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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 GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
7861 ALDH3A2 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7861ALDH3A281479 81479,81479 $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Turnaround Time

18 days on average for standard orders or 13 days 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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Stela Berisha, PhD, FACMG

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.

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


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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