Sjogren-Larsson Syndrome via the ALDH3A2 Gene
Summary and Pricing 
Test Method
Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes| Test Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 7861 | ALDH3A2 | 81479 | 81479,81479 | $990 | Order Options and Pricing |
Pricing Comments
Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.
Turnaround Time
3 weeks on average for standard orders or 2 weeks on average for STAT orders.
Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.
Targeted Testing
For ordering sequencing of targeted known variants, go to our Targeted Variants page.
Clinical Features and Genetics
Clinical Features
Sjogren-Larsson syndrome (SLS) is an inherited metabolic disorder due to deficiency of fatty aldehyde dehydrogenase. Clinical features of SLS include ichthyosis, spastic diplegia or tetraplegia, seizures, mental retardation, macular dystrophy, and leukoencephalopathy. The ichthyosis in SLS is often congenital onset as the first symptom, and is pruritic and generalized in distribution. Neurologic symptoms commonly appear by the 2nd year of life and present with delay in reaching motor and cognitive milestones. SLS has variable clinical presentation and is usually non-progressive. Most patients live into adulthood (Rizzo 2007; Fuijkschot et al. 2012).
Genetics
Sjogren-Larsson syndrome is inherited in an autosomal recessive manner and caused by pathogenic variants in ALDH3A2. ALDH3A2 encodes a membrane-bound fatty aldehyde dehydrogenase that plays a critical detoxifying role in several lipid degrading pathways, especially in the skin and nervous system. Over 90 pathogenic variants reported were distributed throughout the gene, including missense, nonsense, splicing site mutations, small deletions/insertions, and gross deletions (Sillén et al. 1996; Rizzo et al. 1999; Rizzo 2007). No clear phenotype-genotype correlation has been established.
Clinical Sensitivity - Sequencing with CNV PG-Select
ALDH3A2 pathogenic variants are the only cause of SLS and were found in all clinically diagnosed cases in a cohort of 63 patients (Rizzo 2007). Gross deletion and duplication variants appear to be rare, but gross deletions affecting single or multiple exons of ALDH3A2 have been reported (Engelstad et al. 2011).
Testing Strategy
This test provides full coverage of all coding exons of the ALDH3A2 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.
Indications for Test
Candidates for this test are patients with symptoms consistent with Sjogren-Larsson syndrome. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ALDH3A2.
Candidates for this test are patients with symptoms consistent with Sjogren-Larsson syndrome. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ALDH3A2.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| ALDH3A2 | 609523 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Sjogren-Larsson Syndrome | AR | 270200 |
Citations
- Engelstad H, Carney G, S’aulis D, Rise J, Sanger WG, Rudd MK, Richard G, Carr CW, Abdul-Rahman OA, Rizzo WB. 2011. Large contiguous gene deletions in Sjögren-Larsson syndrome. Mol. Genet. Metab. 104: 356–361. PubMed ID: 21684788
- Fuijkschot J, Theelen T, Seyger MMB, Graaf M van der, Groot IJM de, Wevers RA, Wanders RJA, Waterham HR, Willemsen MAAP. 2012. Sjögren-Larsson syndrome in clinical practice. J. Inherit. Metab. Dis. 35: 955–962. PubMed ID: 22833178
- Rizzo WB, Carney G, Lin Z. 1999. The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene. Am. J. Hum. Genet. 65: 1547–1560. PubMed ID: 10577908
- Rizzo WB. 2007. Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency. Mol Genet Metab 90: 1–9. PubMed ID: 16996289
- Sillén A, Anton-Lamprecht I, Braun-Quentin C, Kraus CS, Sayli BS, Ayuso C, Jagell S, Küster W, Wadelius C. 1998. Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome. Hum. Mutat. 12: 377–384. PubMed ID: 9829906
Ordering/Specimens
Ordering Options
We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.
myPrevent - Online Ordering
- The test can be added to your online orders in the Summary and Pricing section.
- Once the test has been added log in to myPrevent to fill out an online requisition form.
- PGnome sequencing panels can be ordered via the myPrevent portal only at this time.
Requisition Form
- A completed requisition form must accompany all specimens.
- Billing information along with specimen and shipping instructions are within the requisition form.
- All testing must be ordered by a qualified healthcare provider.
For Requisition Forms, visit our Forms page
If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.
Specimen Types
Specimen Requirements and Shipping Details
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ORDER OPTIONS
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2) Select Additional Test Options
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