| Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE \| DNA Labs UAE