Cutis Laxa, Type 1B (ARCL1B) via the EFEMP2 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 | |
|---|---|---|---|---|---|
| 8419 | EFEMP2 | 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
Autosomal recessive cutis laxa type1B (ARCL1B, OMIM#614437) is a connective tissue disorder characterized by generalized cutis laxa, cardiovascular defects (tortuosity, aneurysms, and stenosis), birth fractures, and arachnodactyly. Some less common occurrences include facial dysmorphic features, delayed closure of the fontanel, joint laxity, hip dislocation, and inguinal hernia. Clinical manifestations associated with EFEMP2 variants are highly variable in terms of organ involvement and degree of severity. Some patients may die prenatally or shortly after birth due to complication of cardiopulmonary deficiency (Hucthagowder et al. Am J Hum Genet 78:1075-1080, 2006; Morava et al. Eur J Hum Genet 17:1099-1110, 2009, Loeys et al. GeneReviews, 2011).
Genetics
Autosomal recessive cutis laxa, type 1B (ARCL1B) is inherited as an autosomal recessive disorder caused by variants in the EFEMP2 gene. The EFEMP2 gene (also referred as FBLN4, OMIM#604633) encodes epithelium growth factor containing fibulin-like extracellular matrix protein 2, which interacts with extracellular matrix proteins including other fibulins to regulate elastic fiber formation and assembling during development of vascular, lung, and connective tissues. So far, six missense variants and one truncating variant were reported in families affected with ARCL1B. No genotype-phenotype correlations were documented (Hucthagowder et al. Am J Hum Genet 78:1075-1080, 2006; Dasouki et al. Am J Med Genet 143A:2635-2641, 2007; Morava et al. Eur J Hum Genet 17:1099-1110, 2009; Renard et al. Eur J Hum Genet 18:895-901, 2010; Loeys et al, GeneReviews, 2011).
Clinical Sensitivity - Sequencing with CNV PG-Select
One study reported that the EFEMP2 variants were identified in three out of 22 patients with mild skin conditions and apparent cardiovascular defects (Renard et al. Eur J Hum Genet 18:895-901, 2010).
Testing Strategy
This test provides full coverage of all coding exons of the EFEMP2 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 ARCL1B and the family members of patients who have known EFEMP2 variants. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in EFEMP2.
Candidates for this test are patients with symptoms consistent with ARCL1B and the family members of patients who have known EFEMP2 variants. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in EFEMP2.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| EFEMP2 | 604633 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Cutis Laxa, Autosomal Recessive, Type IB | AR | 614437 |
Related Tests
Citations
- Dasouki et al.(2007) "Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa." Am. J. Med. Genet. 143A(22): 2635-2641. PubMed ID: 17937443
- Hucthagowder et al. (2006). Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. Am J Hum Genet 78(6):1075-1080. PubMed ID: 16685658
- Loeys et al. EFEMP2-Related Cutis Laxa. GeneReviews, 2011. PubMed ID: 21563328
- Morava et al. Autosomal recessive cutis laxa syndrome revisited. Eur J Hum Genet 17:1099-1110, 2009. PubMed ID: 19401719
- Renard et al. (2010). Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. Eur J Hum Genet 18(8):895-901. PubMed ID: 20389311
- Renard et al. (2010). "Altered TGFbetal signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type 1 caused by fibulin-4 deficiency." Europ. J. Hum. Genet. 18:895-901.
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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