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 GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
8419 EFEMP2 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8419EFEMP281479 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.

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

Turnaround Time

18 days on average

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

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).

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.

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).

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.

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

Name
Autosomal Recessive Cutis Laxa Type 3A (ARCL3A) via the ALDH18A1 Gene
Autosomal Recessive Cutis Laxa Type IIA (ARCL2A) and Wrinkly Skin Syndrome (WSS) via the ATP6V0A2 Gene
Comprehensive Cardiology Panel
Cutis Laxa via the PYCR1 Gene
Geroderma Osteodysplasticum (GO) via the GORAB Gene
Macrocephaly, Alopecia, Cutis Laxa and Scoliosis (MACS) Syndrome via the RIN2 Gene
Menkes Disease and Hereditary Motor Neuropathy via the ATP7A Gene

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.

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

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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.

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