Test Price
2,800 AED✅ Home Collection Available
PSAP Gene Sequencing for Atypical Krabbe Disease (NGS) in the UAE
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO-Certified NGS Sequencing.
Premium Logistics: Paid Hospital-Grade Home Collection, ISO Certified Cold-Chain Transport, VIP Mobile Phlebotomy.
Clinical Guidance: Telephonic Post-Test Clinical Guidance & Genetic Counseling Support.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Advanced genetic sequencing for detecting PSAP gene mutations associated with atypical Krabbe disease, delivering definitive molecular diagnosis when standard enzyme assays remain inconclusive.
Test Overview & Methodology
Molecular Basis of PSAP-Related Atypical Krabbe Disease
This next-generation sequencing (NGS) assay targets the PSAP gene on chromosome 10q22.1, encoding prosaposin — the precursor for saposins A, B, C, and D. Pathogenic variants in PSAP disrupt saposin C function, leading to galactosylceramide accumulation and progressive leukodystrophy clinically indistinguishable from classic Krabbe disease caused by GALC mutations. Our test covers all coding exons, splice junctions, and flanking intronic regions with a minimum read depth of 100x, ensuring comprehensive variant detection including missense, nonsense, frameshift, and splice-site alterations.
Clinical Utility & Diagnostic Context
The PSAP NGS test is indicated for patients presenting with progressive neurological deterioration, peripheral neuropathy, optic atrophy, or developmental regression where initial biochemical testing for GALC enzyme activity is normal or equivocal. Approximately 5–10% of Krabbe disease cases are attributable to PSAP mutations rather than GALC defects, making molecular sequencing essential for accurate diagnosis. Early identification enables timely hematopoietic stem cell transplantation and informed reproductive counseling.
Comparative Diagnostic Performance
| Parameter | PSAP NGS Test (Our Service) | GALC Enzyme Assay (Alternative) |
|---|---|---|
| Analytical Sensitivity | >99.9% for PSAP coding variants (SNVs, indels, splice-site) | ~85% for GALC deficiency; zero sensitivity for PSAP variants |
| Diagnostic Method | Whole gene sequencing with Sanger confirmation for all pathogenic/likely pathogenic calls | Fluorometric measurement of GALC enzyme activity in leukocytes or fibroblasts |
| Turnaround Time | 3–4 Weeks | 2 Weeks |
| Cost (AED) | 2,800 AED | ~1,500 AED |
| Clinical Indication Scope | Confirms/excludes PSAP-related Krabbe disease; identifies carriers | Detects GALC deficiency only; miss PSAP-related and rare GALC hypomorphic alleles |
Physician Insight & Safety Protocols
“From a clinical genetics standpoint, the distinction between classic and atypical Krabbe disease hinges on precise molecular characterization. A negative PSAP sequencing result does not rule out all leukodystrophies — we must still consider GALC sequencing, arylsulfatase A deficiency, and other mimics. The power of NGS lies in its ability to simultaneously interrogate multiple genes in a single assay, reducing diagnostic odyssey time for families. I strongly advise pre-test genetic counseling to establish informed consent and discuss potential secondary findings.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Pre-Test Advisory
Important Clinical Consideration
All prescribed medications, including enzyme replacement therapies and anti-seizure drugs, must be continued as directed by your managing neurologist. This genetic test does not replace regular clinical monitoring or metabolic assessments. Patients should maintain a seizure diary and report any changes in neurological status to their care team promptly.
Safety Exclusion Criteria & Red Flags
- Exclusion criteria: Inability to provide informed consent or absence of a legal guardian for minors; acute febrile illness (defer collection until afebrile for 48 hours); active hematologic malignancy that may compromise DNA yield; incomplete genetic counseling prior to specimen collection.
- Seek immediate emergency care if: New-onset seizures or status epilepticus; acute respiratory distress; sudden loss of motor or language milestones; signs of increased intracranial pressure, including persistent vomiting, bulging fontanelle in infants, or altered consciousness.
