- Kuchar et al. (2009), Am; J Med Genet Part A, 149A:613-621.
- OMIM #176801: PSAP gene
- OMIM #611721: Combined saposin deficiency
- OMIM #611722: Atypical Krabbe due to saposin A deficiency
- OMIM #249900: Metachromatic leukodystrophy due to saposin B deficiency
- OMIM #610539: Atypical Gaucher disease due to saposin C deficiency
This test is indicated for:
- Confirmation of a clinical/biochemical diagnosis of PSAP-related disorders
- Carrier testing in adults with a family history of PSAP-related disorders
Clinical Sensitivity: Unknown. Mutations in the promoter region, some mutations in the introns and other regulatory element mutations cannot be detected by this analysis. Large deletions will not be detected by this analysis. Results of molecular analysis should be interpreted in the context of the patient's clinical and/or biochemical phenotype.
Analytical Sensitivity: ~99%
Infants and Young Children (<2 years of age): 2-3 ml
Children > 2 years of age to 10 years old: 3-5 ml
Older Children & Adults: 5-10 ml
Autopsy: 2-3 ml unclotted cord or cardiac blood
Isolation using the Perkin Elmer™Chemagen™ Chemagen™ Automated Extraction method or Qiagen™ Puregene kit for DNA extraction is recommended.
Orangene™ Saliva Collection Kit used according to manufacturer instructions. Please contact EGL for a Saliva Collection Kit for patients that cannot provide a blood sample.
- Krabbe Disease: Full Gene Sequencing & Deletion/Duplication
- Krabbe Disease: Galactocerebrosidase Activity, Dried Blood Spot
- Gaucher Disease: Biomarker Panel (ACE, CHITO, TRAP)
- Gaucher Disease: GBA Full Gene Sequencing & Common Mutation Panel
- Gaucher Disease: Angiotensin Converting Enzyme (ACE)
- Gaucher Disease: Chitotriosidase (CHITO)
- Gaucher Disease: Tartrate Resistant Acid Phosphatase (TRAP)
- Gaucher Disease: Enzyme Assay
- Metachromatic Leukodystrophy: Full Gene Sequencing & Deletion/Duplication
- Metachromatic Leukodystrophy
- Custom diagnostic mutation analysis (KM) is available to family members if mutations are identified by targeted mutation testing or sequencing analysis.
- Prenatal testing is available to adult couples who are confirmed carriers of mutations. Please contact the laboratory genetic counselor to discuss appropriate testing prior to collecting a prenatal specimen.