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LAS1L-Related Disorders via the LAS1L 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
LAS1L 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
15255LAS1L81479 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.


Genetic Counselors


  • Angela Gruber, PhD

Clinical Features and Genetics

Clinical Features

LAS1L pathogenic variants have been identified in two families with syndromic X-linked intellectual disability, also referred to as Wilson-Turner Syndrome. Affected individuals in both families had mild to moderate intellectual disability, obesity, speech impairment, and hypogonadism (Hu et al. 2014). In another study, exome sequencing identified a de novo LAS1L variant in an infant with a spinal muscular atrophy with respiratory distress phenotype (SMARD)-like phenotype (Butterfield et al. 2014). The infant presented with distal weakness and primary respiratory failure with mild flexion contractures of the toes and modestly reduced finger extension. To date, no symptomatic female carriers have been reported.


LAS1L-related disorders are inherited in an X-linked recessive manner. To date, missense variants are the only pathogenic variants reported in the LAS1L gene (Human Gene Mutation Database). Recent studies have demonstrated an important role for LAS1L in ribosomal biogenesis. Loss of LAS1L results in p53-depedant cell-cycle arrest, defective pre-rRNA processing and failure to synthesize mature 60S ribosomal subunits (Butterfield et al. 2014).

Clinical Sensitivity - Sequencing with CNV PG-Select

Clinical sensitivity cannot be estimated because only a small number of patients have been reported. Analytical sensitivity should be high because all reported pathogenic variants thus far are detectable by sequencing.

Thus far, no large deletions or duplications involving the LAS1L gene have been reported.

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This test provides full coverage of all coding exons of the LAS1L gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Individuals with clinical symptoms consistent with LAS1L-related disorders are candidates for testing. Testing is also indicated for family members of patients who have known LAS1L mutations.


Official Gene Symbol OMIM ID
LAS1L 300964
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Wilson-Turner syndrome XL 309585


  • Butterfield R.J. et al. 2014. Neurology. 82: 1322-30. PubMed ID: 24647030
  • Hu H. et al. 2016. Molecular Psychiatry. 21: 133-48. PubMed ID: 25644381
  • Human Gene Mutation Database (Bio-base).


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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View Ordering Instructions

1) Select Test Method (Platform)

1) Select Test Type

2) Select Additional Test Options

No Additional Test Options are available for this test.

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