Patient FAQ & Clinical Guidance
1. What is the PSAP genetic test and when is it recommended?
The PSAP gene sequencing test identifies pathogenic mutations in the PSAP gene responsible for atypical Krabbe disease (saposin C deficiency). It is recommended when a patient presents with progressive leukodystrophy features — such as spasticity, ataxia, optic atrophy, or developmental regression — but has normal GALC enzyme activity on initial screening. This test is also offered for carrier testing in families with a known PSAP mutation and for prenatal diagnosis in at-risk pregnancies.
2. How accurate is this NGS test compared to standard enzyme assays?
Our assay achieves greater than 99.9% analytical sensitivity and specificity for single-nucleotide variants and small insertions/deletions within the PSAP coding region and splice junctions. Unlike GALC enzyme assays — which cannot detect PSAP mutations and yield false-negative results in atypical presentations — NGS directly identifies the underlying molecular defect. Confirmatory Sanger sequencing is performed for all called variants classified as pathogenic or likely pathogenic. The test may occasionally miss deep intronic or large structural rearrangements; if clinical suspicion remains high, complement with MLPA analysis.
3. What is the cost, turnaround time, and sample collection process?
The total cost is 2,800 AED inclusive of sequencing, bioinformatic analysis, and a comprehensive clinical report. Turnaround time is 3–4 weeks from specimen receipt. Sample type is 5–10 mL of whole blood collected in EDTA tubes (purple top) or an Oragene DNA saliva kit for patients unable to provide blood. VIP mobile phlebotomy is available daily from 8 AM to 11 PM across Dubai, Abu Dhabi, and the Northern Emirates. Home collection is conducted under temperature-controlled cold-chain conditions. Direct billing with major UAE insurers can be verified via WhatsApp at +971 54 548 8731.
4. Will this test detect all types of Krabbe disease?
No. This test specifically targets the PSAP gene and therefore detects only atypical Krabbe disease caused by prosaposin/saposin C deficiency. Classic Krabbe disease due to GALC mutations will not be identified by this test. If your clinical presentation strongly suggests Krabbe disease but both PSAP and GALC sequencing are negative, your physician may consider a broader leukodystrophy gene panel or whole-exome sequencing. Approximately 90–95% of Krabbe disease cases are GALC-related; the remaining 5–10% are associated with PSAP.
5. What should I expect from the genetic counseling session?
Pre-test genetic counseling is mandatory before blood collection. Our consultant medical geneticist will explain the purpose and limitations of the test, the possible results (positive, negative, or variant of uncertain significance), and implications for family members. You will discuss insurance coverage, data privacy, and the potential for secondary findings in other genes if whole-gene analysis is performed. Post-test counseling includes a detailed interpretation of the report, recurrence risk assessment, and referral to appropriate specialists (neurologist, metabolic physician, transplant coordinator).
UAE Regulatory & Data Privacy Adherence
Legal & Compliance Framework
DNA Labs UAE operates under DHA Facility License No. 1143 and complies fully with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for the secure collection, storage, and processing of genetic data. All electronic health records and raw sequencing files are encrypted at rest and in transit, with access strictly limited to authorized clinical personnel. No genetic information is shared with employers, insurers, or third parties without explicit written consent in accordance with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
Patient safety and clinical governance are upheld under Federal Decree-Law No. 4 of 2016 on Medical Liability, which mandates informed consent, accurate reporting, and accountability for diagnostic errors. Our laboratory maintains ISO 15189 accreditation for molecular genetics, participates in external quality assessment schemes, and undergoes annual DHA audit inspections. All sequencing data is retained for the period specified by UAE health data retention regulations and is securely disposed of thereafter.
Patients have the right to access their genetic report, request data portability, and lodge complaints with the UAE Data Office or DHA if privacy concerns arise.
Clinical & Logistical Metadata
| Test Name | PSAP Gene Sequencing for Atypical Krabbe Disease (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA, 5–10 mL) or Oragene DNA Saliva Kit |
| Methodology Used | Next-Generation Sequencing (Illumina platform) with Sanger Confirmation of all pathogenic/likely pathogenic variants; minimum 100x mean coverage across all coding exons and flanking intronic regions |
| ICD-10-CM Code | E75.23 (Krabbe disease), E75.29 (Other sphingolipidosis) |
| LOINC Code | 94886-8 (PSAP gene targeted mutation analysis) |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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